Canonical Allele Identifier: CA9291134

Gene: ANKLE1

Linked Data

• dbSNP Id: rs771907576
• ExAC: 19:17394134 C / T
• gnomAD v2: 19-17394134-C-T
• gnomAD v3: 19-17283325-C-T
• gnomAD v4: 19-17283325-C-T
• MyVariant Identifiers: chr19:g.17394134C>T (hg19) ; chr19:g.17283325C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17283325C>T , CM000681.2:g.17283325C>T	GRCh38
NC_000019.9:g.17394134C>T , CM000681.1:g.17394134C>T	GRCh37
NC_000019.8:g.17255134C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000404085.7:c.561C>T MANE Select	ENSP00000384008.3:p.Asp187=
ENST00000404261.9:c.561C>T	ENSP00000384753.6:p.Asp187=
ENST00000594072.6:c.561C>T	ENSP00000468845.4:p.Asp187=
ENST00000651416.1:n.778C>T
ENST00000652132.1:c.528C>T	ENSP00000498416.1:p.Asp176=
ENST00000394458.7:c.723C>T	ENSP00000377971.4:p.Asp241=
ENST00000404085.5:c.*460C>T	ENSP00000384008.2:n.*460C>T
ENST00000404261.8:c.723C>T	ENSP00000384753.5:p.Asp241=
ENST00000594072.5:c.723C>T	ENSP00000468845.3:p.Asp241=
ENST00000596626.1:n.674C>T
ENST00000598347.2:c.563C>T
NM_001278443.1:c.690C>T	NP_001265372.1:p.Asp230=
NM_001278444.1:c.723C>T	NP_001265373.1:p.Asp241=
NM_001278445.1:c.627C>T	NP_001265374.1:p.Asp209=
NM_152363.5:c.723C>T	NP_689576.5:p.Asp241=
NR_103530.1:n.837C>T
NM_001278443.2:c.528C>T	NP_001265372.2:p.Asp176=
NM_001278444.2:c.561C>T	NP_001265373.2:p.Asp187=
NM_001278445.2:c.519C>T	NP_001265374.2:p.Asp173=
NM_152363.6:c.561C>T MANE Select	NP_689576.6:p.Asp187=
NR_103530.2:n.581C>T