Canonical Allele Identifier: CA2036269451

Gene: ACVRL1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51915302T= , CM000674.2:g.51915302T=	GRCh38
NC_000012.11:g.52309086T= , CM000674.1:g.52309086T=	GRCh37
NC_000012.10:g.50595353T=	NCBI36
NG_009549.1:g.12885T= , LRG_543:g.12885T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.580T=	ENSP00000446724.2:p.Ser194=
ENST00000551576.6:c.850T=	ENSP00000455848.2:p.Ser284=
ENST00000552678.2:c.850T=	ENSP00000457394.2:p.Ser284=
ENST00000388922.9:c.850T= MANE Select	ENSP00000373574.4:p.Ser284=
ENST00000388922.8:c.850T=	ENSP00000373574.4:p.Ser284=
ENST00000419526.6:c.328T=	ENSP00000392492.2:p.Ser110=
ENST00000550683.5:c.892T=	ENSP00000447884.1:p.Ser298=
NM_000020.2:c.850T= , LRG_543t1:c.850T=	NP_000011.2:p.Ser284=
NM_001077401.1:c.850T=	NP_001070869.1:p.Ser284=
XM_005269235.2:c.850T=	XP_005269292.1:p.Ser284=
XM_011539008.1:c.580T=	XP_011537310.1:p.Ser194=
XM_024449279.1:c.61T=	XP_024305047.1:p.Ser21=
NM_000020.3:c.850T= MANE Select	NP_000011.2:p.Ser284=
NM_001077401.2:c.850T=	NP_001070869.1:p.Ser284=