Canonical Allele Identifier: CA404744866

Gene: ANKLE1

Linked Data

• COSMIC: COSM3796752 ; COSM3796753 ; COSM3796754
• MyVariant Identifiers: chr19:g.17394183G>T (hg19) ; chr19:g.17283374G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17283374G>T , CM000681.2:g.17283374G>T	GRCh38
NC_000019.9:g.17394183G>T , CM000681.1:g.17394183G>T	GRCh37
NC_000019.8:g.17255183G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000404085.7:c.610G>T MANE Select	ENSP00000384008.3:p.Gly204Trp
ENST00000404261.9:c.610G>T	ENSP00000384753.6:p.Gly204Trp
ENST00000594072.6:c.610G>T	ENSP00000468845.4:p.Gly204Trp
ENST00000651416.1:n.827G>T
ENST00000652132.1:c.577G>T	ENSP00000498416.1:p.Gly193Trp
ENST00000394458.7:c.772G>T	ENSP00000377971.4:p.Gly258Trp
ENST00000404085.5:c.*509G>T	ENSP00000384008.2:n.*509G>T
ENST00000404261.8:c.772G>T	ENSP00000384753.5:p.Gly258Trp
ENST00000594072.5:c.772G>T	ENSP00000468845.3:p.Gly258Trp
ENST00000596626.1:n.723G>T
ENST00000598347.2:c.612G>T
NM_001278443.1:c.739G>T	NP_001265372.1:p.Gly247Trp
NM_001278444.1:c.772G>T	NP_001265373.1:p.Gly258Trp
NM_001278445.1:c.676G>T	NP_001265374.1:p.Gly226Trp
NM_152363.5:c.772G>T	NP_689576.5:p.Gly258Trp
NR_103530.1:n.886G>T
NM_001278443.2:c.577G>T	NP_001265372.2:p.Gly193Trp
NM_001278444.2:c.610G>T	NP_001265373.2:p.Gly204Trp
NM_001278445.2:c.568G>T	NP_001265374.2:p.Gly190Trp
NM_152363.6:c.610G>T MANE Select	NP_689576.6:p.Gly204Trp
NR_103530.2:n.630G>T