Canonical Allele Identifier: CA9291009

Gene: ANKLE1 USHBP1

Linked Data - Expert Curation

Linked Data - Predicted Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17282085G>A , CM000681.2:g.17282085G>A	GRCh38
NC_000019.9:g.17392894G>A , CM000681.1:g.17392894G>A	GRCh37
NC_000019.8:g.17253894G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000404085.7:c.91G>A (ANKLE1) MANE Select	ENSP00000384008.3:p.Ala31Thr
ENST00000404261.9:c.91G>A (ANKLE1)	ENSP00000384753.6:p.Ala31Thr
ENST00000594072.6:c.91G>A (ANKLE1)	ENSP00000468845.4:p.Ala31Thr
ENST00000651416.1:n.308G>A (ANKLE1)
ENST00000652132.1:c.58G>A (ANKLE1)	ENSP00000498416.1:p.Ala20Thr
ENST00000394458.7:c.253G>A (ANKLE1)	ENSP00000377971.4:p.Ala85Thr
ENST00000404085.5:c.248G>A (ANKLE1)	ENSP00000384008.2:p.Arg83His
ENST00000404261.8:c.253G>A (ANKLE1)	ENSP00000384753.5:p.Ala85Thr
ENST00000594072.5:c.253G>A (ANKLE1)	ENSP00000468845.3:p.Ala85Thr
ENST00000596542.1:c.*424G>A	ENSP00000469159.2:n.*424G>A
ENST00000596626.1:n.102G>A (ANKLE1)
ENST00000596834.1:n.37G>A (ANKLE1)
ENST00000598309.1:c.-201+451C>T (USHBP1)	ENSP00000471680.1:n.-201+451C>T
ENST00000598347.2:c.93G>A (ANKLE1)
ENST00000601401.5:n.423G>A (ANKLE1)
NM_001278443.1:c.220G>A (ANKLE1)	NP_001265372.1:p.Ala74Thr
NM_001278444.1:c.253G>A (ANKLE1)	NP_001265373.1:p.Ala85Thr
NM_001278445.1:c.157G>A (ANKLE1)	NP_001265374.1:p.Ala53Thr
NM_152363.5:c.253G>A (ANKLE1)	NP_689576.5:p.Ala85Thr
NR_103530.1:n.367G>A (ANKLE1)
NM_001278443.2:c.58G>A (ANKLE1)	NP_001265372.2:p.Ala20Thr
NM_001278444.2:c.91G>A (ANKLE1)	NP_001265373.2:p.Ala31Thr
NM_001278445.2:c.49G>A (ANKLE1)	NP_001265374.2:p.Ala17Thr
NM_152363.6:c.91G>A (ANKLE1) MANE Select	NP_689576.6:p.Ala31Thr
NR_103530.2:n.111G>A (ANKLE1)