Canonical Allele Identifier: CA384897695

Gene: ACVRL1

Linked Data

• dbSNP Id: rs1169329926
• gnomAD v3: 12-51913183-C-G
• gnomAD v4: 12-51913183-C-G
• COSMIC: COSM4659226 ; COSM4659227
• MyVariant Identifiers: chr12:g.52306967C>G (hg19) ; chr12:g.51913183C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51913183C>G , CM000674.2:g.51913183C>G	GRCh38
NC_000012.11:g.52306967C>G , CM000674.1:g.52306967C>G	GRCh37
NC_000012.10:g.50593234C>G	NCBI36
NG_009549.1:g.10766C>G , LRG_543:g.10766C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000547400.6:c.188C>G	ENSP00000446724.2:p.Ala63Gly
ENST00000551576.6:c.146C>G	ENSP00000455848.2:p.Ala49Gly
ENST00000552678.2:c.146C>G	ENSP00000457394.2:p.Ala49Gly
ENST00000388922.9:c.146C>G MANE Select	ENSP00000373574.4:p.Ala49Gly
ENST00000388922.8:c.146C>G	ENSP00000373574.4:p.Ala49Gly
ENST00000419526.6:c.103+648C>G	ENSP00000392492.2:n.103+648C>G
ENST00000547400.5:c.188C>G	ENSP00000446724.1:p.Ala63Gly
ENST00000550683.5:c.188C>G	ENSP00000447884.1:p.Ala63Gly
ENST00000551576.5:c.146C>G	ENSP00000455848.1:p.Ala49Gly
NM_000020.2:c.146C>G , LRG_543t1:c.146C>G	NP_000011.2:p.Ala49Gly
NM_001077401.1:c.146C>G	NP_001070869.1:p.Ala49Gly
XM_005269235.2:c.146C>G	XP_005269292.1:p.Ala49Gly
XM_011539008.1:c.188C>G	XP_011537310.1:p.Ala63Gly
NM_000020.3:c.146C>G MANE Select	NP_000011.2:p.Ala49Gly
NM_001077401.2:c.146C>G	NP_001070869.1:p.Ala49Gly