Canonical Allele Identifier: CA404744953

Gene: ANKLE1

Linked Data

• MyVariant Identifiers: chr19:g.17394223C>A (hg19) ; chr19:g.17283414C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17283414C>A , CM000681.2:g.17283414C>A	GRCh38
NC_000019.9:g.17394223C>A , CM000681.1:g.17394223C>A	GRCh37
NC_000019.8:g.17255223C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000404085.7:c.650C>A MANE Select	ENSP00000384008.3:p.Ser217Ter
ENST00000404261.9:c.650C>A	ENSP00000384753.6:p.Ser217Ter
ENST00000594072.6:c.650C>A	ENSP00000468845.4:p.Ser217Ter
ENST00000651416.1:n.867C>A
ENST00000652132.1:c.617C>A	ENSP00000498416.1:p.Ser206Ter
ENST00000394458.7:c.812C>A	ENSP00000377971.4:p.Ser271Ter
ENST00000404085.5:c.*549C>A	ENSP00000384008.2:n.*549C>A
ENST00000404261.8:c.812C>A	ENSP00000384753.5:p.Ser271Ter
ENST00000594072.5:c.812C>A	ENSP00000468845.3:p.Ser271Ter
ENST00000596626.1:n.763C>A
ENST00000598347.2:c.652C>A
NM_001278443.1:c.779C>A	NP_001265372.1:p.Ser260Ter
NM_001278444.1:c.812C>A	NP_001265373.1:p.Ser271Ter
NM_001278445.1:c.716C>A	NP_001265374.1:p.Ser239Ter
NM_152363.5:c.812C>A	NP_689576.5:p.Ser271Ter
NR_103530.1:n.926C>A
NM_001278443.2:c.617C>A	NP_001265372.2:p.Ser206Ter
NM_001278444.2:c.650C>A	NP_001265373.2:p.Ser217Ter
NM_001278445.2:c.608C>A	NP_001265374.2:p.Ser203Ter
NM_152363.6:c.650C>A MANE Select	NP_689576.6:p.Ser217Ter
NR_103530.2:n.670C>A