Canonical Allele Identifier: CA506095561

Gene: ANKLE1

Linked Data

• MyVariant Identifiers: chr19:g.17394110C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17283301C>T , CM000681.2:g.17283301C>T	GRCh38
NC_000019.9:g.17394110C>T , CM000681.1:g.17394110C>T	GRCh37
NC_000019.8:g.17255110C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000404085.7:c.537C>T MANE Select	ENSP00000384008.3:p.Asn179=
ENST00000404261.9:c.537C>T	ENSP00000384753.6:p.Asn179=
ENST00000594072.6:c.537C>T	ENSP00000468845.4:p.Asn179=
ENST00000651416.1:n.754C>T
ENST00000652132.1:c.504C>T	ENSP00000498416.1:p.Asn168=
ENST00000394458.7:c.699C>T	ENSP00000377971.4:p.Asn233=
ENST00000404085.5:c.*436C>T	ENSP00000384008.2:n.*436C>T
ENST00000404261.8:c.699C>T	ENSP00000384753.5:p.Asn233=
ENST00000594072.5:c.699C>T	ENSP00000468845.3:p.Asn233=
ENST00000596626.1:n.650C>T
ENST00000598347.2:c.539C>T
NM_001278443.1:c.666C>T	NP_001265372.1:p.Asn222=
NM_001278444.1:c.699C>T	NP_001265373.1:p.Asn233=
NM_001278445.1:c.603C>T	NP_001265374.1:p.Asn201=
NM_152363.5:c.699C>T	NP_689576.5:p.Asn233=
NR_103530.1:n.813C>T
NM_001278443.2:c.504C>T	NP_001265372.2:p.Asn168=
NM_001278444.2:c.537C>T	NP_001265373.2:p.Asn179=
NM_001278445.2:c.495C>T	NP_001265374.2:p.Asn165=
NM_152363.6:c.537C>T MANE Select	NP_689576.6:p.Asn179=
NR_103530.2:n.557C>T