Canonical Allele Identifier: CA384901981

Gene: ACVRL1

Linked Data

• ClinVar Variation Id: 426023
• ClinVar RCV Id: RCV000488852 ; RCV000507211 ; RCV000525054 ; RCV002404279
• dbSNP Id: rs1085307415
• gnomAD v4: 12-51916042-C-A
• MyVariant Identifiers: chr12:g.52309826C>A (hg19) ; chr12:g.51916042C>A (hg38)
• PubMed: PMID:19357124 ; PMID:26387786

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51916042C>A , CM000674.2:g.51916042C>A	GRCh38
NC_000012.11:g.52309826C>A , CM000674.1:g.52309826C>A	GRCh37
NC_000012.10:g.50596093C>A	NCBI36
NG_009549.1:g.13625C>A , LRG_543:g.13625C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.785C>A	ENSP00000446724.2:p.Ala262Asp
ENST00000551576.6:c.1055C>A	ENSP00000455848.2:p.Ala352Asp
ENST00000552678.2:c.1055C>A	ENSP00000457394.2:p.Ala352Asp
ENST00000388922.9:c.1055C>A MANE Select	ENSP00000373574.4:p.Ala352Asp
ENST00000388922.8:c.1055C>A	ENSP00000373574.4:p.Ala352Asp
ENST00000419526.6:c.533C>A	ENSP00000392492.2:p.Ala178Asp
ENST00000547632.1:n.330C>A
ENST00000550683.5:c.1097C>A	ENSP00000447884.1:p.Ala366Asp
ENST00000552678.1:c.60C>A
NM_000020.2:c.1055C>A , LRG_543t1:c.1055C>A	NP_000011.2:p.Ala352Asp
NM_001077401.1:c.1055C>A	NP_001070869.1:p.Ala352Asp
XM_005269235.2:c.1055C>A	XP_005269292.1:p.Ala352Asp
XM_011539008.1:c.785C>A	XP_011537310.1:p.Ala262Asp
XM_024449279.1:c.266C>A	XP_024305047.1:p.Ala89Asp
NM_000020.3:c.1055C>A MANE Select	NP_000011.2:p.Ala352Asp
NM_001077401.2:c.1055C>A	NP_001070869.1:p.Ala352Asp