Allele Registry

This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.

Canonical Allele Identifier: Get Identifier

Gene: PSEN1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid)

Transcript change

ENSP00000450652.1:p.Lys109Arg

ENST00000555254.5:c.[326A>G;330T>C]

ENST00000555254.5:c.[326A>G;333G>A]

ENST00000555254.5:c.[326A>G;333G>C]

ENST00000555254.5:c.[326A>G;333G>T]

ENST00000555254.5:c.[326A>G;336G>A]

ENST00000555254.5:c.[326A>G;337C=]

ENST00000555254.5:c.[326A>G;337C>T]

ENST00000555254.5:c.[326A>G;338T=]

ENST00000555254.5:c.[326A>G;339A=]

ENST00000555254.5:c.[326A>G;339A>C]

ENST00000555254.5:c.[326A>G;339A>G]

ENST00000555254.5:c.[326A>G;339A>T]

ENST00000555254.5:c.[326A>G;342C>A]

ENST00000555254.5:c.[326A>G;342C>T]

ENST00000555254.5:c.[326A>G;343T=]

ENST00000555254.5:c.[326A>G;344A=]

ENST00000555254.5:c.[326A>G;345T>C]

ENST00000555254.5:c.[326A>G;345T=]

ENST00000555254.5:c.[326A>G;347C=]

ENST00000555254.5:c.[326A>G;348C>A]

ENST00000555254.5:c.[326A>G;348C>G]

ENST00000555254.5:c.[326A>G;348C>T]

ENST00000555254.5:c.[326A>G;349C=]

ENST00000555254.5:c.[326A>G;350C=]

ENST00000555254.5:c.[326A>G;351A=]

ENST00000555254.5:c.[326A>G;351A>C]

ENST00000555254.5:c.[326A>G;351A>G]

ENST00000555254.5:c.[326A>G;351A>T]

ENST00000555254.5:c.[326A>G;354C=]

ENST00000555254.5:c.[326A>G;354C>T]

ENST00000555254.5:c.[326A>G;356C=]

ENST00000555254.5:c.[326A>G;357A=]

ENST00000555254.5:c.[326A>G;357A>C]

ENST00000555254.5:c.[326A>G;357A>G]

ENST00000555254.5:c.[326A>G;357A>T]

ENST00000555254.5:c.[326A>G;358G=]

ENST00000555254.5:c.[326A>G;359A=]

ENST00000555254.5:c.[326A>G;360A=]

ENST00000555254.5:c.[326A>G;360A>G]

ENST00000555254.5:c.[326A>G;363T>C]

ENST00000555254.5:c.[326A>G;364A=]

ENST00000555254.5:c.[326A>G;366C>A]

ENST00000555254.5:c.[326A>G;366C=]

ENST00000555254.5:c.[326A>G;366C>G]

ENST00000555254.5:c.[326A>G;366C>T]

ENST00000555254.5:c.[326A>G;367G=]

ENST00000555254.5:c.[326A>G;369G>A]

ENST00000555254.5:c.[326A>G;370A=]

ENST00000555254.5:c.[326A>G;372T>A]

ENST00000555254.5:c.[326A>G;372T>C]

ENST00000555254.5:c.[326A>G;372T>G]

ENST00000555254.5:c.[326A>G;375G>A]

ENST00000555254.5:c.[326A>G;375G>C]

ENST00000555254.5:c.[326A>G;375G=]

ENST00000555254.5:c.[326A>G;375G>T]

ENST00000555254.5:c.[326A>G;378C>A]

ENST00000555254.5:c.[326A>G;378C=]

ENST00000555254.5:c.[326A>G;378C>G]

ENST00000555254.5:c.[326A>G;378C>T]

ENST00000555254.5:c.[326A>G;381G>A]

ENST00000555254.5:c.[326A>G;382A>C]

ENST00000555254.5:c.[326A>G;384A>G]

ENST00000555254.5:c.[326A>G;385G=]

ENST00000555254.5:c.[326A>G;387C>A]

ENST00000555254.5:c.[326A>G;387C>G]

ENST00000555254.5:c.[326A>G;387C>T]

ENST00000555254.5:c.[326A>G;388C>T]

ENST00000555254.5:c.[326A>G;389T=]

ENST00000555254.5:c.[326A>G;390G>A]

ENST00000555254.5:c.[326A>G;390G>C]

ENST00000555254.5:c.[326A>G;390G>T]

ENST00000555254.5:c.[326A>G;392A=]

ENST00000555254.5:c.[326A>G;393C>T]

ENST00000555254.5:c.[326A>G;394T=]

ENST00000555254.5:c.[326A>G;395C=]

ENST00000555254.5:c.[326A>G;396A=]

ENST00000555254.5:c.[326A>G;396A>C]

ENST00000555254.5:c.[326A>G;396A>G]

ENST00000555254.5:c.[326A>G;396A>T]

ENST00000555254.5:c.[326A>G;397A=]

ENST00000555254.5:c.[326A>G;399T>A]

ENST00000555254.5:c.[326A>G;399T>C]

ENST00000555254.5:c.[326A>G;400C>T]

ENST00000555254.5:c.[326A>G;401T=]

ENST00000555254.5:c.[326A>G;402G>A]

ENST00000555254.5:c.[326A>G;402G>C]

ENST00000555254.5:c.[326A>G;402G>T]

ENST00000555254.5:c.[326A>G;403A=]

ENST00000555254.5:c.[326A>G;404A=]

ENST00000555254.5:c.[326A>G;405T>C]

ENST00000555254.5:c.[326A>G;405T=]

ENST00000555254.5:c.[326A>G;407C=]

ENST00000555254.5:c.[326A>G;408T>A]

ENST00000555254.5:c.[326A>G;408T>C]

ENST00000555254.5:c.[326A>G;408T>G]