Canonical Allele Identifier: CA6573020

Gene: ACVRL1

Linked Data

• dbSNP Id: rs565262730
• ExAC: 12:52309167 G / A
• gnomAD v2: 12-52309167-G-A
• gnomAD v3: 12-51915383-G-A
• gnomAD v4: 12-51915383-G-A
• MyVariant Identifiers: chr12:g.52309167G>A (hg19) ; chr12:g.51915383G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51915383G>A , CM000674.2:g.51915383G>A	GRCh38
NC_000012.11:g.52309167G>A , CM000674.1:g.52309167G>A	GRCh37
NC_000012.10:g.50595434G>A	NCBI36
NG_009549.1:g.12966G>A , LRG_543:g.12966G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000547400.6:c.661G>A	ENSP00000446724.2:p.Ala221Thr
ENST00000551576.6:c.931G>A	ENSP00000455848.2:p.Ala311Thr
ENST00000552678.2:c.931G>A	ENSP00000457394.2:p.Ala311Thr
ENST00000388922.9:c.931G>A MANE Select	ENSP00000373574.4:p.Ala311Thr
ENST00000388922.8:c.931G>A	ENSP00000373574.4:p.Ala311Thr
ENST00000419526.6:c.409G>A	ENSP00000392492.2:p.Ala137Thr
ENST00000550683.5:c.973G>A	ENSP00000447884.1:p.Ala325Thr
NM_000020.2:c.931G>A , LRG_543t1:c.931G>A	NP_000011.2:p.Ala311Thr
NM_001077401.1:c.931G>A	NP_001070869.1:p.Ala311Thr
XM_005269235.2:c.931G>A	XP_005269292.1:p.Ala311Thr
XM_011539008.1:c.661G>A	XP_011537310.1:p.Ala221Thr
XM_024449279.1:c.142G>A	XP_024305047.1:p.Ala48Thr
NM_000020.3:c.931G>A MANE Select	NP_000011.2:p.Ala311Thr
NM_001077401.2:c.931G>A	NP_001070869.1:p.Ala311Thr