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.Leu71Phe
ENST00000553599.5:c.[213G>C;216A>G]

ENST00000553599.5:c.[213G>C;218A=]

ENST00000553599.5:c.[213G>C;219T>C]

ENST00000553599.5:c.[213G>C;219T=]

ENST00000553599.5:c.[213G>C;222C>A]

ENST00000553599.5:c.[213G>C;222C=]

ENST00000553599.5:c.[213G>C;222C>G]

ENST00000553599.5:c.[213G>C;222C>T]

ENST00000553599.5:c.[213G>C;223G=]

ENST00000553599.5:c.[213G>C;224C=]

ENST00000553599.5:c.[213G>C;225C>A]

ENST00000553599.5:c.[213G>C;225C>G]

ENST00000553599.5:c.[213G>C;225C>T]

ENST00000553599.5:c.[213G>C;227A=]

ENST00000553599.5:c.[213G>C;228G>A]

ENST00000553599.5:c.[213G>C;228G=]

ENST00000553599.5:c.[213G>C;231T>C]

ENST00000553599.5:c.[213G>C;231T=]

ENST00000553599.5:c.[213G>C;232G=]

ENST00000553599.5:c.[213G>C;232_238delins...

ENST00000553599.5:c.[213G>C;234G>A]

ENST00000553599.5:c.[213G>C;234G>C]

ENST00000553599.5:c.[213G>C;234G>T]

ENST00000553599.5:c.[213G>C;237C>A]

ENST00000553599.5:c.[213G>C;237C>T]

ENST00000553599.5:c.[213G>C;238A=]

ENST00000553599.5:c.[213G>C;239T=]

ENST00000553599.5:c.[213G>C;241C>T;243C>A...

ENST00000553599.5:c.[213G>C;241C>T;243C>G...

ENST00000553599.5:c.[213G>C;242T=]

ENST00000553599.5:c.[213G>C;243C>A]

ENST00000553599.5:c.[213G>C;243C=]

ENST00000553599.5:c.[213G>C;243C>G]

ENST00000553599.5:c.[213G>C;243C>T]

ENST00000553599.5:c.[213G>C;245T=]

ENST00000553599.5:c.[213G>C;246T>C]

ENST00000553599.5:c.[213G>C;247G=]

ENST00000553599.5:c.[213G>C;249C>A]

ENST00000553599.5:c.[213G>C;249C=]

ENST00000553599.5:c.[213G>C;249C>G]

ENST00000553599.5:c.[213G>C;249C>T]

ENST00000553599.5:c.[213G>C;250C=]

ENST00000553599.5:c.[213G>C;251C=]

ENST00000553599.5:c.[213G>C;252T>A]

ENST00000553599.5:c.[213G>C;252T>C]

ENST00000553599.5:c.[213G>C;252T>G]

ENST00000553599.5:c.[213G>C;252T=]

ENST00000553599.5:c.[213G>C;253G=]

ENST00000553599.5:c.[213G>C;255G>A]

ENST00000553599.5:c.[213G>C;255G>C]

ENST00000553599.5:c.[213G>C;255G>T]

ENST00000553599.5:c.[213G>C;257C=]

ENST00000553599.5:c.[213G>C;258T>A]

ENST00000553599.5:c.[213G>C;258T>C]

ENST00000553599.5:c.[213G>C;258T>G]

ENST00000553599.5:c.[213G>C;259C=]

ENST00000553599.5:c.[213G>C;259C>T;261C>A...

ENST00000553599.5:c.[213G>C;259C>T;261C>G...

ENST00000553599.5:c.[213G>C;261C>A]

ENST00000553599.5:c.[213G>C;261C>G]

ENST00000553599.5:c.[213G>C;261C>T]

ENST00000553599.5:c.[213G>C;263G=]

ENST00000553599.5:c.[213G>C;264C>T]

ENST00000553599.5:c.[213G>C;265A=]

ENST00000553599.5:c.[213G>C;267G=]

ENST00000553599.5:c.[213G>C;268G=]

ENST00000553599.5:c.[213G>C;270G>A]

ENST00000553599.5:c.[213G>C;270G>C]

ENST00000553599.5:c.[213G>C;270G>T]

ENST00000553599.5:c.[213G>T;216A>G]

ENST00000553599.5:c.[213G>T;218A=]

ENST00000553599.5:c.[213G>T;219T>C]

ENST00000553599.5:c.[213G>T;219T=]

ENST00000553599.5:c.[213G>T;222C>A]

ENST00000553599.5:c.[213G>T;222C=]

ENST00000553599.5:c.[213G>T;222C>G]

ENST00000553599.5:c.[213G>T;222C>T]

ENST00000553599.5:c.[213G>T;223G=]

ENST00000553599.5:c.[213G>T;224C=]

ENST00000553599.5:c.[213G>T;225C>A]

ENST00000553599.5:c.[213G>T;225C>G]

ENST00000553599.5:c.[213G>T;225C>T]

ENST00000553599.5:c.[213G>T;227A=]

ENST00000553599.5:c.[213G>T;228G>A]

ENST00000553599.5:c.[213G>T;228G=]

ENST00000553599.5:c.[213G>T;231T>C]

ENST00000553599.5:c.[213G>T;231T=]

ENST00000553599.5:c.[213G>T;232G=]

ENST00000553599.5:c.[213G>T;232_238delins...

ENST00000553599.5:c.[213G>T;234G>A]

ENST00000553599.5:c.[213G>T;234G>C]

ENST00000553599.5:c.[213G>T;234G>T]

ENST00000553599.5:c.[213G>T;237C>A]

ENST00000553599.5:c.[213G>T;237C>T]

ENST00000553599.5:c.[213G>T;238A=]

ENST00000553599.5:c.[213G>T;239T=]

ENST00000553599.5:c.[213G>T;241C>T;243C>A...

ENST00000553599.5:c.[213G>T;241C>T;243C>G...

ENST00000553599.5:c.[213G>T;242T=]

ENST00000553599.5:c.[213G>T;243C>A]

ENST00000553599.5:c.[213G>T;243C=]

ENST00000553599.5:c.[213G>T;243C>G]

ENST00000553599.5:c.[213G>T;243C>T]

ENST00000553599.5:c.[213G>T;245T=]

ENST00000553599.5:c.[213G>T;246T>C]

ENST00000553599.5:c.[213G>T;247G=]

ENST00000553599.5:c.[213G>T;249C>A]

ENST00000553599.5:c.[213G>T;249C=]

ENST00000553599.5:c.[213G>T;249C>G]

ENST00000553599.5:c.[213G>T;249C>T]

ENST00000553599.5:c.[213G>T;250C=]

ENST00000553599.5:c.[213G>T;251C=]

ENST00000553599.5:c.[213G>T;252T>A]

ENST00000553599.5:c.[213G>T;252T>C]

ENST00000553599.5:c.[213G>T;252T>G]

ENST00000553599.5:c.[213G>T;252T=]

ENST00000553599.5:c.[213G>T;253G=]

ENST00000553599.5:c.[213G>T;255G>A]

ENST00000553599.5:c.[213G>T;255G>C]

ENST00000553599.5:c.[213G>T;255G>T]

ENST00000553599.5:c.[213G>T;257C=]

ENST00000553599.5:c.[213G>T;258T>A]

ENST00000553599.5:c.[213G>T;258T>C]

ENST00000553599.5:c.[213G>T;258T>G]

ENST00000553599.5:c.[213G>T;259C=]

ENST00000553599.5:c.[213G>T;259C>T;261C>A...

ENST00000553599.5:c.[213G>T;259C>T;261C>G...

ENST00000553599.5:c.[213G>T;261C>A]

ENST00000553599.5:c.[213G>T;261C>G]

ENST00000553599.5:c.[213G>T;261C>T]

ENST00000553599.5:c.[213G>T;263G=]

ENST00000553599.5:c.[213G>T;264C>T]

ENST00000553599.5:c.[213G>T;265A=]

ENST00000553599.5:c.[213G>T;267G=]

ENST00000553599.5:c.[213G>T;268G=]

ENST00000553599.5:c.[213G>T;270G>A]

ENST00000553599.5:c.[213G>T;270G>C]

ENST00000553599.5:c.[213G>T;270G>T]