Canonical Allele Identifier: CA2325780471

Gene: ANKLE1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17283322T= , CM000681.2:g.17283322T=	GRCh38
NC_000019.9:g.17394131T= , CM000681.1:g.17394131T=	GRCh37
NC_000019.8:g.17255131T=	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000404085.7:c.558T= MANE Select	ENSP00000384008.3:p.Ala186=
ENST00000404261.9:c.558T=	ENSP00000384753.6:p.Ala186=
ENST00000594072.6:c.558T=	ENSP00000468845.4:p.Ala186=
ENST00000651416.1:n.775T=
ENST00000652132.1:c.525T=	ENSP00000498416.1:p.Ala175=
ENST00000394458.7:c.720T=	ENSP00000377971.4:p.Ala240=
ENST00000404085.5:c.*457T=	ENSP00000384008.2:n.*457T=
ENST00000404261.8:c.720T=	ENSP00000384753.5:p.Ala240=
ENST00000594072.5:c.720T=	ENSP00000468845.3:p.Ala240=
ENST00000596626.1:n.671T=
ENST00000598347.2:c.560T=
NM_001278443.1:c.687T=	NP_001265372.1:p.Ala229=
NM_001278444.1:c.720T=	NP_001265373.1:p.Ala240=
NM_001278445.1:c.624T=	NP_001265374.1:p.Ala208=
NM_152363.5:c.720T=	NP_689576.5:p.Ala240=
NR_103530.1:n.834T=
NM_001278443.2:c.525T=	NP_001265372.2:p.Ala175=
NM_001278444.2:c.558T=	NP_001265373.2:p.Ala186=
NM_001278445.2:c.516T=	NP_001265374.2:p.Ala172=
NM_152363.6:c.558T= MANE Select	NP_689576.6:p.Ala186=
NR_103530.2:n.578T=