Canonical Allele Identifier: CA506095567

Gene: ANKLE1

Linked Data

• MyVariant Identifiers: chr19:g.17394119T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17283310T>A , CM000681.2:g.17283310T>A	GRCh38
NC_000019.9:g.17394119T>A , CM000681.1:g.17394119T>A	GRCh37
NC_000019.8:g.17255119T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000404085.7:c.546T>A MANE Select	ENSP00000384008.3:p.Ile182=
ENST00000404261.9:c.546T>A	ENSP00000384753.6:p.Ile182=
ENST00000594072.6:c.546T>A	ENSP00000468845.4:p.Ile182=
ENST00000651416.1:n.763T>A
ENST00000652132.1:c.513T>A	ENSP00000498416.1:p.Ile171=
ENST00000394458.7:c.708T>A	ENSP00000377971.4:p.Ile236=
ENST00000404085.5:c.*445T>A	ENSP00000384008.2:n.*445T>A
ENST00000404261.8:c.708T>A	ENSP00000384753.5:p.Ile236=
ENST00000594072.5:c.708T>A	ENSP00000468845.3:p.Ile236=
ENST00000596626.1:n.659T>A
ENST00000598347.2:c.548T>A
NM_001278443.1:c.675T>A	NP_001265372.1:p.Ile225=
NM_001278444.1:c.708T>A	NP_001265373.1:p.Ile236=
NM_001278445.1:c.612T>A	NP_001265374.1:p.Ile204=
NM_152363.5:c.708T>A	NP_689576.5:p.Ile236=
NR_103530.1:n.822T>A
NM_001278443.2:c.513T>A	NP_001265372.2:p.Ile171=
NM_001278444.2:c.546T>A	NP_001265373.2:p.Ile182=
NM_001278445.2:c.504T>A	NP_001265374.2:p.Ile168=
NM_152363.6:c.546T>A MANE Select	NP_689576.6:p.Ile182=
NR_103530.2:n.566T>A