Canonical Allele Identifier: CA2036267981

Gene: ACVRL1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51913767G= , CM000674.2:g.51913767G=	GRCh38
NC_000012.11:g.52307551G= , CM000674.1:g.52307551G=	GRCh37
NC_000012.10:g.50593818G=	NCBI36
NG_009549.1:g.11350G= , LRG_543:g.11350G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.355+417G=	ENSP00000446724.2:n.355+417G=
ENST00000551576.6:c.522G=	ENSP00000455848.2:p.Leu174=
ENST00000552678.2:c.522G=	ENSP00000457394.2:p.Leu174=
ENST00000388922.9:c.522G= MANE Select	ENSP00000373574.4:p.Leu174=
ENST00000388922.8:c.522G=	ENSP00000373574.4:p.Leu174=
ENST00000419526.6:c.104-672G=	ENSP00000392492.2:n.104-672G=
ENST00000547400.5:c.355+417G=	ENSP00000446724.1:n.355+417G=
ENST00000550683.5:c.564G=	ENSP00000447884.1:p.Leu188=
NM_000020.2:c.522G= , LRG_543t1:c.522G=	NP_000011.2:p.Leu174=
NM_001077401.1:c.522G=	NP_001070869.1:p.Leu174=
XM_005269235.2:c.522G=	XP_005269292.1:p.Leu174=
XM_011539008.1:c.355+417G=	XP_011537310.1:n.355+417G=
XM_024449279.1:c.-168G=	XP_024305047.1:n.-168G=
NM_000020.3:c.522G= MANE Select	NP_000011.2:p.Leu174=
NM_001077401.2:c.522G=	NP_001070869.1:p.Leu174=