Canonical Allele Identifier: CA2036237134

Gene: ACVRL1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51916218C= , CM000674.2:g.51916218C=	GRCh38
NC_000012.11:g.52310002C= , CM000674.1:g.52310002C=	GRCh37
NC_000012.10:g.50596269C=	NCBI36
NG_009549.1:g.13801C= , LRG_543:g.13801C=

Transcript Alleles

HGVS	Amino-acid Change
NM_000020.3:c.1231C= MANE Select	NP_000011.2:p.Arg411=
ENST00000388922.9:c.1231C= MANE Select	ENSP00000373574.4:p.Arg411=
NM_000020.2:c.1231C= , LRG_543t1:c.1231C=	NP_000011.2:p.Arg411=
NM_001077401.1:c.1231C=	NP_001070869.1:p.Arg411=
NM_001077401.2:c.1231C=	NP_001070869.1:p.Arg411=
ENST00000388922.8:c.1231C=	ENSP00000373574.4:p.Arg411=
ENST00000419526.6:c.709C=	ENSP00000392492.2:p.Arg237=
ENST00000547400.6:c.961C=	ENSP00000446724.2:p.Arg321=
ENST00000547632.1:n.506C=
ENST00000550683.5:c.1273C=	ENSP00000447884.1:p.Arg425=
ENST00000551576.6:c.1231C=	ENSP00000455848.2:p.Arg411=
ENST00000552678.1:c.236C=
ENST00000552678.2:c.1231C=	ENSP00000457394.2:p.Arg411=
XM_005269235.2:c.1231C=	XP_005269292.1:p.Arg411=
XM_011539008.1:c.961C=	XP_011537310.1:p.Arg321=
XM_024449279.1:c.442C=	XP_024305047.1:p.Arg148=