Canonical Allele Identifier: CA6573021

Gene: ACVRL1

Linked Data

• dbSNP Id: rs755786527
• ExAC: 12:52309168 C / G
• gnomAD v2: 12-52309168-C-G
• gnomAD v4: 12-51915384-C-G
• MyVariant Identifiers: chr12:g.52309168C>G (hg19) ; chr12:g.51915384C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51915384C>G , CM000674.2:g.51915384C>G	GRCh38
NC_000012.11:g.52309168C>G , CM000674.1:g.52309168C>G	GRCh37
NC_000012.10:g.50595435C>G	NCBI36
NG_009549.1:g.12967C>G , LRG_543:g.12967C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000547400.6:c.662C>G	ENSP00000446724.2:p.Ala221Gly
ENST00000551576.6:c.932C>G	ENSP00000455848.2:p.Ala311Gly
ENST00000552678.2:c.932C>G	ENSP00000457394.2:p.Ala311Gly
ENST00000388922.9:c.932C>G MANE Select	ENSP00000373574.4:p.Ala311Gly
ENST00000388922.8:c.932C>G	ENSP00000373574.4:p.Ala311Gly
ENST00000419526.6:c.410C>G	ENSP00000392492.2:p.Ala137Gly
ENST00000550683.5:c.974C>G	ENSP00000447884.1:p.Ala325Gly
NM_000020.2:c.932C>G , LRG_543t1:c.932C>G	NP_000011.2:p.Ala311Gly
NM_001077401.1:c.932C>G	NP_001070869.1:p.Ala311Gly
XM_005269235.2:c.932C>G	XP_005269292.1:p.Ala311Gly
XM_011539008.1:c.662C>G	XP_011537310.1:p.Ala221Gly
XM_024449279.1:c.143C>G	XP_024305047.1:p.Ala48Gly
NM_000020.3:c.932C>G MANE Select	NP_000011.2:p.Ala311Gly
NM_001077401.2:c.932C>G	NP_001070869.1:p.Ala311Gly