Canonical Allele Identifier: CA6572834
Gene: ACVRL1 HGNC NCBI

Linked Data

ClinVar Variation Id: 309440
dbSNP Id: rs56080682

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.51913244C>T , CM000674.2:g.51913244C>T GRCh38
NC_000012.11:g.52307028C>T , CM000674.1:g.52307028C>T GRCh37
NC_000012.10:g.50593295C>T NCBI36
NG_009549.1:g.10827C>T , LRG_543:g.10827C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000388922.9:c.207C>T MANE Select ENSP00000373574.4:p.Cys69=
ENST00000388922.8:c.207C>T ENSP00000373574.4:p.Cys69=
ENST00000419526.6:c.103+709C>T ENSP00000392492.2:p.=
ENST00000547400.5:c.249C>T ENSP00000446724.1:p.Cys83=
ENST00000550683.5:c.249C>T ENSP00000447884.1:p.Cys83=
ENST00000551576.5:c.207C>T ENSP00000455848.1:p.Cys69=
NM_000020.2:c.207C>T , LRG_543t1:c.207C>T NP_000011.2:p.Cys69=
NM_001077401.1:c.207C>T NP_001070869.1:p.Cys69=
XM_005269235.2:c.207C>T XP_005269292.1:p.Cys69=
XM_011539008.1:c.249C>T XP_011537310.1:p.Cys83=
NM_000020.3:c.207C>T MANE Select NP_000011.2:p.Cys69=
NM_001077401.2:c.207C>T NP_001070869.1:p.Cys69=