Transcript #00000011

Transcript name bone morphogenetic protein receptor, type IA
Gene name BMPR1A (bone morphogenetic protein receptor type 1A)
Chromosome 10
Transcript - NCBI ID NM_004329.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_004320.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

93 entries on 1 page. Showing entries 1 - 93.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
./. - c.56C>T r.(?) p.(Ser19Phe)
./. - c.90T>C r.(=) p.(=)
./. - c.93T>C r.(=) p.(=)
./. - c.114C>G r.(?) p.(Asp38Glu)
./. - c.118G>A r.(?) p.(Asp40Asn)
./. - c.148T>C r.(=) p.(=)
./. - c.183C>T r.(=) p.(=)
./. - c.198C>T r.(=) p.(=)
./. - c.231-9C>T r.(=) p.(=)
./. - c.357C>T r.(=) p.(=)
./. - c.372T>C r.(=) p.(=)
./. - c.430+12G>A r.(=) p.(=)
./. - c.430+12G>A r.(=) p.(=)
./. - c.430+12G>A r.(=) p.(=)
./. - c.430+12G>A r.(=) p.(=)
./. - c.430+25G>A r.(=) p.(=)
./. - c.430+25G>A r.(=) p.(=)
./. - c.430+25G>A r.(=) p.(=)
./. - c.430+25G>A r.(=) p.(=)
./. - c.430+25G>A r.(=) p.(=)
./. - c.430+25G>A r.(=) p.(=)
./. - c.430+25G>A r.(=) p.(=)
./. - c.430+25G>A r.(=) p.(=)
./. - c.430+25G>A r.(=) p.(=)
./. - c.430+25G>A r.(=) p.(=)
./. - c.430+25G>A r.(=) p.(=)
./. - c.430+25G>A r.(=) p.(=)
./. - c.430+25G>A r.(=) p.(=)
./. - c.430+25G>A r.(=) p.(=)
./. - c.430+25G>A r.(=) p.(=)
./. - c.430+25G>A r.(=) p.(=)
./. - c.431-30A>G r.(=) p.(=)
./. - c.499A>G r.(?) p.(Met167Val)
./. - c.675+10A>T r.(=) p.(=)
./. - c.675+47T>C r.(=) p.(=)
./. - c.675+47T>C r.(=) p.(=)
./. - c.675+47T>C r.(=) p.(=)
./. - c.676-34C>T r.(=) p.(=)
./. - c.676-24A>G r.(=) p.(=)
./. - c.676-6A>C r.(=) p.(=)
./. - c.777G>A r.(=) p.(=)
./. - c.777G>A r.(=) p.(=)
./. - c.869-43A>G r.(=) p.(=)
./. - c.869-43A>G r.(=) p.(=)
./. - c.869-43A>G r.(=) p.(=)
./. - c.975A>G r.(=) p.(=)
./. - c.975A>G r.(=) p.(=)
./. - c.975A>G r.(=) p.(=)
./. - c.975A>G r.(=) p.(=)
./. - c.975A>G r.(=) p.(=)
./. - c.975A>G r.(=) p.(=)
./. - c.987A>C r.(?) p.(Arg329Ser)
./. - c.1000T>A r.(?) p.(Leu334Met)
./. - c.1001T>C r.(?) p.(Leu334Ser)
./. - c.1038C>A r.(?) p.(His346Gln)
./. - c.1160T>G r.(?) p.(Phe387Cys)
./. - c.1215A>C r.(?) p.(Lys405Asn)
./. - c.1215A>C r.(?) p.(Lys405Asn)
./. - c.1230C>T r.(=) p.(=)
./. - c.1243G>A r.(?) p.(Glu415Lys)
./. - c.1243G>A r.(?) p.(Glu415Lys)
./. - c.1243G>A r.(?) p.(Glu415Lys)
./. - c.1243G>A r.(?) p.(Glu415Lys)
./. - c.1274A>T r.(?) p.(Tyr425Phe)
./. - c.1274A>T r.(?) p.(Tyr425Phe)
./. - c.1274A>T r.(?) p.(Tyr425Phe)
./. - c.1274A>T r.(?) p.(Tyr425Phe)
./. - c.1274A>T r.(?) p.(Tyr425Phe)
./. - c.1274A>T r.(?) p.(Tyr425Phe)
./. - c.1274A>T r.(?) p.(Tyr425Phe)
./. - c.1274A>T r.(?) p.(Tyr425Phe)
./. - c.1278C>T r.(=) p.(=)
./. - c.1299C>T r.(=) p.(=)
./. - c.1327C>T r.(?) p.(Arg443Cys)
./. - c.1343-26_1343-25insC r.(=) p.(=)
./. - c.1343-24C>A r.(=) p.(=)
./. - c.1343-22A>C r.(=) p.(=)
./. - c.1388G>T r.(?) p.(Ser463Ile)
./. - c.1412G>A r.(?) p.(Arg471His)
./. - c.1419T>G r.(=) p.(=)
./. - c.1419T>G r.(=) p.(=)
./. - c.1419T>G r.(=) p.(=)
./. - c.1419T>G r.(=) p.(=)
./. - c.1419T>G r.(=) p.(=)
./. - c.1419T>G r.(=) p.(=)
./. - c.1419T>G r.(=) p.(=)
./. - c.1419T>G r.(=) p.(=)
./. - c.1419T>G r.(=) p.(=)
./. - c.1458G>A r.(=) p.(=)
./. - c.1473+18C>T r.(=) p.(=)
./. - c.1473+34C>T r.(=) p.(=)
./. - c.1473+35G>A r.(=) p.(=)
./. - c.1528T>C r.(?) p.(Ser510Pro)
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