Canonical Allele Identifier: CA2036267865

Gene: ACVRL1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51913626G= , CM000674.2:g.51913626G=	GRCh38
NC_000012.11:g.52307410G= , CM000674.1:g.52307410G=	GRCh37
NC_000012.10:g.50593677G=	NCBI36
NG_009549.1:g.11209G= , LRG_543:g.11209G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.355+276G=	ENSP00000446724.2:n.355+276G=
ENST00000551576.6:c.381G=	ENSP00000455848.2:p.Leu127=
ENST00000552678.2:c.381G=	ENSP00000457394.2:p.Leu127=
ENST00000388922.9:c.381G= MANE Select	ENSP00000373574.4:p.Leu127=
ENST00000388922.8:c.381G=	ENSP00000373574.4:p.Leu127=
ENST00000419526.6:c.104-813G=	ENSP00000392492.2:n.104-813G=
ENST00000547400.5:c.355+276G=	ENSP00000446724.1:n.355+276G=
ENST00000550683.5:c.423G=	ENSP00000447884.1:p.Leu141=
NM_000020.2:c.381G= , LRG_543t1:c.381G=	NP_000011.2:p.Leu127=
NM_001077401.1:c.381G=	NP_001070869.1:p.Leu127=
XM_005269235.2:c.381G=	XP_005269292.1:p.Leu127=
XM_011539008.1:c.355+276G=	XP_011537310.1:n.355+276G=
XM_024449279.1:c.-309G=	XP_024305047.1:n.-309G=
NM_000020.3:c.381G= MANE Select	NP_000011.2:p.Leu127=
NM_001077401.2:c.381G=	NP_001070869.1:p.Leu127=