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.Ala79Thr
ENST00000555254.5:c.[235G>A;239A=]

ENST00000555254.5:c.[235G>A;240G>A]

ENST00000555254.5:c.[235G>A;240G=]

ENST00000555254.5:c.[235G>A;243T>C]

ENST00000555254.5:c.[235G>A;243T=]

ENST00000555254.5:c.[235G>A;244G=]

ENST00000555254.5:c.[235G>A;244_250delins...

ENST00000555254.5:c.[235G>A;246G>A]

ENST00000555254.5:c.[235G>A;246G>C]

ENST00000555254.5:c.[235G>A;246G>T]

ENST00000555254.5:c.[235G>A;249C>A]

ENST00000555254.5:c.[235G>A;249C>T]

ENST00000555254.5:c.[235G>A;250A=]

ENST00000555254.5:c.[235G>A;251T=]

ENST00000555254.5:c.[235G>A;253C>T;255C>A...

ENST00000555254.5:c.[235G>A;253C>T;255C>G...

ENST00000555254.5:c.[235G>A;254T=]

ENST00000555254.5:c.[235G>A;255C>A]

ENST00000555254.5:c.[235G>A;255C=]

ENST00000555254.5:c.[235G>A;255C>G]

ENST00000555254.5:c.[235G>A;255C>T]

ENST00000555254.5:c.[235G>A;257T=]

ENST00000555254.5:c.[235G>A;258T>C]

ENST00000555254.5:c.[235G>A;259G=]

ENST00000555254.5:c.[235G>A;261C>A]

ENST00000555254.5:c.[235G>A;261C=]

ENST00000555254.5:c.[235G>A;261C>G]

ENST00000555254.5:c.[235G>A;261C>T]

ENST00000555254.5:c.[235G>A;262C=]

ENST00000555254.5:c.[235G>A;263C=]

ENST00000555254.5:c.[235G>A;264T>A]

ENST00000555254.5:c.[235G>A;264T>C]

ENST00000555254.5:c.[235G>A;264T>G]

ENST00000555254.5:c.[235G>A;264T=]

ENST00000555254.5:c.[235G>A;265G=]

ENST00000555254.5:c.[235G>A;267G>A]

ENST00000555254.5:c.[235G>A;267G>C]

ENST00000555254.5:c.[235G>A;267G>T]

ENST00000555254.5:c.[235G>A;269C=]

ENST00000555254.5:c.[235G>A;270T>A]

ENST00000555254.5:c.[235G>A;270T>C]

ENST00000555254.5:c.[235G>A;270T>G]

ENST00000555254.5:c.[235G>A;271C=]

ENST00000555254.5:c.[235G>A;271C>T;273C>A...

ENST00000555254.5:c.[235G>A;271C>T;273C>G...

ENST00000555254.5:c.[235G>A;273C>A]

ENST00000555254.5:c.[235G>A;273C>G]

ENST00000555254.5:c.[235G>A;273C>T]

ENST00000555254.5:c.[235G>A;275G=]

ENST00000555254.5:c.[235G>A;276C>T]

ENST00000555254.5:c.[235G>A;277A=]

ENST00000555254.5:c.[235G>A;279G=]

ENST00000555254.5:c.[235G>A;280G=]

ENST00000555254.5:c.[235G>A;282G>A]

ENST00000555254.5:c.[235G>A;282G>C]

ENST00000555254.5:c.[235G>A;282G>T]

ENST00000555254.5:c.[235G>A;283G=]

ENST00000555254.5:c.[235G>A;285G>A]

ENST00000555254.5:c.[235G>A;285G>C]

ENST00000555254.5:c.[235G>A;285G>T]

ENST00000555254.5:c.[235G>A;286G=]

ENST00000555254.5:c.[235G>A;288C>A]

ENST00000555254.5:c.[235G>A;288C=]

ENST00000555254.5:c.[235G>A;288C>G]

ENST00000555254.5:c.[235G>A;288C>T]

ENST00000555254.5:c.[235G>A;289G=]

ENST00000555254.5:c.[235G>A;290T=]

ENST00000555254.5:c.[235G>A;291G>A]

ENST00000555254.5:c.[235G>A;291G>C]

ENST00000555254.5:c.[235G>A;291G>T]

ENST00000555254.5:c.[235G>A;294T>A]

ENST00000555254.5:c.[235G>A;294T>C]

ENST00000555254.5:c.[235G>A;294T>G]

ENST00000555254.5:c.[235G>A;297C>A]

ENST00000555254.5:c.[235G>A;297C>G]

ENST00000555254.5:c.[235G>A;297C>T]

ENST00000555254.5:c.[235G>A;298A=]

ENST00000555254.5:c.[235G>A;299T=]

ENST00000555254.5:c.[235G>A;300T>A]

ENST00000555254.5:c.[235G>A;300T>C]

ENST00000555254.5:c.[235G>A;301A=]

ENST00000555254.5:c.[235G>A;303G>A]

ENST00000555254.5:c.[235G>A;306A=]

ENST00000555254.5:c.[235G>A;306A>C]

ENST00000555254.5:c.[235G>A;306A>G]

ENST00000555254.5:c.[235G>A;306A>T]

ENST00000555254.5:c.[235G>A;308T=]

ENST00000555254.5:c.[235G>A;309C>A]

ENST00000555254.5:c.[235G>A;309C=]

ENST00000555254.5:c.[235G>A;309C>G]

ENST00000555254.5:c.[235G>A;309C>T]

ENST00000555254.5:c.[235G>A;310A=]

ENST00000555254.5:c.[235G>A;312C>T]

ENST00000555254.5:c.[235G>A;313T=]

ENST00000555254.5:c.[235G>A;314T=]

ENST00000555254.5:c.[235G>A;315T>C]

ENST00000555254.5:c.[235G>A;315T=]

ENST00000555254.5:c.[235G>A;318T>C]

ENST00000555254.5:c.[235G>A;318T=]