Canonical Allele Identifier: CA404744933

Gene: ANKLE1

Linked Data

• MyVariant Identifiers: chr19:g.17394215T>G (hg19) ; chr19:g.17283406T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17283406T>G , CM000681.2:g.17283406T>G	GRCh38
NC_000019.9:g.17394215T>G , CM000681.1:g.17394215T>G	GRCh37
NC_000019.8:g.17255215T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000404085.7:c.642T>G MANE Select	ENSP00000384008.3:p.Asp214Glu
ENST00000404261.9:c.642T>G	ENSP00000384753.6:p.Asp214Glu
ENST00000594072.6:c.642T>G	ENSP00000468845.4:p.Asp214Glu
ENST00000651416.1:n.859T>G
ENST00000652132.1:c.609T>G	ENSP00000498416.1:p.Asp203Glu
ENST00000394458.7:c.804T>G	ENSP00000377971.4:p.Asp268Glu
ENST00000404085.5:c.*541T>G	ENSP00000384008.2:n.*541T>G
ENST00000404261.8:c.804T>G	ENSP00000384753.5:p.Asp268Glu
ENST00000594072.5:c.804T>G	ENSP00000468845.3:p.Asp268Glu
ENST00000596626.1:n.755T>G
ENST00000598347.2:c.644T>G
NM_001278443.1:c.771T>G	NP_001265372.1:p.Asp257Glu
NM_001278444.1:c.804T>G	NP_001265373.1:p.Asp268Glu
NM_001278445.1:c.708T>G	NP_001265374.1:p.Asp236Glu
NM_152363.5:c.804T>G	NP_689576.5:p.Asp268Glu
NR_103530.1:n.918T>G
NM_001278443.2:c.609T>G	NP_001265372.2:p.Asp203Glu
NM_001278444.2:c.642T>G	NP_001265373.2:p.Asp214Glu
NM_001278445.2:c.600T>G	NP_001265374.2:p.Asp200Glu
NM_152363.6:c.642T>G MANE Select	NP_689576.6:p.Asp214Glu
NR_103530.2:n.662T>G