Canonical Allele Identifier: CA2036266702

Gene: ACVRL1

Linked Data

• dbSNP Id: rs1592221322

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51912991T>G , CM000674.2:g.51912991T>G	GRCh38
NC_000012.11:g.52306775T>G , CM000674.1:g.52306775T>G	GRCh37
NC_000012.10:g.50593042T>G	NCBI36
NG_009549.1:g.10574T>G , LRG_543:g.10574T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.104-108T>G	ENSP00000446724.2:n.104-108T>G
ENST00000551576.6:c.62-108T>G	ENSP00000455848.2:n.62-108T>G
ENST00000552678.2:c.62-108T>G	ENSP00000457394.2:n.62-108T>G
ENST00000388922.9:c.62-108T>G MANE Select	ENSP00000373574.4:n.62-108T>G
ENST00000388922.8:c.62-108T>G	ENSP00000373574.4:n.62-108T>G
ENST00000419526.6:c.103+456T>G	ENSP00000392492.2:n.103+456T>G
ENST00000547400.5:c.104-108T>G	ENSP00000446724.1:n.104-108T>G
ENST00000550683.5:c.104-108T>G	ENSP00000447884.1:n.104-108T>G
ENST00000551576.5:c.62-108T>G	ENSP00000455848.1:n.62-108T>G
NM_000020.2:c.62-108T>G , LRG_543t1:c.62-108T>G	NP_000011.2:n.62-108T>G
NM_001077401.1:c.62-108T>G	NP_001070869.1:n.62-108T>G
XM_005269235.2:c.62-108T>G	XP_005269292.1:n.62-108T>G
XM_011539008.1:c.104-108T>G	XP_011537310.1:n.104-108T>G
NM_000020.3:c.62-108T>G MANE Select	NP_000011.2:n.62-108T>G
NM_001077401.2:c.62-108T>G	NP_001070869.1:n.62-108T>G