Canonical Allele Identifier: CA2325780519

Gene: ANKLE1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17283418C= , CM000681.2:g.17283418C=	GRCh38
NC_000019.9:g.17394227C= , CM000681.1:g.17394227C=	GRCh37
NC_000019.8:g.17255227C=	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000404085.7:c.654C= MANE Select	ENSP00000384008.3:p.Asp218=
ENST00000404261.9:c.654C=	ENSP00000384753.6:p.Asp218=
ENST00000594072.6:c.654C=	ENSP00000468845.4:p.Asp218=
ENST00000651416.1:n.871C=
ENST00000652132.1:c.621C=	ENSP00000498416.1:p.Asp207=
ENST00000394458.7:c.816C=	ENSP00000377971.4:p.Asp272=
ENST00000404085.5:c.*553C=	ENSP00000384008.2:n.*553C=
ENST00000404261.8:c.816C=	ENSP00000384753.5:p.Asp272=
ENST00000594072.5:c.816C=	ENSP00000468845.3:p.Asp272=
ENST00000596626.1:n.767C=
ENST00000598347.2:c.656C=
NM_001278443.1:c.783C=	NP_001265372.1:p.Asp261=
NM_001278444.1:c.816C=	NP_001265373.1:p.Asp272=
NM_001278445.1:c.720C=	NP_001265374.1:p.Asp240=
NM_152363.5:c.816C=	NP_689576.5:p.Asp272=
NR_103530.1:n.930C=
NM_001278443.2:c.621C=	NP_001265372.2:p.Asp207=
NM_001278444.2:c.654C=	NP_001265373.2:p.Asp218=
NM_001278445.2:c.612C=	NP_001265374.2:p.Asp204=
NM_152363.6:c.654C= MANE Select	NP_689576.6:p.Asp218=
NR_103530.2:n.674C=