Canonical Allele Identifier: CA506095639

Gene: ANKLE1

Linked Data

• MyVariant Identifiers: chr19:g.17394170T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17283361T>G , CM000681.2:g.17283361T>G	GRCh38
NC_000019.9:g.17394170T>G , CM000681.1:g.17394170T>G	GRCh37
NC_000019.8:g.17255170T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000404085.7:c.597T>G MANE Select	ENSP00000384008.3:p.Thr199=
ENST00000404261.9:c.597T>G	ENSP00000384753.6:p.Thr199=
ENST00000594072.6:c.597T>G	ENSP00000468845.4:p.Thr199=
ENST00000651416.1:n.814T>G
ENST00000652132.1:c.564T>G	ENSP00000498416.1:p.Thr188=
ENST00000394458.7:c.759T>G	ENSP00000377971.4:p.Thr253=
ENST00000404085.5:c.*496T>G	ENSP00000384008.2:n.*496T>G
ENST00000404261.8:c.759T>G	ENSP00000384753.5:p.Thr253=
ENST00000594072.5:c.759T>G	ENSP00000468845.3:p.Thr253=
ENST00000596626.1:n.710T>G
ENST00000598347.2:c.599T>G
NM_001278443.1:c.726T>G	NP_001265372.1:p.Thr242=
NM_001278444.1:c.759T>G	NP_001265373.1:p.Thr253=
NM_001278445.1:c.663T>G	NP_001265374.1:p.Thr221=
NM_152363.5:c.759T>G	NP_689576.5:p.Thr253=
NR_103530.1:n.873T>G
NM_001278443.2:c.564T>G	NP_001265372.2:p.Thr188=
NM_001278444.2:c.597T>G	NP_001265373.2:p.Thr199=
NM_001278445.2:c.555T>G	NP_001265374.2:p.Thr185=
NM_152363.6:c.597T>G MANE Select	NP_689576.6:p.Thr199=
NR_103530.2:n.617T>G