Canonical Allele Identifier: CA2325780497

Gene: ANKLE1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17283363T= , CM000681.2:g.17283363T=	GRCh38
NC_000019.9:g.17394172T= , CM000681.1:g.17394172T=	GRCh37
NC_000019.8:g.17255172T=	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000404085.7:c.599T= MANE Select	ENSP00000384008.3:p.Val200=
ENST00000404261.9:c.599T=	ENSP00000384753.6:p.Val200=
ENST00000594072.6:c.599T=	ENSP00000468845.4:p.Val200=
ENST00000651416.1:n.816T=
ENST00000652132.1:c.566T=	ENSP00000498416.1:p.Val189=
ENST00000394458.7:c.761T=	ENSP00000377971.4:p.Val254=
ENST00000404085.5:c.*498T=	ENSP00000384008.2:n.*498T=
ENST00000404261.8:c.761T=	ENSP00000384753.5:p.Val254=
ENST00000594072.5:c.761T=	ENSP00000468845.3:p.Val254=
ENST00000596626.1:n.712T=
ENST00000598347.2:c.601T=
NM_001278443.1:c.728T=	NP_001265372.1:p.Val243=
NM_001278444.1:c.761T=	NP_001265373.1:p.Val254=
NM_001278445.1:c.665T=	NP_001265374.1:p.Val222=
NM_152363.5:c.761T=	NP_689576.5:p.Val254=
NR_103530.1:n.875T=
NM_001278443.2:c.566T=	NP_001265372.2:p.Val189=
NM_001278444.2:c.599T=	NP_001265373.2:p.Val200=
NM_001278445.2:c.557T=	NP_001265374.2:p.Val186=
NM_152363.6:c.599T= MANE Select	NP_689576.6:p.Val200=
NR_103530.2:n.619T=