Canonical Allele Identifier: CA2036269490

Gene: ACVRL1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51915369C= , CM000674.2:g.51915369C=	GRCh38
NC_000012.11:g.52309153C= , CM000674.1:g.52309153C=	GRCh37
NC_000012.10:g.50595420C=	NCBI36
NG_009549.1:g.12952C= , LRG_543:g.12952C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000547400.6:c.647C=	ENSP00000446724.2:p.Ala216=
ENST00000551576.6:c.917C=	ENSP00000455848.2:p.Ala306=
ENST00000552678.2:c.917C=	ENSP00000457394.2:p.Ala306=
ENST00000388922.9:c.917C= MANE Select	ENSP00000373574.4:p.Ala306=
ENST00000388922.8:c.917C=	ENSP00000373574.4:p.Ala306=
ENST00000419526.6:c.395C=	ENSP00000392492.2:p.Ala132=
ENST00000550683.5:c.959C=	ENSP00000447884.1:p.Ala320=
NM_000020.2:c.917C= , LRG_543t1:c.917C=	NP_000011.2:p.Ala306=
NM_001077401.1:c.917C=	NP_001070869.1:p.Ala306=
XM_005269235.2:c.917C=	XP_005269292.1:p.Ala306=
XM_011539008.1:c.647C=	XP_011537310.1:p.Ala216=
XM_024449279.1:c.128C=	XP_024305047.1:p.Ala43=
NM_000020.3:c.917C= MANE Select	NP_000011.2:p.Ala306=
NM_001077401.2:c.917C=	NP_001070869.1:p.Ala306=