Canonical Allele Identifier: CA480063145

Gene: ACVRL1

Linked Data

• MyVariant Identifiers: chr12:g.52309037C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51915253C>A , CM000674.2:g.51915253C>A	GRCh38
NC_000012.11:g.52309037C>A , CM000674.1:g.52309037C>A	GRCh37
NC_000012.10:g.50595304C>A	NCBI36
NG_009549.1:g.12836C>A , LRG_543:g.12836C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.531C>A	ENSP00000446724.2:p.Arg177=
ENST00000551576.6:c.801C>A	ENSP00000455848.2:p.Arg267=
ENST00000552678.2:c.801C>A	ENSP00000457394.2:p.Arg267=
ENST00000388922.9:c.801C>A MANE Select	ENSP00000373574.4:p.Arg267=
ENST00000388922.8:c.801C>A	ENSP00000373574.4:p.Arg267=
ENST00000419526.6:c.279C>A	ENSP00000392492.2:p.Arg93=
ENST00000550683.5:c.843C>A	ENSP00000447884.1:p.Arg281=
NM_000020.2:c.801C>A , LRG_543t1:c.801C>A	NP_000011.2:p.Arg267=
NM_001077401.1:c.801C>A	NP_001070869.1:p.Arg267=
XM_005269235.2:c.801C>A	XP_005269292.1:p.Arg267=
XM_011539008.1:c.531C>A	XP_011537310.1:p.Arg177=
XM_024449279.1:c.12C>A	XP_024305047.1:p.Arg4=
NM_000020.3:c.801C>A MANE Select	NP_000011.2:p.Arg267=
NM_001077401.2:c.801C>A	NP_001070869.1:p.Arg267=