Canonical Allele Identifier: CA2325780449

Gene: ANKLE1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17283275C= , CM000681.2:g.17283275C=	GRCh38
NC_000019.9:g.17394084C= , CM000681.1:g.17394084C=	GRCh37
NC_000019.8:g.17255084C=	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000404085.7:c.511C= MANE Select	ENSP00000384008.3:p.Gln171=
ENST00000404261.9:c.511C=	ENSP00000384753.6:p.Gln171=
ENST00000594072.6:c.511C=	ENSP00000468845.4:p.Gln171=
ENST00000651416.1:n.728C=
ENST00000652132.1:c.478C=	ENSP00000498416.1:p.Gln160=
ENST00000394458.7:c.673C=	ENSP00000377971.4:p.Gln225=
ENST00000404085.5:c.*410C=	ENSP00000384008.2:n.*410C=
ENST00000404261.8:c.673C=	ENSP00000384753.5:p.Gln225=
ENST00000594072.5:c.673C=	ENSP00000468845.3:p.Gln225=
ENST00000596626.1:n.624C=
ENST00000598347.2:c.513C=
NM_001278443.1:c.640C=	NP_001265372.1:p.Gln214=
NM_001278444.1:c.673C=	NP_001265373.1:p.Gln225=
NM_001278445.1:c.577C=	NP_001265374.1:p.Gln193=
NM_152363.5:c.673C=	NP_689576.5:p.Gln225=
NR_103530.1:n.787C=
NM_001278443.2:c.478C=	NP_001265372.2:p.Gln160=
NM_001278444.2:c.511C=	NP_001265373.2:p.Gln171=
NM_001278445.2:c.469C=	NP_001265374.2:p.Gln157=
NM_152363.6:c.511C= MANE Select	NP_689576.6:p.Gln171=
NR_103530.2:n.531C=