Canonical Allele Identifier: CA506095509

Gene: ANKLE1

Linked Data

• dbSNP Id: rs1314822843
• gnomAD v2: 19-17394068-G-T
• MyVariant Identifiers: chr19:g.17394068G>T (hg19) ; chr19:g.17283259G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17283259G>T , CM000681.2:g.17283259G>T	GRCh38
NC_000019.9:g.17394068G>T , CM000681.1:g.17394068G>T	GRCh37
NC_000019.8:g.17255068G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000404085.7:c.495G>T MANE Select	ENSP00000384008.3:p.Leu165=
ENST00000404261.9:c.495G>T	ENSP00000384753.6:p.Leu165=
ENST00000594072.6:c.495G>T	ENSP00000468845.4:p.Leu165=
ENST00000651416.1:n.712G>T
ENST00000652132.1:c.462G>T	ENSP00000498416.1:p.Leu154=
ENST00000394458.7:c.657G>T	ENSP00000377971.4:p.Leu219=
ENST00000404085.5:c.*394G>T	ENSP00000384008.2:n.*394G>T
ENST00000404261.8:c.657G>T	ENSP00000384753.5:p.Leu219=
ENST00000594072.5:c.657G>T	ENSP00000468845.3:p.Leu219=
ENST00000596626.1:n.608G>T
ENST00000598347.2:c.497G>T
NM_001278443.1:c.624G>T	NP_001265372.1:p.Leu208=
NM_001278444.1:c.657G>T	NP_001265373.1:p.Leu219=
NM_001278445.1:c.561G>T	NP_001265374.1:p.Leu187=
NM_152363.5:c.657G>T	NP_689576.5:p.Leu219=
NR_103530.1:n.771G>T
NM_001278443.2:c.462G>T	NP_001265372.2:p.Leu154=
NM_001278444.2:c.495G>T	NP_001265373.2:p.Leu165=
NM_001278445.2:c.453G>T	NP_001265374.2:p.Leu151=
NM_152363.6:c.495G>T MANE Select	NP_689576.6:p.Leu165=
NR_103530.2:n.515G>T