Canonical Allele Identifier: CA404744643

Gene: ANKLE1

Linked Data

• dbSNP Id: rs1340825220
• gnomAD v2: 19-17394076-T-C
• gnomAD v4: 19-17283267-T-C
• MyVariant Identifiers: chr19:g.17394076T>C (hg19) ; chr19:g.17283267T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17283267T>C , CM000681.2:g.17283267T>C	GRCh38
NC_000019.9:g.17394076T>C , CM000681.1:g.17394076T>C	GRCh37
NC_000019.8:g.17255076T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000404085.7:c.503T>C MANE Select	ENSP00000384008.3:p.Ile168Thr
ENST00000404261.9:c.503T>C	ENSP00000384753.6:p.Ile168Thr
ENST00000594072.6:c.503T>C	ENSP00000468845.4:p.Ile168Thr
ENST00000651416.1:n.720T>C
ENST00000652132.1:c.470T>C	ENSP00000498416.1:p.Ile157Thr
ENST00000394458.7:c.665T>C	ENSP00000377971.4:p.Ile222Thr
ENST00000404085.5:c.*402T>C	ENSP00000384008.2:n.*402T>C
ENST00000404261.8:c.665T>C	ENSP00000384753.5:p.Ile222Thr
ENST00000594072.5:c.665T>C	ENSP00000468845.3:p.Ile222Thr
ENST00000596626.1:n.616T>C
ENST00000598347.2:c.505T>C
NM_001278443.1:c.632T>C	NP_001265372.1:p.Ile211Thr
NM_001278444.1:c.665T>C	NP_001265373.1:p.Ile222Thr
NM_001278445.1:c.569T>C	NP_001265374.1:p.Ile190Thr
NM_152363.5:c.665T>C	NP_689576.5:p.Ile222Thr
NR_103530.1:n.779T>C
NM_001278443.2:c.470T>C	NP_001265372.2:p.Ile157Thr
NM_001278444.2:c.503T>C	NP_001265373.2:p.Ile168Thr
NM_001278445.2:c.461T>C	NP_001265374.2:p.Ile154Thr
NM_152363.6:c.503T>C MANE Select	NP_689576.6:p.Ile168Thr
NR_103530.2:n.523T>C