Canonical Allele Identifier: CA9291133

Gene: ANKLE1

Linked Data

• dbSNP Id: rs761751760
• ExAC: 19:17394130 C / G
• gnomAD v2: 19-17394130-C-G
• gnomAD v4: 19-17283321-C-G
• MyVariant Identifiers: chr19:g.17394130C>G (hg19) ; chr19:g.17283321C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17283321C>G , CM000681.2:g.17283321C>G	GRCh38
NC_000019.9:g.17394130C>G , CM000681.1:g.17394130C>G	GRCh37
NC_000019.8:g.17255130C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000404085.7:c.557C>G MANE Select	ENSP00000384008.3:p.Ala186Gly
ENST00000404261.9:c.557C>G	ENSP00000384753.6:p.Ala186Gly
ENST00000594072.6:c.557C>G	ENSP00000468845.4:p.Ala186Gly
ENST00000651416.1:n.774C>G
ENST00000652132.1:c.524C>G	ENSP00000498416.1:p.Ala175Gly
ENST00000394458.7:c.719C>G	ENSP00000377971.4:p.Ala240Gly
ENST00000404085.5:c.*456C>G	ENSP00000384008.2:n.*456C>G
ENST00000404261.8:c.719C>G	ENSP00000384753.5:p.Ala240Gly
ENST00000594072.5:c.719C>G	ENSP00000468845.3:p.Ala240Gly
ENST00000596626.1:n.670C>G
ENST00000598347.2:c.559C>G
NM_001278443.1:c.686C>G	NP_001265372.1:p.Ala229Gly
NM_001278444.1:c.719C>G	NP_001265373.1:p.Ala240Gly
NM_001278445.1:c.623C>G	NP_001265374.1:p.Ala208Gly
NM_152363.5:c.719C>G	NP_689576.5:p.Ala240Gly
NR_103530.1:n.833C>G
NM_001278443.2:c.524C>G	NP_001265372.2:p.Ala175Gly
NM_001278444.2:c.557C>G	NP_001265373.2:p.Ala186Gly
NM_001278445.2:c.515C>G	NP_001265374.2:p.Ala172Gly
NM_152363.6:c.557C>G MANE Select	NP_689576.6:p.Ala186Gly
NR_103530.2:n.577C>G