Canonical Allele Identifier: CA384901730

Gene: ACVRL1

Linked Data

• ClinVar Variation Id: 656236
• ClinVar RCV Id: RCV000812604 ; RCV001003754 ; RCV002381809
• dbSNP Id: rs1592224412
• MyVariant Identifiers: chr12:g.52309266T>C (hg19) ; chr12:g.51915482T>C (hg38)

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