Canonical Allele Identifier: CA384901730
Gene: ACVRL1 HGNC NCBI

Linked Data

ClinVar Variation Id: 656236
dbSNP Id: rs1592224412

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.51915482T>C , CM000674.2:g.51915482T>C GRCh38
NC_000012.11:g.52309266T>C , CM000674.1:g.52309266T>C GRCh37
NC_000012.10:g.50595533T>C NCBI36
NG_009549.1:g.13065T>C , LRG_543:g.13065T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000547400.6:c.760T>C ENSP00000446724.2:p.Cys254Arg
ENST00000551576.6:c.1030T>C ENSP00000455848.2:p.Cys344Arg
ENST00000552678.2:c.1030T>C ENSP00000457394.2:p.Cys344Arg
ENST00000388922.9:c.1030T>C MANE Select ENSP00000373574.4:p.Cys344Arg
ENST00000388922.8:c.1030T>C ENSP00000373574.4:p.Cys344Arg
ENST00000419526.6:c.508T>C ENSP00000392492.2:p.Cys170Arg
ENST00000550683.5:c.1072T>C ENSP00000447884.1:p.Cys358Arg
ENST00000552678.1:c.35T>C
NM_000020.2:c.1030T>C , LRG_543t1:c.1030T>C NP_000011.2:p.Cys344Arg
NM_001077401.1:c.1030T>C NP_001070869.1:p.Cys344Arg
XM_005269235.2:c.1030T>C XP_005269292.1:p.Cys344Arg
XM_011539008.1:c.760T>C XP_011537310.1:p.Cys254Arg
XM_024449279.1:c.241T>C XP_024305047.1:p.Cys81Arg
NM_000020.3:c.1030T>C MANE Select NP_000011.2:p.Cys344Arg
NM_001077401.2:c.1030T>C NP_001070869.1:p.Cys344Arg