Canonical Allele Identifier: CA479816313

Gene: ACVRL1

Linked Data

• MyVariant Identifiers: chr12:g.52314560T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51920776T>A , CM000674.2:g.51920776T>A	GRCh38
NC_000012.11:g.52314560T>A , CM000674.1:g.52314560T>A	GRCh37
NC_000012.10:g.50600827T>A	NCBI36
NG_009549.1:g.18359T>A , LRG_543:g.18359T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000547400.6:c.1125T>A	ENSP00000446724.2:p.Ala375=
ENST00000551576.6:c.1395T>A	ENSP00000455848.2:p.Ala465=
ENST00000388922.9:c.1395T>A MANE Select	ENSP00000373574.4:p.Ala465=
ENST00000388922.8:c.1395T>A	ENSP00000373574.4:p.Ala465=
ENST00000419526.6:c.873T>A	ENSP00000392492.2:p.Ala291=
ENST00000550683.5:c.1437T>A	ENSP00000447884.1:p.Ala479=
NM_000020.2:c.1395T>A , LRG_543t1:c.1395T>A	NP_000011.2:p.Ala465=
NM_001077401.1:c.1395T>A	NP_001070869.1:p.Ala465=
XM_005269235.2:c.1395T>A	XP_005269292.1:p.Ala465=
XM_011539008.1:c.1125T>A	XP_011537310.1:p.Ala375=
XM_024449279.1:c.606T>A	XP_024305047.1:p.Ala202=
NM_000020.3:c.1395T>A MANE Select	NP_000011.2:p.Ala465=
NM_001077401.2:c.1395T>A	NP_001070869.1:p.Ala465=