Canonical Allele Identifier: CA2588340210

Gene: ACVRL1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51913188T= , CM000674.2:g.51913188T=	GRCh38
NC_000012.11:g.52306972T= , CM000674.1:g.52306972T=	GRCh37
NC_000012.10:g.50593239T=	NCBI36
NG_009549.1:g.10771T= , LRG_543:g.10771T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.193T=	ENSP00000446724.2:p.Cys65=
ENST00000551576.6:c.151T=	ENSP00000455848.2:p.Cys51=
ENST00000552678.2:c.151T=	ENSP00000457394.2:p.Cys51=
ENST00000388922.9:c.151T= MANE Select	ENSP00000373574.4:p.Cys51=
ENST00000388922.8:c.151T=	ENSP00000373574.4:p.Cys51=
ENST00000419526.6:c.103+653T=	ENSP00000392492.2:n.103+653T=
ENST00000547400.5:c.193T=	ENSP00000446724.1:p.Cys65=
ENST00000550683.5:c.193T=	ENSP00000447884.1:p.Cys65=
ENST00000551576.5:c.151T=	ENSP00000455848.1:p.Cys51=
NM_000020.2:c.151T= , LRG_543t1:c.151T=	NP_000011.2:p.Cys51=
NM_001077401.1:c.151T=	NP_001070869.1:p.Cys51=
XM_005269235.2:c.151T=	XP_005269292.1:p.Cys51=
XM_011539008.1:c.193T=	XP_011537310.1:p.Cys65=
NM_000020.3:c.151T= MANE Select	NP_000011.2:p.Cys51=
NM_001077401.2:c.151T=	NP_001070869.1:p.Cys51=