Canonical Allele Identifier: CA384906000

Gene: ACVRL1

Linked Data

• ClinVar Variation Id: 952896
• ClinVar RCV Id: RCV001225097
• dbSNP Id: rs1940959903
• MyVariant Identifiers: chr12:g.52314630C>A (hg19) ; chr12:g.51920846C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51920846C>A , CM000674.2:g.51920846C>A	GRCh38
NC_000012.11:g.52314630C>A , CM000674.1:g.52314630C>A	GRCh37
NC_000012.10:g.50600897C>A	NCBI36
NG_009549.1:g.18429C>A , LRG_543:g.18429C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000547400.6:c.1195C>A	ENSP00000446724.2:p.Leu399Ile
ENST00000551576.6:c.1465C>A	ENSP00000455848.2:p.Leu489Ile
ENST00000388922.9:c.1465C>A MANE Select	ENSP00000373574.4:p.Leu489Ile
ENST00000388922.8:c.1465C>A	ENSP00000373574.4:p.Leu489Ile
ENST00000419526.6:c.943C>A	ENSP00000392492.2:p.Leu315Ile
ENST00000550683.5:c.1507C>A	ENSP00000447884.1:p.Leu503Ile
NM_000020.2:c.1465C>A , LRG_543t1:c.1465C>A	NP_000011.2:p.Leu489Ile
NM_001077401.1:c.1465C>A	NP_001070869.1:p.Leu489Ile
XM_005269235.2:c.1465C>A	XP_005269292.1:p.Leu489Ile
XM_011539008.1:c.1195C>A	XP_011537310.1:p.Leu399Ile
XM_024449279.1:c.676C>A	XP_024305047.1:p.Leu226Ile
NM_000020.3:c.1465C>A MANE Select	NP_000011.2:p.Leu489Ile
NM_001077401.2:c.1465C>A	NP_001070869.1:p.Leu489Ile