Unique variants in gene ALK

Information The variants shown are described using the NM_004304.4 transcript reference sequence.

125 entries on 2 pages. Showing entries 1 - 100.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

dbSNP ID     

Variant remarks     

Genetic origin     

Segregation     

Also Known As     

Geographic Origin (for founder variants)     

Is Greek Founder     

Owner     
./. 1 - c.-6G>C r.(=) p.(=) g.30143531C>G - ALK_000016 - - - - - - - Despoina Kalfakakou
./. 2 - c.1A>T r.? p.? g.30143525T>A - ALK_000070 - - - - - - - Despoina Kalfakakou
./. 1 - c.26T>C r.(?) p.(Leu9Pro) g.30143500A>G - ALK_000111 - - - - - - - Despoina Kalfakakou
./. 1 - c.72G>A r.(=) p.(=) g.30143454C>T - ALK_000037 - - - - - - - Despoina Kalfakakou
./. 3 - c.106C>T r.(?) p.(Pro36Ser) g.30143420G>A - ALK_000027 - - - - - - - Despoina Kalfakakou
./. 1 - c.234G>A r.(=) p.(=) g.30143292C>T - ALK_000114 - - - - - - - Despoina Kalfakakou
./. 1 - c.350C>T r.(?) p.(Pro117Leu) g.30143176G>A - ALK_000125 - - - - - - - Despoina Kalfakakou
./. 1 - c.386G>A r.(?) p.(Gly129Asp) g.30143140C>T - ALK_000060 - - - - - - - Despoina Kalfakakou
./. 1 - c.393C>T r.(=) p.(=) g.30143133G>A - ALK_000056 - - - - - - - Despoina Kalfakakou
./. 1 - c.405C>A r.(=) p.(=) g.30143121G>T - ALK_000081 - - - - - - - Despoina Kalfakakou
./. 2 - c.469C>T r.(?) p.(Pro157Ser) g.30143057G>A - ALK_000055 rs74774946 - - - - - - Despoina Kalfakakou
./. 7 - c.522C>A r.(?) p.(Phe174Leu) g.30143004G>T - ALK_000059 - - - - - - - Despoina Kalfakakou
./. 1 - c.615C>T r.(=) p.(=) g.30142911G>A - ALK_000046 - - - - - - - Despoina Kalfakakou
./. 1 - c.667+27G>A r.(=) p.(=) g.30142832C>T - ALK_000072 - - - - - - - Despoina Kalfakakou
./. 1 - c.667+34A>G r.(=) p.(=) g.30142825T>C - ALK_000049 - - - - - - - Despoina Kalfakakou
./. 1 - c.731A>C r.(?) p.(Asn244Thr) g.29940500T>G - ALK_000084 - - - - - - - Despoina Kalfakakou
./. 1 - c.787+9A>G r.(=) p.(=) g.29940435T>C - ALK_000041 - - - - - - - Despoina Kalfakakou
./. 2 - c.787+14T>G r.(=) p.(=) g.29940430A>C - ALK_000074 - - - - - - - Despoina Kalfakakou
./. 2 - c.787+35T>C r.(=) p.(=) g.29940409A>G - ALK_000061 - - - - - - - Despoina Kalfakakou
./. 1 - c.788-46C>T r.(=) p.(=) g.29917926G>A - ALK_000002 - - - - - - - Despoina Kalfakakou
./. 2 - c.788-45G>A r.(=) p.(=) g.29917925C>T - ALK_000015 - - - - - - - Despoina Kalfakakou
./. 1 - c.788-7A>G r.(=) p.(=) g.29917887T>C - ALK_000063 - - - - - - - Despoina Kalfakakou
./. 1 - c.808T>C r.(?) p.(Phe270Leu) g.29917860A>G - ALK_000097 - - - - - - - Despoina Kalfakakou
./. 10 - c.932G>A r.(?) p.(Arg311His) g.29917736C>T - ALK_000001 - - - - - - - Despoina Kalfakakou
./. 1 - c.1110G>A r.(=) p.(=) g.29754825C>T - ALK_000098 - - - - - - - Despoina Kalfakakou
./. 1 - c.1133T>C r.(?) p.(Met378Thr) g.29754802A>G - ALK_000026 - - - - - - - Despoina Kalfakakou
./. 1 - c.1154+15del r.(=) p.(=) g.29754766del - ALK_000017 - - - - - - - Despoina Kalfakakou
./. 1 - c.1155-19T>C r.(=) p.(=) g.29606744A>G - ALK_000033 - - - - - - - Despoina Kalfakakou
./. 1 - c.1155-3C>T r.spl? p.? g.29606728G>A - ALK_000073 - - - - - - - Despoina Kalfakakou
./. 1 - c.1184G>A r.(?) p.(Arg395His) g.29606696C>T - ALK_000083 - - - - - - - Despoina Kalfakakou
./. 1 - c.1224C>T r.(=) p.(=) g.29606656G>A - ALK_000013 - - - - - - - Despoina Kalfakakou
./. 1 - c.1235G>A r.(?) p.(Arg412His) g.29606645C>T - ALK_000118 - - - - - - - Despoina Kalfakakou
./. 1 - c.1262C>A r.(?) p.(Ala421Asp) g.29606618G>T - ALK_000112 - - - - - - - Despoina Kalfakakou
./. 1 - c.1281A>C r.(?) p.(Glu427Asp) g.29606599T>G - ALK_000082 - - - - - - - Despoina Kalfakakou
./. 1 - c.1360G>A r.(?) p.(Ala454Thr) g.29551270C>T - ALK_000117 - - - - - - - Despoina Kalfakakou
./. 1 - c.1415-46C>T r.(=) p.(=) g.29543794G>A - ALK_000119 - - - - - - - Despoina Kalfakakou
./. 1 - c.1415-23G>A r.(=) p.(=) g.29543771C>T - ALK_000095 - - - - - - - Despoina Kalfakakou
./. 1 - c.1415-10C>G r.(=) p.(=) g.29543758G>C - ALK_000036 - - - - - - - Despoina Kalfakakou
./. 22 - c.1464C>T r.(=) p.(=) g.29543699G>A - ALK_000018 rs56165377 - - - - - - Despoina Kalfakakou
./. 1 - c.1528C>T r.(?) p.(Arg510Trp) g.29543635G>A - ALK_000077 - - - - - - - Despoina Kalfakakou
./. 1 - c.1547-13T>C r.(=) p.(=) g.29541283A>G - ALK_000076 - - - - - - - Despoina Kalfakakou
./. 1 - c.1551T>C r.(=) p.(=) g.29541266A>G - ALK_000121 - - - - - - - Despoina Kalfakakou
./. 2 - c.1626G>C r.(=) p.(=) g.29541191C>G - ALK_000025 - - - - - - - Despoina Kalfakakou
./. 1 - c.1713C>G r.(?) p.(Asn571Lys) g.29519858G>C - ALK_000096 - - - - - - - Despoina Kalfakakou
./. 4 - c.1729C>A r.(?) p.(Gln577Lys) g.29519842G>T - ALK_000089 - - - - - - - Despoina Kalfakakou
./. 1 - c.1730A>G r.(?) p.(Gln577Arg) g.29519841T>C - ALK_000085 - - - - - - - Despoina Kalfakakou
./. 4 - c.1787T>C r.(?) p.(Met596Thr) g.29519784A>G - ALK_000038 - - - - - - - Despoina Kalfakakou
./. 1 - c.1912+32C>T r.(=) p.(=) g.29498236G>A - ALK_000088 - - - - - - - Despoina Kalfakakou
./. 1 - c.1998C>T r.(=) p.(=) g.29498008G>A - ALK_000035 - - - - - - - Despoina Kalfakakou
./. 1 - c.1999G>A r.(?) p.(Gly667Arg) g.29498007C>T - ALK_000064 - - - - - - - Despoina Kalfakakou
./. 1 - c.2041+15C>T r.(=) p.(=) g.29497950G>A - ALK_000087 - - - - - - - Despoina Kalfakakou
./. 1 - c.2042-35C>T r.(=) p.(=) g.29474168G>A - ALK_000099 rs13413612 - - - - - - Despoina Kalfakakou
./. 1 - c.2042-32C>T r.(=) p.(=) g.29474165G>A - ALK_000024 - - - - - - - Despoina Kalfakakou
./. 1 - c.2059A>G r.(?) p.(Thr687Ala) g.29474116T>C - ALK_000045 - - - - - - - Despoina Kalfakakou
./. 1 - c.2133C>T r.(=) p.(=) g.29474042G>A - ALK_000044 rs77102810 - - - - - - Despoina Kalfakakou
./. 1 - c.2148C>T r.(=) p.(=) g.29474027G>A - ALK_000110 rs55733526 - - - - - - Despoina Kalfakakou
./. 11 - c.2204+45G>T r.(=) p.(=) g.29473926C>A - ALK_000052 rs13405107 - - - - - - Despoina Kalfakakou
./. 1 - c.2204+47A>G r.(=) p.(=) g.29473924T>C - ALK_000071 - - - - - - - Despoina Kalfakakou
./. 1 - c.2205-20C>T r.(=) p.(=) g.29462716G>A - ALK_000062 - - - - - - - Despoina Kalfakakou
./. 1 - c.2211G>A r.(=) p.(=) g.29462690C>T - ALK_000109 - - - - - - - Despoina Kalfakakou
./. 1 - c.2269G>T r.(?) p.(Val757Leu) g.29462632C>A - ALK_000051 - - - - - - - Despoina Kalfakakou
./. 6 - c.2356-47A>G r.(=) p.(=) g.29456609T>C - ALK_000023 - - - - - - - Despoina Kalfakakou
./. 1 - c.2356-19G>A r.(=) p.(=) g.29456581C>T - ALK_000006 - - - - - - - Despoina Kalfakakou
./. 1 - c.2390A>G r.(?) p.(Glu797Gly) g.29456528T>C - ALK_000100 - - - - - - - Despoina Kalfakakou
./. 1 - c.2478C>T r.(=) p.(=) g.29456440G>A - ALK_000106 - - - - - - - Despoina Kalfakakou
./. 11 - c.2526C>T r.(=) p.(=) g.29455276G>A - ALK_000005 - - - - - - - Despoina Kalfakakou
./. 1 - c.2614G>A r.(?) p.(Gly872Ser) g.29455188C>T - ALK_000090 - - - - - - - Despoina Kalfakakou
./. 1 - c.2627C>G r.(?) p.(Ala876Gly) g.29455175G>C - ALK_000034 - - - - - - - Despoina Kalfakakou
./. 1 - c.2633-41T>C r.(=) p.(=) g.29451973A>G - ALK_000065 - - - - - - - Despoina Kalfakakou
./. 1 - c.2633-25G>A r.(=) p.(=) g.29451957C>T - ALK_000022 - - - - - - - Despoina Kalfakakou
./. 2 - c.2666T>C r.(?) p.(Leu889Ser) g.29451899A>G - ALK_000021 - - - - - - - Despoina Kalfakakou
./. 3 - c.2676C>T r.(=) p.(=) g.29451889G>A - ALK_000020 - - - - - - - Despoina Kalfakakou
./. 2 - c.2815+23G>A r.(=) p.(=) g.29451727C>T - ALK_000092 - - - - - - - Despoina Kalfakakou
./. 2 - c.2816-34C>G r.(=) p.(=) g.29450572G>C - ALK_000057 - - - - - - - Despoina Kalfakakou
./. 1 - c.2906C>T r.(?) p.(Ala969Val) g.29450448G>A - ALK_000069 - - - - - - - Despoina Kalfakakou
./. 1 - c.2914+38G>C r.(=) p.(=) g.29450402C>G - ALK_000120 - - - - - - - Despoina Kalfakakou
./. 1 - c.2914+48C>T r.(=) p.(=) g.29450392G>A - ALK_000122 - - - - - - - Despoina Kalfakakou
./. 3 - c.2928C>T r.(=) p.(=) g.29449927G>A - ALK_000004 rs75895956 - - - - - - Despoina Kalfakakou
./. 2 - c.3030C>T r.(=) p.(=) g.29449825G>A - ALK_000080 - - - - - - - Despoina Kalfakakou
./. 9 - c.3057C>A r.(=) p.(=) g.29449798G>T - ALK_000019 - - - - - - - Despoina Kalfakakou
./. 26 - c.3067+26A>G r.(=) p.(=) g.29449762T>C - ALK_000003 - - - - - - - Despoina Kalfakakou
./. 18 - c.3068-43A>G r.(=) p.(=) g.29448474T>C - ALK_000012 - - - - - - - Despoina Kalfakakou
./. 1 - c.3068-33G>T r.(=) p.(=) g.29448464C>A - ALK_000093 - - - - - - - Despoina Kalfakakou
./. 1 - c.3085C>G r.(?) p.(Pro1029Ala) g.29448414G>C - ALK_000124 - - - - - - - Despoina Kalfakakou
./. 1 - c.3091C>T r.(=) p.(=) g.29448408G>A - ALK_000011 - - - - - - - Despoina Kalfakakou
./. 4 - c.3115G>A r.(?) p.(Val1039Met) g.29448384C>T - ALK_000054 - - - - - - - Despoina Kalfakakou
./. 1 - c.3138C>T r.(=) p.(=) g.29448361G>A - ALK_000043 - - - - - - - Despoina Kalfakakou
./. 1 - c.3139G>A r.(?) p.(Ala1047Thr) g.29448360C>T - ALK_000113 - - - - - - - Despoina Kalfakakou
./. 1 - c.3160G>A r.(?) p.(Gly1054Ser) g.29448339C>T - ALK_000042 - - - - - - - Despoina Kalfakakou
./. 3 - c.3271G>A r.(?) p.(Asp1091Asn) g.29446296C>T - ALK_000010 - - - - - - - Despoina Kalfakakou
./. 2 - c.3279C>T r.(=) p.(=) g.29446288G>A - ALK_000032 - - - - - - - Despoina Kalfakakou
./. 2 - c.3338G>A r.(?) p.(Arg1113Gln) g.29446229C>T - ALK_000009 - - - - - - - Despoina Kalfakakou
./. 1 - c.3354C>A r.(=) p.(=) g.29446213G>T - ALK_000058 - - - - - - - Despoina Kalfakakou
./. 1 - c.3359+7G>A r.(=) p.(=) g.29446201C>T - ALK_000094 - - - - - - - Despoina Kalfakakou
./. 1 - c.3359+18G>A r.(=) p.(=) g.29446190C>T - ALK_000075 - - - - - - - Despoina Kalfakakou
./. 1 - c.3360-3C>T r.spl? p.? g.29445476G>A - ALK_000040 - - - - - - - Despoina Kalfakakou
./. 1 - c.3371A>G r.(?) p.(His1124Arg) g.29445462T>C - ALK_000116 - - - - - - - Despoina Kalfakakou
./. 1 - c.3387G>A r.(=) p.(=) g.29445446C>T - ALK_000078 - - - - - - - Despoina Kalfakakou
./. 1 - c.3450+47G>A r.(=) p.(=) g.29445336C>T - ALK_000102 - - - - - - - Despoina Kalfakakou
./. 1 - c.3451-20C>T r.(=) p.(=) g.29445294G>A - ALK_000079 - - - - - - - Despoina Kalfakakou
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