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
ENSP00000452477.1:p.Leu69Met
ENST00000553599.5:c.[205C>A;208A=]

ENST00000553599.5:c.[205C>A;210A>C]

ENST00000553599.5:c.[205C>A;210A>G]

ENST00000553599.5:c.[205C>A;210A>T]

ENST00000553599.5:c.[205C>A;211T>C]

ENST00000553599.5:c.[205C>A;211T=]

ENST00000553599.5:c.[205C>A;213G>A]

ENST00000553599.5:c.[205C>A;213G=]

ENST00000553599.5:c.[205C>A;216A>G]

ENST00000553599.5:c.[205C>A;218A=]

ENST00000553599.5:c.[205C>A;219T>C]

ENST00000553599.5:c.[205C>A;219T=]

ENST00000553599.5:c.[205C>A;222C>A]

ENST00000553599.5:c.[205C>A;222C=]

ENST00000553599.5:c.[205C>A;222C>G]

ENST00000553599.5:c.[205C>A;222C>T]

ENST00000553599.5:c.[205C>A;223G=]

ENST00000553599.5:c.[205C>A;224C=]

ENST00000553599.5:c.[205C>A;225C>A]

ENST00000553599.5:c.[205C>A;225C>G]

ENST00000553599.5:c.[205C>A;225C>T]

ENST00000553599.5:c.[205C>A;227A=]

ENST00000553599.5:c.[205C>A;228G>A]

ENST00000553599.5:c.[205C>A;228G=]

ENST00000553599.5:c.[205C>A;231T>C]

ENST00000553599.5:c.[205C>A;231T=]

ENST00000553599.5:c.[205C>A;232G=]

ENST00000553599.5:c.[205C>A;232_238delins...

ENST00000553599.5:c.[205C>A;234G>A]

ENST00000553599.5:c.[205C>A;234G>C]

ENST00000553599.5:c.[205C>A;234G>T]

ENST00000553599.5:c.[205C>A;237C>A]

ENST00000553599.5:c.[205C>A;237C>T]

ENST00000553599.5:c.[205C>A;238A=]

ENST00000553599.5:c.[205C>A;239T=]

ENST00000553599.5:c.[205C>A;241C>T;243C>A...

ENST00000553599.5:c.[205C>A;241C>T;243C>G...

ENST00000553599.5:c.[205C>A;242T=]

ENST00000553599.5:c.[205C>A;243C>A]

ENST00000553599.5:c.[205C>A;243C=]

ENST00000553599.5:c.[205C>A;243C>G]

ENST00000553599.5:c.[205C>A;243C>T]

ENST00000553599.5:c.[205C>A;245T=]

ENST00000553599.5:c.[205C>A;246T>C]

ENST00000553599.5:c.[205C>A;247G=]

ENST00000553599.5:c.[205C>A;249C>A]

ENST00000553599.5:c.[205C>A;249C=]

ENST00000553599.5:c.[205C>A;249C>G]

ENST00000553599.5:c.[205C>A;249C>T]

ENST00000553599.5:c.[205C>A;250C=]

ENST00000553599.5:c.[205C>A;251C=]

ENST00000553599.5:c.[205C>A;252T>A]

ENST00000553599.5:c.[205C>A;252T>C]

ENST00000553599.5:c.[205C>A;252T>G]

ENST00000553599.5:c.[205C>A;252T=]

ENST00000553599.5:c.[205C>A;253G=]

ENST00000553599.5:c.[205C>A;255G>A]

ENST00000553599.5:c.[205C>A;255G>C]

ENST00000553599.5:c.[205C>A;255G>T]

ENST00000553599.5:c.[205C>A;257C=]

ENST00000553599.5:c.[205C>A;258T>A]

ENST00000553599.5:c.[205C>A;258T>C]

ENST00000553599.5:c.[205C>A;258T>G]

ENST00000553599.5:c.[205C>A;259C=]

ENST00000553599.5:c.[205C>A;259C>T;261C>A...

ENST00000553599.5:c.[205C>A;259C>T;261C>G...

ENST00000553599.5:c.[205C>A;261C>A]

ENST00000553599.5:c.[205C>A;261C>G]

ENST00000553599.5:c.[205C>A;261C>T]

ENST00000553599.5:c.[205C>A;263G=]

ENST00000553599.5:c.[205C>A;264C>T]

ENST00000553599.5:c.[205C>A;265A=]

ENST00000553599.5:c.[205C>A;267G=]

ENST00000553599.5:c.[205C>A;268G=]

ENST00000553599.5:c.[205C>A;270G>A]

ENST00000553599.5:c.[205C>A;270G>C]

ENST00000553599.5:c.[205C>A;270G>T]