Canonical Allele Identifier: CA404744880

Gene: ANKLE1

Linked Data

• MyVariant Identifiers: chr19:g.17394189T>A (hg19) ; chr19:g.17283380T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17283380T>A , CM000681.2:g.17283380T>A	GRCh38
NC_000019.9:g.17394189T>A , CM000681.1:g.17394189T>A	GRCh37
NC_000019.8:g.17255189T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000404085.7:c.616T>A MANE Select	ENSP00000384008.3:p.Ser206Thr
ENST00000404261.9:c.616T>A	ENSP00000384753.6:p.Ser206Thr
ENST00000594072.6:c.616T>A	ENSP00000468845.4:p.Ser206Thr
ENST00000651416.1:n.833T>A
ENST00000652132.1:c.583T>A	ENSP00000498416.1:p.Ser195Thr
ENST00000394458.7:c.778T>A	ENSP00000377971.4:p.Ser260Thr
ENST00000404085.5:c.*515T>A	ENSP00000384008.2:n.*515T>A
ENST00000404261.8:c.778T>A	ENSP00000384753.5:p.Ser260Thr
ENST00000594072.5:c.778T>A	ENSP00000468845.3:p.Ser260Thr
ENST00000596626.1:n.729T>A
ENST00000598347.2:c.618T>A
NM_001278443.1:c.745T>A	NP_001265372.1:p.Ser249Thr
NM_001278444.1:c.778T>A	NP_001265373.1:p.Ser260Thr
NM_001278445.1:c.682T>A	NP_001265374.1:p.Ser228Thr
NM_152363.5:c.778T>A	NP_689576.5:p.Ser260Thr
NR_103530.1:n.892T>A
NM_001278443.2:c.583T>A	NP_001265372.2:p.Ser195Thr
NM_001278444.2:c.616T>A	NP_001265373.2:p.Ser206Thr
NM_001278445.2:c.574T>A	NP_001265374.2:p.Ser192Thr
NM_152363.6:c.616T>A MANE Select	NP_689576.6:p.Ser206Thr
NR_103530.2:n.636T>A