Canonical Allele Identifier: CA1919069
Gene: ACVR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2104394
ClinVar RCV Id: RCV003041682
dbSNP Id: rs121912680

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.157770384C>T , CM000664.2:g.157770384C>T GRCh38
NC_000002.11:g.158626896C>T , CM000664.1:g.158626896C>T GRCh37
NC_000002.10:g.158335142C>T NCBI36
NG_008004.1:g.109728G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000682025.1:c.774G>A ENSP00000507086.1:p.Arg258=
ENST00000682300.1:c.774G>A ENSP00000507102.1:p.Arg258=
ENST00000682690.1:n.791G>A
ENST00000683404.1:c.774G>A ENSP00000506824.1:p.Arg258=
ENST00000683426.1:c.774G>A ENSP00000507597.1:p.Arg258=
ENST00000683441.1:c.774G>A ENSP00000508189.1:p.Arg258=
ENST00000683487.1:c.774G>A ENSP00000507113.1:p.Arg258=
ENST00000683820.1:c.774G>A ENSP00000507727.1:p.Arg258=
ENST00000684104.1:n.982G>A
ENST00000684348.1:c.774G>A ENSP00000508136.1:p.Arg258=
ENST00000684595.1:c.774G>A ENSP00000507730.1:p.Arg258=
ENST00000424669.6:c.774G>A ENSP00000400767.2:p.Arg258=
ENST00000434821.7:c.774G>A MANE Select ENSP00000405004.1:p.Arg258=
ENST00000539637.6:c.774G>A ENSP00000440091.2:p.Arg258=
ENST00000672582.1:c.774G>A ENSP00000500605.1:p.Arg258=
ENST00000673324.1:c.774G>A ENSP00000500109.1:p.Arg258=
ENST00000263640.7:c.774G>A ENSP00000263640.3:p.Arg258=
ENST00000409283.6:c.774G>A ENSP00000387273.2:p.Arg258=
ENST00000410057.6:c.774G>A ENSP00000387127.2:p.Arg258=
ENST00000434821.5:c.774G>A ENSP00000405004.1:p.Arg258=
NM_001105.4:c.774G>A NP_001096.1:p.Arg258=
NM_001111067.2:c.774G>A NP_001104537.1:p.Arg258=
XM_005246939.2:c.774G>A XP_005246996.1:p.Arg258=
XM_005246940.2:c.774G>A XP_005246997.1:p.Arg258=
XM_006712825.2:c.774G>A XP_006712888.1:p.Arg258=
XM_011512106.1:c.774G>A XP_011510408.1:p.Arg258=
XM_011512107.1:c.774G>A XP_011510409.1:p.Arg258=
XM_011512108.1:c.774G>A XP_011510410.1:p.Arg258=
NM_001347663.1:c.774G>A NP_001334592.1:p.Arg258=
NM_001347664.1:c.774G>A NP_001334593.1:p.Arg258=
NM_001347665.1:c.774G>A NP_001334594.1:p.Arg258=
NM_001347666.1:c.774G>A NP_001334595.1:p.Arg258=
NM_001347667.1:c.774G>A NP_001334596.1:p.Arg258=
XM_006712825.4:c.774G>A XP_006712888.1:p.Arg258=
XM_011512108.3:c.774G>A XP_011510410.1:p.Arg258=
NM_001105.5:c.774G>A NP_001096.1:p.Arg258=
NM_001111067.4:c.774G>A MANE Select NP_001104537.1:p.Arg258=
NM_001347667.2:c.774G>A NP_001334596.1:p.Arg258=