Canonical Allele Identifier: CA9291132

Gene: ANKLE1

Linked Data

• dbSNP Id: rs570826000
• ExAC: 19:17394127 A / G
• gnomAD v2: 19-17394127-A-G
• gnomAD v4: 19-17283318-A-G
• MyVariant Identifiers: chr19:g.17394127A>G (hg19) ; chr19:g.17283318A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17283318A>G , CM000681.2:g.17283318A>G	GRCh38
NC_000019.9:g.17394127A>G , CM000681.1:g.17394127A>G	GRCh37
NC_000019.8:g.17255127A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000404085.7:c.554A>G MANE Select	ENSP00000384008.3:p.Glu185Gly
ENST00000404261.9:c.554A>G	ENSP00000384753.6:p.Glu185Gly
ENST00000594072.6:c.554A>G	ENSP00000468845.4:p.Glu185Gly
ENST00000651416.1:n.771A>G
ENST00000652132.1:c.521A>G	ENSP00000498416.1:p.Glu174Gly
ENST00000394458.7:c.716A>G	ENSP00000377971.4:p.Glu239Gly
ENST00000404085.5:c.*453A>G	ENSP00000384008.2:n.*453A>G
ENST00000404261.8:c.716A>G	ENSP00000384753.5:p.Glu239Gly
ENST00000594072.5:c.716A>G	ENSP00000468845.3:p.Glu239Gly
ENST00000596626.1:n.667A>G
ENST00000598347.2:c.556A>G
NM_001278443.1:c.683A>G	NP_001265372.1:p.Glu228Gly
NM_001278444.1:c.716A>G	NP_001265373.1:p.Glu239Gly
NM_001278445.1:c.620A>G	NP_001265374.1:p.Glu207Gly
NM_152363.5:c.716A>G	NP_689576.5:p.Glu239Gly
NR_103530.1:n.830A>G
NM_001278443.2:c.521A>G	NP_001265372.2:p.Glu174Gly
NM_001278444.2:c.554A>G	NP_001265373.2:p.Glu185Gly
NM_001278445.2:c.512A>G	NP_001265374.2:p.Glu171Gly
NM_152363.6:c.554A>G MANE Select	NP_689576.6:p.Glu185Gly
NR_103530.2:n.574A>G