Canonical Allele Identifier: CA384900303

Gene: ACVRL1

Linked Data

• dbSNP Id: rs1940801513
• gnomAD v3: 12-51915233-G-A
• gnomAD v4: 12-51915233-G-A
• COSMIC: COSM4150180 ; COSM4150181
• MyVariant Identifiers: chr12:g.52309017G>A (hg19) ; chr12:g.51915233G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51915233G>A , CM000674.2:g.51915233G>A	GRCh38
NC_000012.11:g.52309017G>A , CM000674.1:g.52309017G>A	GRCh37
NC_000012.10:g.50595284G>A	NCBI36
NG_009549.1:g.12816G>A , LRG_543:g.12816G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.511G>A	ENSP00000446724.2:p.Ala171Thr
ENST00000551576.6:c.781G>A	ENSP00000455848.2:p.Ala261Thr
ENST00000552678.2:c.781G>A	ENSP00000457394.2:p.Ala261Thr
ENST00000388922.9:c.781G>A MANE Select	ENSP00000373574.4:p.Ala261Thr
ENST00000388922.8:c.781G>A	ENSP00000373574.4:p.Ala261Thr
ENST00000419526.6:c.259G>A	ENSP00000392492.2:p.Ala87Thr
ENST00000550683.5:c.823G>A	ENSP00000447884.1:p.Ala275Thr
NM_000020.2:c.781G>A , LRG_543t1:c.781G>A	NP_000011.2:p.Ala261Thr
NM_001077401.1:c.781G>A	NP_001070869.1:p.Ala261Thr
XM_005269235.2:c.781G>A	XP_005269292.1:p.Ala261Thr
XM_011539008.1:c.511G>A	XP_011537310.1:p.Ala171Thr
XM_024449279.1:c.-9G>A	XP_024305047.1:n.-9G>A
NM_000020.3:c.781G>A MANE Select	NP_000011.2:p.Ala261Thr
NM_001077401.2:c.781G>A	NP_001070869.1:p.Ala261Thr