Canonical Allele Identifier: CA2036267936

Gene: ACVRL1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51913733T= , CM000674.2:g.51913733T=	GRCh38
NC_000012.11:g.52307517T= , CM000674.1:g.52307517T=	GRCh37
NC_000012.10:g.50593784T=	NCBI36
NG_009549.1:g.11316T= , LRG_543:g.11316T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.355+383T=	ENSP00000446724.2:n.355+383T=
ENST00000551576.6:c.488T=	ENSP00000455848.2:p.Ile163=
ENST00000552678.2:c.488T=	ENSP00000457394.2:p.Ile163=
ENST00000388922.9:c.488T= MANE Select	ENSP00000373574.4:p.Ile163=
ENST00000388922.8:c.488T=	ENSP00000373574.4:p.Ile163=
ENST00000419526.6:c.104-706T=	ENSP00000392492.2:n.104-706T=
ENST00000547400.5:c.355+383T=	ENSP00000446724.1:n.355+383T=
ENST00000550683.5:c.530T=	ENSP00000447884.1:p.Ile177=
NM_000020.2:c.488T= , LRG_543t1:c.488T=	NP_000011.2:p.Ile163=
NM_001077401.1:c.488T=	NP_001070869.1:p.Ile163=
XM_005269235.2:c.488T=	XP_005269292.1:p.Ile163=
XM_011539008.1:c.355+383T=	XP_011537310.1:n.355+383T=
XM_024449279.1:c.-202T=	XP_024305047.1:n.-202T=
NM_000020.3:c.488T= MANE Select	NP_000011.2:p.Ile163=
NM_001077401.2:c.488T=	NP_001070869.1:p.Ile163=