Canonical Allele Identifier: CA506095479

Gene: ANKLE1

Linked Data

• MyVariant Identifiers: chr19:g.17394056C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17283247C>A , CM000681.2:g.17283247C>A	GRCh38
NC_000019.9:g.17394056C>A , CM000681.1:g.17394056C>A	GRCh37
NC_000019.8:g.17255056C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000404085.7:c.483C>A MANE Select	ENSP00000384008.3:p.Thr161=
ENST00000404261.9:c.483C>A	ENSP00000384753.6:p.Thr161=
ENST00000594072.6:c.483C>A	ENSP00000468845.4:p.Thr161=
ENST00000651416.1:n.700C>A
ENST00000652132.1:c.450C>A	ENSP00000498416.1:p.Thr150=
ENST00000394458.7:c.645C>A	ENSP00000377971.4:p.Thr215=
ENST00000404085.5:c.*382C>A	ENSP00000384008.2:n.*382C>A
ENST00000404261.8:c.645C>A	ENSP00000384753.5:p.Thr215=
ENST00000594072.5:c.645C>A	ENSP00000468845.3:p.Thr215=
ENST00000596626.1:n.596C>A
ENST00000598347.2:c.485C>A
NM_001278443.1:c.612C>A	NP_001265372.1:p.Thr204=
NM_001278444.1:c.645C>A	NP_001265373.1:p.Thr215=
NM_001278445.1:c.549C>A	NP_001265374.1:p.Thr183=
NM_152363.5:c.645C>A	NP_689576.5:p.Thr215=
NR_103530.1:n.759C>A
NM_001278443.2:c.450C>A	NP_001265372.2:p.Thr150=
NM_001278444.2:c.483C>A	NP_001265373.2:p.Thr161=
NM_001278445.2:c.441C>A	NP_001265374.2:p.Thr147=
NM_152363.6:c.483C>A MANE Select	NP_689576.6:p.Thr161=
NR_103530.2:n.503C>A