Canonical Allele Identifier: CA59283150
Gene: ACVR1 HGNC NCBI

Linked Data

dbSNP Id: rs12694937

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.157800921T>C , CM000664.2:g.157800921T>C GRCh38
NC_000002.11:g.158657433T>C , CM000664.1:g.158657433T>C GRCh37
NC_000002.10:g.158365679T>C NCBI36
NG_008004.1:g.79191A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000682025.1:c.-7-1421A>G ENSP00000507086.1:n.-7-1421A>G
ENST00000682300.1:c.-7-1421A>G ENSP00000507102.1:n.-7-1421A>G
ENST00000683404.1:c.-7-1421A>G ENSP00000506824.1:n.-7-1421A>G
ENST00000683426.1:c.-7-1421A>G ENSP00000507597.1:n.-7-1421A>G
ENST00000683441.1:c.-7-1421A>G ENSP00000508189.1:n.-7-1421A>G
ENST00000683487.1:c.-7-1421A>G ENSP00000507113.1:n.-7-1421A>G
ENST00000683820.1:c.-7-1421A>G ENSP00000507727.1:n.-7-1421A>G
ENST00000684348.1:c.-7-1421A>G ENSP00000508136.1:n.-7-1421A>G
ENST00000684595.1:c.-7-1421A>G ENSP00000507730.1:n.-7-1421A>G
ENST00000424669.6:c.-7-1421A>G ENSP00000400767.2:n.-7-1421A>G
ENST00000434821.7:c.-7-1421A>G MANE Select ENSP00000405004.1:n.-7-1421A>G
ENST00000539637.6:c.-7-1421A>G ENSP00000440091.2:n.-7-1421A>G
ENST00000672582.1:c.-7-1421A>G ENSP00000500605.1:n.-7-1421A>G
ENST00000673324.1:c.-7-1421A>G ENSP00000500109.1:n.-7-1421A>G
ENST00000263640.7:c.-7-1421A>G ENSP00000263640.3:n.-7-1421A>G
ENST00000409283.6:c.-7-1421A>G ENSP00000387273.2:n.-7-1421A>G
ENST00000410057.6:c.-7-1421A>G ENSP00000387127.2:n.-7-1421A>G
ENST00000412025.5:c.-7-1421A>G ENSP00000403006.1:n.-7-1421A>G
ENST00000413751.1:c.-7-1421A>G ENSP00000399322.1:n.-7-1421A>G
ENST00000424669.5:c.-7-1421A>G ENSP00000400767.1:n.-7-1421A>G
ENST00000434821.5:c.-7-1421A>G ENSP00000405004.1:n.-7-1421A>G
ENST00000440523.5:c.-7-1421A>G ENSP00000401189.1:n.-7-1421A>G
ENST00000539637.5:c.-7-1421A>G ENSP00000440091.1:n.-7-1421A>G
NM_001105.4:c.-7-1421A>G NP_001096.1:n.-7-1421A>G
NM_001111067.2:c.-7-1421A>G NP_001104537.1:n.-7-1421A>G
XM_005246939.2:c.-7-1421A>G XP_005246996.1:n.-7-1421A>G
XM_005246940.2:c.-7-1421A>G XP_005246997.1:n.-7-1421A>G
XM_006712825.2:c.-7-1421A>G XP_006712888.1:n.-7-1421A>G
XM_011512106.1:c.-7-1421A>G XP_011510408.1:n.-7-1421A>G
XM_011512107.1:c.-7-1421A>G XP_011510409.1:n.-7-1421A>G
XM_011512108.1:c.-7-1421A>G XP_011510410.1:n.-7-1421A>G
NM_001347663.1:c.-7-1421A>G NP_001334592.1:n.-7-1421A>G
NM_001347664.1:c.-7-1421A>G NP_001334593.1:n.-7-1421A>G
NM_001347665.1:c.-7-1421A>G NP_001334594.1:n.-7-1421A>G
NM_001347666.1:c.-7-1421A>G NP_001334595.1:n.-7-1421A>G
NM_001347667.1:c.-7-1421A>G NP_001334596.1:n.-7-1421A>G
XM_006712825.4:c.-7-1421A>G XP_006712888.1:n.-7-1421A>G
XM_011512108.3:c.-7-1421A>G XP_011510410.1:n.-7-1421A>G
NM_001105.5:c.-7-1421A>G NP_001096.1:n.-7-1421A>G
NM_001111067.4:c.-7-1421A>G MANE Select NP_001104537.1:n.-7-1421A>G
NM_001347667.2:c.-7-1421A>G NP_001334596.1:n.-7-1421A>G