Canonical Allele Identifier: CA2036236795

Gene: ACVRL1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51916080G= , CM000674.2:g.51916080G=	GRCh38
NC_000012.11:g.52309864G= , CM000674.1:g.52309864G=	GRCh37
NC_000012.10:g.50596131G=	NCBI36
NG_009549.1:g.13663G= , LRG_543:g.13663G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000547400.6:c.823G=	ENSP00000446724.2:p.Gly275=
ENST00000551576.6:c.1093G=	ENSP00000455848.2:p.Gly365=
ENST00000552678.2:c.1093G=	ENSP00000457394.2:p.Gly365=
ENST00000388922.9:c.1093G= MANE Select	ENSP00000373574.4:p.Gly365=
ENST00000388922.8:c.1093G=	ENSP00000373574.4:p.Gly365=
ENST00000419526.6:c.571G=	ENSP00000392492.2:p.Gly191=
ENST00000547632.1:n.368G=
ENST00000550683.5:c.1135G=	ENSP00000447884.1:p.Gly379=
ENST00000552678.1:c.98G=
NM_000020.2:c.1093G= , LRG_543t1:c.1093G=	NP_000011.2:p.Gly365=
NM_001077401.1:c.1093G=	NP_001070869.1:p.Gly365=
XM_005269235.2:c.1093G=	XP_005269292.1:p.Gly365=
XM_011539008.1:c.823G=	XP_011537310.1:p.Gly275=
XM_024449279.1:c.304G=	XP_024305047.1:p.Gly102=
NM_000020.3:c.1093G= MANE Select	NP_000011.2:p.Gly365=
NM_001077401.2:c.1093G=	NP_001070869.1:p.Gly365=