Canonical Allele Identifier: CA2036269508

Gene: ACVRL1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51915402T= , CM000674.2:g.51915402T=	GRCh38
NC_000012.11:g.52309186T= , CM000674.1:g.52309186T=	GRCh37
NC_000012.10:g.50595453T=	NCBI36
NG_009549.1:g.12985T= , LRG_543:g.12985T=

Transcript Alleles

HGVS	Amino-acid Change
NM_000020.3:c.950T= MANE Select	NP_000011.2:p.Ile317=
ENST00000388922.9:c.950T= MANE Select	ENSP00000373574.4:p.Ile317=
NM_000020.2:c.950T= , LRG_543t1:c.950T=	NP_000011.2:p.Ile317=
NM_001077401.1:c.950T=	NP_001070869.1:p.Ile317=
NM_001077401.2:c.950T=	NP_001070869.1:p.Ile317=
ENST00000388922.8:c.950T=	ENSP00000373574.4:p.Ile317=
ENST00000419526.6:c.428T=	ENSP00000392492.2:p.Ile143=
ENST00000547400.6:c.680T=	ENSP00000446724.2:p.Ile227=
ENST00000550683.5:c.992T=	ENSP00000447884.1:p.Ile331=
ENST00000551576.6:c.950T=	ENSP00000455848.2:p.Ile317=
ENST00000552678.2:c.950T=	ENSP00000457394.2:p.Ile317=
XM_005269235.2:c.950T=	XP_005269292.1:p.Ile317=
XM_011539008.1:c.680T=	XP_011537310.1:p.Ile227=
XM_024449279.1:c.161T=	XP_024305047.1:p.Ile54=