Canonical Allele Identifier: CA325209

Gene: ACVRL1

Linked Data

• ClinVar Variation Id: 212800
• ClinVar RCV Id: RCV000200622 ; RCV001238032
• dbSNP Id: rs863223411
• MyVariant Identifiers: chr12:g.52309156C>A (hg19) ; chr12:g.51915372C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51915372C>A , CM000674.2:g.51915372C>A	GRCh38
NC_000012.11:g.52309156C>A , CM000674.1:g.52309156C>A	GRCh37
NC_000012.10:g.50595423C>A	NCBI36
NG_009549.1:g.12955C>A , LRG_543:g.12955C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000547400.6:c.650C>A	ENSP00000446724.2:p.Ala217Glu
ENST00000551576.6:c.920C>A	ENSP00000455848.2:p.Ala307Glu
ENST00000552678.2:c.920C>A	ENSP00000457394.2:p.Ala307Glu
ENST00000388922.9:c.920C>A MANE Select	ENSP00000373574.4:p.Ala307Glu
ENST00000388922.8:c.920C>A	ENSP00000373574.4:p.Ala307Glu
ENST00000419526.6:c.398C>A	ENSP00000392492.2:p.Ala133Glu
ENST00000550683.5:c.962C>A	ENSP00000447884.1:p.Ala321Glu
NM_000020.2:c.920C>A , LRG_543t1:c.920C>A	NP_000011.2:p.Ala307Glu
NM_001077401.1:c.920C>A	NP_001070869.1:p.Ala307Glu
XM_005269235.2:c.920C>A	XP_005269292.1:p.Ala307Glu
XM_011539008.1:c.650C>A	XP_011537310.1:p.Ala217Glu
XM_024449279.1:c.131C>A	XP_024305047.1:p.Ala44Glu
NM_000020.3:c.920C>A MANE Select	NP_000011.2:p.Ala307Glu
NM_001077401.2:c.920C>A	NP_001070869.1:p.Ala307Glu