Canonical Allele Identifier: CA506095543

Gene: ANKLE1

Linked Data

• MyVariant Identifiers: chr19:g.17394089G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17283280G>A , CM000681.2:g.17283280G>A	GRCh38
NC_000019.9:g.17394089G>A , CM000681.1:g.17394089G>A	GRCh37
NC_000019.8:g.17255089G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000404085.7:c.516G>A MANE Select	ENSP00000384008.3:p.Lys172=
ENST00000404261.9:c.516G>A	ENSP00000384753.6:p.Lys172=
ENST00000594072.6:c.516G>A	ENSP00000468845.4:p.Lys172=
ENST00000651416.1:n.733G>A
ENST00000652132.1:c.483G>A	ENSP00000498416.1:p.Lys161=
ENST00000394458.7:c.678G>A	ENSP00000377971.4:p.Lys226=
ENST00000404085.5:c.*415G>A	ENSP00000384008.2:n.*415G>A
ENST00000404261.8:c.678G>A	ENSP00000384753.5:p.Lys226=
ENST00000594072.5:c.678G>A	ENSP00000468845.3:p.Lys226=
ENST00000596626.1:n.629G>A
ENST00000598347.2:c.518G>A
NM_001278443.1:c.645G>A	NP_001265372.1:p.Lys215=
NM_001278444.1:c.678G>A	NP_001265373.1:p.Lys226=
NM_001278445.1:c.582G>A	NP_001265374.1:p.Lys194=
NM_152363.5:c.678G>A	NP_689576.5:p.Lys226=
NR_103530.1:n.792G>A
NM_001278443.2:c.483G>A	NP_001265372.2:p.Lys161=
NM_001278444.2:c.516G>A	NP_001265373.2:p.Lys172=
NM_001278445.2:c.474G>A	NP_001265374.2:p.Lys158=
NM_152363.6:c.516G>A MANE Select	NP_689576.6:p.Lys172=
NR_103530.2:n.536G>A