Canonical Allele Identifier: CA480063071

Gene: ACVRL1

Linked Data

• gnomAD v4: 12-51913271-G-A
• MyVariant Identifiers: chr12:g.52307055G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51913271G>A , CM000674.2:g.51913271G>A	GRCh38
NC_000012.11:g.52307055G>A , CM000674.1:g.52307055G>A	GRCh37
NC_000012.10:g.50593322G>A	NCBI36
NG_009549.1:g.10854G>A , LRG_543:g.10854G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.276G>A	ENSP00000446724.2:p.Arg92=
ENST00000551576.6:c.234G>A	ENSP00000455848.2:p.Arg78=
ENST00000552678.2:c.234G>A	ENSP00000457394.2:p.Arg78=
ENST00000388922.9:c.234G>A MANE Select	ENSP00000373574.4:p.Arg78=
ENST00000388922.8:c.234G>A	ENSP00000373574.4:p.Arg78=
ENST00000419526.6:c.103+736G>A	ENSP00000392492.2:n.103+736G>A
ENST00000547400.5:c.276G>A	ENSP00000446724.1:p.Arg92=
ENST00000550683.5:c.276G>A	ENSP00000447884.1:p.Arg92=
ENST00000551576.5:c.234G>A	ENSP00000455848.1:p.Arg78=
NM_000020.2:c.234G>A , LRG_543t1:c.234G>A	NP_000011.2:p.Arg78=
NM_001077401.1:c.234G>A	NP_001070869.1:p.Arg78=
XM_005269235.2:c.234G>A	XP_005269292.1:p.Arg78=
XM_011539008.1:c.276G>A	XP_011537310.1:p.Arg92=
NM_000020.3:c.234G>A MANE Select	NP_000011.2:p.Arg78=
NM_001077401.2:c.234G>A	NP_001070869.1:p.Arg78=