Canonical Allele Identifier: CA2036236837

Gene: ACVRL1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51916100C= , CM000674.2:g.51916100C=	GRCh38
NC_000012.11:g.52309884C= , CM000674.1:g.52309884C=	GRCh37
NC_000012.10:g.50596151C=	NCBI36
NG_009549.1:g.13683C= , LRG_543:g.13683C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.843C=	ENSP00000446724.2:p.Gly281=
ENST00000551576.6:c.1113C=	ENSP00000455848.2:p.Gly371=
ENST00000552678.2:c.1113C=	ENSP00000457394.2:p.Gly371=
ENST00000388922.9:c.1113C= MANE Select	ENSP00000373574.4:p.Gly371=
ENST00000388922.8:c.1113C=	ENSP00000373574.4:p.Gly371=
ENST00000419526.6:c.591C=	ENSP00000392492.2:p.Gly197=
ENST00000547632.1:n.388C=
ENST00000550683.5:c.1155C=	ENSP00000447884.1:p.Gly385=
ENST00000552678.1:c.118C=
NM_000020.2:c.1113C= , LRG_543t1:c.1113C=	NP_000011.2:p.Gly371=
NM_001077401.1:c.1113C=	NP_001070869.1:p.Gly371=
XM_005269235.2:c.1113C=	XP_005269292.1:p.Gly371=
XM_011539008.1:c.843C=	XP_011537310.1:p.Gly281=
XM_024449279.1:c.324C=	XP_024305047.1:p.Gly108=
NM_000020.3:c.1113C= MANE Select	NP_000011.2:p.Gly371=
NM_001077401.2:c.1113C=	NP_001070869.1:p.Gly371=