Canonical Allele Identifier: CA506095519

Gene: ANKLE1

Linked Data

• MyVariant Identifiers: chr19:g.17394074C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17283265C>A , CM000681.2:g.17283265C>A	GRCh38
NC_000019.9:g.17394074C>A , CM000681.1:g.17394074C>A	GRCh37
NC_000019.8:g.17255074C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000404085.7:c.501C>A MANE Select	ENSP00000384008.3:p.Ser167=
ENST00000404261.9:c.501C>A	ENSP00000384753.6:p.Ser167=
ENST00000594072.6:c.501C>A	ENSP00000468845.4:p.Ser167=
ENST00000651416.1:n.718C>A
ENST00000652132.1:c.468C>A	ENSP00000498416.1:p.Ser156=
ENST00000394458.7:c.663C>A	ENSP00000377971.4:p.Ser221=
ENST00000404085.5:c.*400C>A	ENSP00000384008.2:n.*400C>A
ENST00000404261.8:c.663C>A	ENSP00000384753.5:p.Ser221=
ENST00000594072.5:c.663C>A	ENSP00000468845.3:p.Ser221=
ENST00000596626.1:n.614C>A
ENST00000598347.2:c.503C>A
NM_001278443.1:c.630C>A	NP_001265372.1:p.Ser210=
NM_001278444.1:c.663C>A	NP_001265373.1:p.Ser221=
NM_001278445.1:c.567C>A	NP_001265374.1:p.Ser189=
NM_152363.5:c.663C>A	NP_689576.5:p.Ser221=
NR_103530.1:n.777C>A
NM_001278443.2:c.468C>A	NP_001265372.2:p.Ser156=
NM_001278444.2:c.501C>A	NP_001265373.2:p.Ser167=
NM_001278445.2:c.459C>A	NP_001265374.2:p.Ser153=
NM_152363.6:c.501C>A MANE Select	NP_689576.6:p.Ser167=
NR_103530.2:n.521C>A