Canonical Allele Identifier: CA506095644

Gene: ANKLE1

Linked Data

• MyVariant Identifiers: chr19:g.17394173G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17283364G>T , CM000681.2:g.17283364G>T	GRCh38
NC_000019.9:g.17394173G>T , CM000681.1:g.17394173G>T	GRCh37
NC_000019.8:g.17255173G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000404085.7:c.600G>T MANE Select	ENSP00000384008.3:p.Val200=
ENST00000404261.9:c.600G>T	ENSP00000384753.6:p.Val200=
ENST00000594072.6:c.600G>T	ENSP00000468845.4:p.Val200=
ENST00000651416.1:n.817G>T
ENST00000652132.1:c.567G>T	ENSP00000498416.1:p.Val189=
ENST00000394458.7:c.762G>T	ENSP00000377971.4:p.Val254=
ENST00000404085.5:c.*499G>T	ENSP00000384008.2:n.*499G>T
ENST00000404261.8:c.762G>T	ENSP00000384753.5:p.Val254=
ENST00000594072.5:c.762G>T	ENSP00000468845.3:p.Val254=
ENST00000596626.1:n.713G>T
ENST00000598347.2:c.602G>T
NM_001278443.1:c.729G>T	NP_001265372.1:p.Val243=
NM_001278444.1:c.762G>T	NP_001265373.1:p.Val254=
NM_001278445.1:c.666G>T	NP_001265374.1:p.Val222=
NM_152363.5:c.762G>T	NP_689576.5:p.Val254=
NR_103530.1:n.876G>T
NM_001278443.2:c.567G>T	NP_001265372.2:p.Val189=
NM_001278444.2:c.600G>T	NP_001265373.2:p.Val200=
NM_001278445.2:c.558G>T	NP_001265374.2:p.Val186=
NM_152363.6:c.600G>T MANE Select	NP_689576.6:p.Val200=
NR_103530.2:n.620G>T