Canonical Allele Identifier: CA2036269521

Gene: ACVRL1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51915430T= , CM000674.2:g.51915430T=	GRCh38
NC_000012.11:g.52309214T= , CM000674.1:g.52309214T=	GRCh37
NC_000012.10:g.50595481T=	NCBI36
NG_009549.1:g.13013T= , LRG_543:g.13013T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.708T=	ENSP00000446724.2:p.Ile236=
ENST00000551576.6:c.978T=	ENSP00000455848.2:p.Ile326=
ENST00000552678.2:c.978T=	ENSP00000457394.2:p.Ile326=
ENST00000388922.9:c.978T= MANE Select	ENSP00000373574.4:p.Ile326=
ENST00000388922.8:c.978T=	ENSP00000373574.4:p.Ile326=
ENST00000419526.6:c.456T=	ENSP00000392492.2:p.Ile152=
ENST00000550683.5:c.1020T=	ENSP00000447884.1:p.Ile340=
NM_000020.2:c.978T= , LRG_543t1:c.978T=	NP_000011.2:p.Ile326=
NM_001077401.1:c.978T=	NP_001070869.1:p.Ile326=
XM_005269235.2:c.978T=	XP_005269292.1:p.Ile326=
XM_011539008.1:c.708T=	XP_011537310.1:p.Ile236=
XM_024449279.1:c.189T=	XP_024305047.1:p.Ile63=
NM_000020.3:c.978T= MANE Select	NP_000011.2:p.Ile326=
NM_001077401.2:c.978T=	NP_001070869.1:p.Ile326=