Canonical Allele Identifier: CA506095655

Gene: ANKLE1

Linked Data

• MyVariant Identifiers: chr19:g.17394179A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17283370A>G , CM000681.2:g.17283370A>G	GRCh38
NC_000019.9:g.17394179A>G , CM000681.1:g.17394179A>G	GRCh37
NC_000019.8:g.17255179A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000404085.7:c.606A>G MANE Select	ENSP00000384008.3:p.Lys202=
ENST00000404261.9:c.606A>G	ENSP00000384753.6:p.Lys202=
ENST00000594072.6:c.606A>G	ENSP00000468845.4:p.Lys202=
ENST00000651416.1:n.823A>G
ENST00000652132.1:c.573A>G	ENSP00000498416.1:p.Lys191=
ENST00000394458.7:c.768A>G	ENSP00000377971.4:p.Lys256=
ENST00000404085.5:c.*505A>G	ENSP00000384008.2:n.*505A>G
ENST00000404261.8:c.768A>G	ENSP00000384753.5:p.Lys256=
ENST00000594072.5:c.768A>G	ENSP00000468845.3:p.Lys256=
ENST00000596626.1:n.719A>G
ENST00000598347.2:c.608A>G
NM_001278443.1:c.735A>G	NP_001265372.1:p.Lys245=
NM_001278444.1:c.768A>G	NP_001265373.1:p.Lys256=
NM_001278445.1:c.672A>G	NP_001265374.1:p.Lys224=
NM_152363.5:c.768A>G	NP_689576.5:p.Lys256=
NR_103530.1:n.882A>G
NM_001278443.2:c.573A>G	NP_001265372.2:p.Lys191=
NM_001278444.2:c.606A>G	NP_001265373.2:p.Lys202=
NM_001278445.2:c.564A>G	NP_001265374.2:p.Lys188=
NM_152363.6:c.606A>G MANE Select	NP_689576.6:p.Lys202=
NR_103530.2:n.626A>G