Canonical Allele Identifier: CA384905480

Gene: ACVRL1

Linked Data

• ClinVar Variation Id: 1015010
• ClinVar RCV Id: RCV001313821
• dbSNP Id: rs1940955180
• MyVariant Identifiers: chr12:g.52314576T>G (hg19) ; chr12:g.51920792T>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.1141T>G	ENSP00000446724.2:p.Cys381Gly
ENST00000551576.6:c.1411T>G	ENSP00000455848.2:p.Cys471Gly
ENST00000388922.9:c.1411T>G MANE Select	ENSP00000373574.4:p.Cys471Gly
ENST00000388922.8:c.1411T>G	ENSP00000373574.4:p.Cys471Gly
ENST00000419526.6:c.889T>G	ENSP00000392492.2:p.Cys297Gly
ENST00000550683.5:c.1453T>G	ENSP00000447884.1:p.Cys485Gly
NM_000020.2:c.1411T>G , LRG_543t1:c.1411T>G	NP_000011.2:p.Cys471Gly
NM_001077401.1:c.1411T>G	NP_001070869.1:p.Cys471Gly
XM_005269235.2:c.1411T>G	XP_005269292.1:p.Cys471Gly
XM_011539008.1:c.1141T>G	XP_011537310.1:p.Cys381Gly
XM_024449279.1:c.622T>G	XP_024305047.1:p.Cys208Gly
NM_000020.3:c.1411T>G MANE Select	NP_000011.2:p.Cys471Gly
NM_001077401.2:c.1411T>G	NP_001070869.1:p.Cys471Gly