Canonical Allele Identifier: CA404744881

Gene: ANKLE1

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000404085.7:c.616T>C MANE Select	ENSP00000384008.3:p.Ser206Pro
ENST00000404261.9:c.616T>C	ENSP00000384753.6:p.Ser206Pro
ENST00000594072.6:c.616T>C	ENSP00000468845.4:p.Ser206Pro
ENST00000651416.1:n.833T>C
ENST00000652132.1:c.583T>C	ENSP00000498416.1:p.Ser195Pro
ENST00000394458.7:c.778T>C	ENSP00000377971.4:p.Ser260Pro
ENST00000404085.5:c.*515T>C	ENSP00000384008.2:n.*515T>C
ENST00000404261.8:c.778T>C	ENSP00000384753.5:p.Ser260Pro
ENST00000594072.5:c.778T>C	ENSP00000468845.3:p.Ser260Pro
ENST00000596626.1:n.729T>C
ENST00000598347.2:c.618T>C
NM_001278443.1:c.745T>C	NP_001265372.1:p.Ser249Pro
NM_001278444.1:c.778T>C	NP_001265373.1:p.Ser260Pro
NM_001278445.1:c.682T>C	NP_001265374.1:p.Ser228Pro
NM_152363.5:c.778T>C	NP_689576.5:p.Ser260Pro
NR_103530.1:n.892T>C
NM_001278443.2:c.583T>C	NP_001265372.2:p.Ser195Pro
NM_001278444.2:c.616T>C	NP_001265373.2:p.Ser206Pro
NM_001278445.2:c.574T>C	NP_001265374.2:p.Ser192Pro
NM_152363.6:c.616T>C MANE Select	NP_689576.6:p.Ser206Pro
NR_103530.2:n.636T>C