Canonical Allele Identifier: CA2036237188

Gene: ACVRL1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51916235T= , CM000674.2:g.51916235T=	GRCh38
NC_000012.11:g.52310019T= , CM000674.1:g.52310019T=	GRCh37
NC_000012.10:g.50596286T=	NCBI36
NG_009549.1:g.13818T= , LRG_543:g.13818T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.976+2T=	ENSP00000446724.2:n.976+2T=
ENST00000551576.6:c.1246+2T=	ENSP00000455848.2:n.1246+2T=
ENST00000552678.2:c.1246+2T=	ENSP00000457394.2:n.1246+2T=
ENST00000388922.9:c.1246+2T= MANE Select	ENSP00000373574.4:n.1246+2T=
ENST00000388922.8:c.1246+2T=	ENSP00000373574.4:n.1246+2T=
ENST00000419526.6:c.724+2T=	ENSP00000392492.2:n.724+2T=
ENST00000547632.1:n.521+2T=
ENST00000550683.5:c.1288+2T=	ENSP00000447884.1:n.1288+2T=
ENST00000552678.1:c.251+2T=
NM_000020.2:c.1246+2T= , LRG_543t1:c.1246+2T=	NP_000011.2:n.1246+2T=
NM_001077401.1:c.1246+2T=	NP_001070869.1:n.1246+2T=
XM_005269235.2:c.1246+2T=	XP_005269292.1:n.1246+2T=
XM_011539008.1:c.976+2T=	XP_011537310.1:n.976+2T=
XM_024449279.1:c.457+2T=	XP_024305047.1:n.457+2T=
NM_000020.3:c.1246+2T= MANE Select	NP_000011.2:n.1246+2T=
NM_001077401.2:c.1246+2T=	NP_001070869.1:n.1246+2T=