Canonical Allele Identifier: CA506095630

Gene: ANKLE1

Linked Data

• MyVariant Identifiers: chr19:g.17394164T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17283355T>G , CM000681.2:g.17283355T>G	GRCh38
NC_000019.9:g.17394164T>G , CM000681.1:g.17394164T>G	GRCh37
NC_000019.8:g.17255164T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000404085.7:c.591T>G MANE Select	ENSP00000384008.3:p.Leu197=
ENST00000404261.9:c.591T>G	ENSP00000384753.6:p.Leu197=
ENST00000594072.6:c.591T>G	ENSP00000468845.4:p.Leu197=
ENST00000651416.1:n.808T>G
ENST00000652132.1:c.558T>G	ENSP00000498416.1:p.Leu186=
ENST00000394458.7:c.753T>G	ENSP00000377971.4:p.Leu251=
ENST00000404085.5:c.*490T>G	ENSP00000384008.2:n.*490T>G
ENST00000404261.8:c.753T>G	ENSP00000384753.5:p.Leu251=
ENST00000594072.5:c.753T>G	ENSP00000468845.3:p.Leu251=
ENST00000596626.1:n.704T>G
ENST00000598347.2:c.593T>G
NM_001278443.1:c.720T>G	NP_001265372.1:p.Leu240=
NM_001278444.1:c.753T>G	NP_001265373.1:p.Leu251=
NM_001278445.1:c.657T>G	NP_001265374.1:p.Leu219=
NM_152363.5:c.753T>G	NP_689576.5:p.Leu251=
NR_103530.1:n.867T>G
NM_001278443.2:c.558T>G	NP_001265372.2:p.Leu186=
NM_001278444.2:c.591T>G	NP_001265373.2:p.Leu197=
NM_001278445.2:c.549T>G	NP_001265374.2:p.Leu183=
NM_152363.6:c.591T>G MANE Select	NP_689576.6:p.Leu197=
NR_103530.2:n.611T>G