Canonical Allele Identifier: CA384905481

Gene: ACVRL1

Linked Data

• ClinVar Variation Id: 2811227
• ClinVar RCV Id: RCV003620706
• MyVariant Identifiers: chr12:g.52314576T>C (hg19) ; chr12:g.51920792T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51920792T>C , CM000674.2:g.51920792T>C	GRCh38
NC_000012.11:g.52314576T>C , CM000674.1:g.52314576T>C	GRCh37
NC_000012.10:g.50600843T>C	NCBI36
NG_009549.1:g.18375T>C , LRG_543:g.18375T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000547400.6:c.1141T>C	ENSP00000446724.2:p.Cys381Arg
ENST00000551576.6:c.1411T>C	ENSP00000455848.2:p.Cys471Arg
ENST00000388922.9:c.1411T>C MANE Select	ENSP00000373574.4:p.Cys471Arg
ENST00000388922.8:c.1411T>C	ENSP00000373574.4:p.Cys471Arg
ENST00000419526.6:c.889T>C	ENSP00000392492.2:p.Cys297Arg
ENST00000550683.5:c.1453T>C	ENSP00000447884.1:p.Cys485Arg
NM_000020.2:c.1411T>C , LRG_543t1:c.1411T>C	NP_000011.2:p.Cys471Arg
NM_001077401.1:c.1411T>C	NP_001070869.1:p.Cys471Arg
XM_005269235.2:c.1411T>C	XP_005269292.1:p.Cys471Arg
XM_011539008.1:c.1141T>C	XP_011537310.1:p.Cys381Arg
XM_024449279.1:c.622T>C	XP_024305047.1:p.Cys208Arg
NM_000020.3:c.1411T>C MANE Select	NP_000011.2:p.Cys471Arg
NM_001077401.2:c.1411T>C	NP_001070869.1:p.Cys471Arg