Canonical Allele Identifier: CA2325780467

Gene: ANKLE1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17283317G= , CM000681.2:g.17283317G=	GRCh38
NC_000019.9:g.17394126G= , CM000681.1:g.17394126G=	GRCh37
NC_000019.8:g.17255126G=	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000404085.7:c.553G= MANE Select	ENSP00000384008.3:p.Glu185=
ENST00000404261.9:c.553G=	ENSP00000384753.6:p.Glu185=
ENST00000594072.6:c.553G=	ENSP00000468845.4:p.Glu185=
ENST00000651416.1:n.770G=
ENST00000652132.1:c.520G=	ENSP00000498416.1:p.Glu174=
ENST00000394458.7:c.715G=	ENSP00000377971.4:p.Glu239=
ENST00000404085.5:c.*452G=	ENSP00000384008.2:n.*452G=
ENST00000404261.8:c.715G=	ENSP00000384753.5:p.Glu239=
ENST00000594072.5:c.715G=	ENSP00000468845.3:p.Glu239=
ENST00000596626.1:n.666G=
ENST00000598347.2:c.555G=
NM_001278443.1:c.682G=	NP_001265372.1:p.Glu228=
NM_001278444.1:c.715G=	NP_001265373.1:p.Glu239=
NM_001278445.1:c.619G=	NP_001265374.1:p.Glu207=
NM_152363.5:c.715G=	NP_689576.5:p.Glu239=
NR_103530.1:n.829G=
NM_001278443.2:c.520G=	NP_001265372.2:p.Glu174=
NM_001278444.2:c.553G=	NP_001265373.2:p.Glu185=
NM_001278445.2:c.511G=	NP_001265374.2:p.Glu171=
NM_152363.6:c.553G= MANE Select	NP_689576.6:p.Glu185=
NR_103530.2:n.573G=