Canonical Allele Identifier: CA2036236725

Gene: ACVRL1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51916042C= , CM000674.2:g.51916042C=	GRCh38
NC_000012.11:g.52309826C= , CM000674.1:g.52309826C=	GRCh37
NC_000012.10:g.50596093C=	NCBI36
NG_009549.1:g.13625C= , LRG_543:g.13625C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.785C=	ENSP00000446724.2:p.Ala262=
ENST00000551576.6:c.1055C=	ENSP00000455848.2:p.Ala352=
ENST00000552678.2:c.1055C=	ENSP00000457394.2:p.Ala352=
ENST00000388922.9:c.1055C= MANE Select	ENSP00000373574.4:p.Ala352=
ENST00000388922.8:c.1055C=	ENSP00000373574.4:p.Ala352=
ENST00000419526.6:c.533C=	ENSP00000392492.2:p.Ala178=
ENST00000547632.1:n.330C=
ENST00000550683.5:c.1097C=	ENSP00000447884.1:p.Ala366=
ENST00000552678.1:c.60C=
NM_000020.2:c.1055C= , LRG_543t1:c.1055C=	NP_000011.2:p.Ala352=
NM_001077401.1:c.1055C=	NP_001070869.1:p.Ala352=
XM_005269235.2:c.1055C=	XP_005269292.1:p.Ala352=
XM_011539008.1:c.785C=	XP_011537310.1:p.Ala262=
XM_024449279.1:c.266C=	XP_024305047.1:p.Ala89=
NM_000020.3:c.1055C= MANE Select	NP_000011.2:p.Ala352=
NM_001077401.2:c.1055C=	NP_001070869.1:p.Ala352=