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.Ala79Pro
ENST00000555254.5:c.[235G>C;239A=]

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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