Canonical Allele Identifier: CA2036266042

Gene: ACVRL1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51912364C= , CM000674.2:g.51912364C=	GRCh38
NC_000012.11:g.52306148C= , CM000674.1:g.52306148C=	GRCh37
NC_000012.10:g.50592415C=	NCBI36
NG_009549.1:g.9947C= , LRG_543:g.9947C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.-69C=	ENSP00000446724.2:n.-69C=
ENST00000551576.6:c.-5-106C=	ENSP00000455848.2:n.-5-106C=
ENST00000552678.2:c.-5-106C=	ENSP00000457394.2:n.-5-106C=
ENST00000388922.9:c.-5-106C= MANE Select	ENSP00000373574.4:n.-5-106C=
ENST00000388922.8:c.-5-106C=	ENSP00000373574.4:n.-5-106C=
ENST00000547400.5:c.-69C=	ENSP00000446724.1:n.-69C=
ENST00000550683.5:c.-69C=	ENSP00000447884.1:n.-69C=
ENST00000551576.5:c.-5-106C=	ENSP00000455848.1:n.-5-106C=
NM_000020.2:c.-5-106C= , LRG_543t1:c.-5-106C=	NP_000011.2:n.-5-106C=
NM_001077401.1:c.-111C=	NP_001070869.1:n.-111C=
XM_005269235.2:c.-5-106C=	XP_005269292.1:n.-5-106C=
XM_011539008.1:c.-69C=	XP_011537310.1:n.-69C=
NM_000020.3:c.-5-106C= MANE Select	NP_000011.2:n.-5-106C=