Canonical Allele Identifier: CA404744833

Gene: ANKLE1

Linked Data

• gnomAD v4: 19-17283359-A-C
• MyVariant Identifiers: chr19:g.17394168A>C (hg19) ; chr19:g.17283359A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17283359A>C , CM000681.2:g.17283359A>C	GRCh38
NC_000019.9:g.17394168A>C , CM000681.1:g.17394168A>C	GRCh37
NC_000019.8:g.17255168A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000404085.7:c.595A>C MANE Select	ENSP00000384008.3:p.Thr199Pro
ENST00000404261.9:c.595A>C	ENSP00000384753.6:p.Thr199Pro
ENST00000594072.6:c.595A>C	ENSP00000468845.4:p.Thr199Pro
ENST00000651416.1:n.812A>C
ENST00000652132.1:c.562A>C	ENSP00000498416.1:p.Thr188Pro
ENST00000394458.7:c.757A>C	ENSP00000377971.4:p.Thr253Pro
ENST00000404085.5:c.*494A>C	ENSP00000384008.2:n.*494A>C
ENST00000404261.8:c.757A>C	ENSP00000384753.5:p.Thr253Pro
ENST00000594072.5:c.757A>C	ENSP00000468845.3:p.Thr253Pro
ENST00000596626.1:n.708A>C
ENST00000598347.2:c.597A>C
NM_001278443.1:c.724A>C	NP_001265372.1:p.Thr242Pro
NM_001278444.1:c.757A>C	NP_001265373.1:p.Thr253Pro
NM_001278445.1:c.661A>C	NP_001265374.1:p.Thr221Pro
NM_152363.5:c.757A>C	NP_689576.5:p.Thr253Pro
NR_103530.1:n.871A>C
NM_001278443.2:c.562A>C	NP_001265372.2:p.Thr188Pro
NM_001278444.2:c.595A>C	NP_001265373.2:p.Thr199Pro
NM_001278445.2:c.553A>C	NP_001265374.2:p.Thr185Pro
NM_152363.6:c.595A>C MANE Select	NP_689576.6:p.Thr199Pro
NR_103530.2:n.615A>C