Canonical Allele Identifier: CA2036267877

Gene: ACVRL1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51913650G= , CM000674.2:g.51913650G=	GRCh38
NC_000012.11:g.52307434G= , CM000674.1:g.52307434G=	GRCh37
NC_000012.10:g.50593701G=	NCBI36
NG_009549.1:g.11233G= , LRG_543:g.11233G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.355+300G=	ENSP00000446724.2:n.355+300G=
ENST00000551576.6:c.405G=	ENSP00000455848.2:p.Leu135=
ENST00000552678.2:c.405G=	ENSP00000457394.2:p.Leu135=
ENST00000388922.9:c.405G= MANE Select	ENSP00000373574.4:p.Leu135=
ENST00000388922.8:c.405G=	ENSP00000373574.4:p.Leu135=
ENST00000419526.6:c.104-789G=	ENSP00000392492.2:n.104-789G=
ENST00000547400.5:c.355+300G=	ENSP00000446724.1:n.355+300G=
ENST00000550683.5:c.447G=	ENSP00000447884.1:p.Leu149=
NM_000020.2:c.405G= , LRG_543t1:c.405G=	NP_000011.2:p.Leu135=
NM_001077401.1:c.405G=	NP_001070869.1:p.Leu135=
XM_005269235.2:c.405G=	XP_005269292.1:p.Leu135=
XM_011539008.1:c.355+300G=	XP_011537310.1:n.355+300G=
XM_024449279.1:c.-285G=	XP_024305047.1:n.-285G=
NM_000020.3:c.405G= MANE Select	NP_000011.2:p.Leu135=
NM_001077401.2:c.405G=	NP_001070869.1:p.Leu135=