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.Gln52His
ENST00000553599.5:c.[156G>C;158G=]

ENST00000553599.5:c.[156G>C;159T>A]

ENST00000553599.5:c.[156G>C;159T>C]

ENST00000553599.5:c.[156G>C;159T>G]

ENST00000553599.5:c.[156G>C;159T=]

ENST00000553599.5:c.[156G>C;162C>T]

ENST00000553599.5:c.[156G>C;164C=]

ENST00000553599.5:c.[156G>C;165C>A]

ENST00000553599.5:c.[156G>C;165C=]

ENST00000553599.5:c.[156G>C;165C>G]

ENST00000553599.5:c.[156G>C;165C>T]

ENST00000553599.5:c.[156G>C;166C>A]

ENST00000553599.5:c.[156G>C;166C=]

ENST00000553599.5:c.[156G>C;167G=]

ENST00000553599.5:c.[156G>C;168G>A]

ENST00000553599.5:c.[156G>C;168G>C]

ENST00000553599.5:c.[156G>C;168G>T]

ENST00000553599.5:c.[156G>C;171G>A]

ENST00000553599.5:c.[156G>C;172G=]

ENST00000553599.5:c.[156G>C;173T=]

ENST00000553599.5:c.[156G>C;174G>A]

ENST00000553599.5:c.[156G>C;174G>C]

ENST00000553599.5:c.[156G>C;174G=]

ENST00000553599.5:c.[156G>C;174G>T]

ENST00000553599.5:c.[156G>C;176T=]

ENST00000553599.5:c.[156G>C;177G>A]

ENST00000553599.5:c.[156G>C;177G>C]

ENST00000553599.5:c.[156G>C;177G=]

ENST00000553599.5:c.[156G>C;177G>T]

ENST00000553599.5:c.[156G>C;180G>A]

ENST00000553599.5:c.[156G>C;180G=]

ENST00000553599.5:c.[156G>C;182A=]

ENST00000553599.5:c.[156G>C;183A>G]

ENST00000553599.5:c.[156G>C;185A=]

ENST00000553599.5:c.[156G>C;186T>C]

ENST00000553599.5:c.[156G>C;188A=]

ENST00000553599.5:c.[156G>C;189G>A]

ENST00000553599.5:c.[156G>C;189_192delins...

ENST00000553599.5:c.[156G>C;191A=]

ENST00000553599.5:c.[156G>C;192A>G]

ENST00000553599.5:c.[156G>C;195A=]

ENST00000553599.5:c.[156G>C;195A>G]

ENST00000553599.5:c.[156G>C;198T>C]

ENST00000553599.5:c.[156G>C;198T=]

ENST00000553599.5:c.[156G>C;198_201delins...

ENST00000553599.5:c.[156G>C;201G>A]

ENST00000553599.5:c.[156G>C;201G=]

ENST00000553599.5:c.[156G>C;202G=]

ENST00000553599.5:c.[156G>C;204G>A]

ENST00000553599.5:c.[156G>C;204G=]

ENST00000553599.5:c.[156G>C;205C>T]

ENST00000553599.5:c.[156G>C;207G>A]

ENST00000553599.5:c.[156G>C;207G>C]

ENST00000553599.5:c.[156G>C;207G=]

ENST00000553599.5:c.[156G>C;207G>T]

ENST00000553599.5:c.[156G>C;208A=]

ENST00000553599.5:c.[156G>C;210A>C]

ENST00000553599.5:c.[156G>C;210A>G]

ENST00000553599.5:c.[156G>C;210A>T]

ENST00000553599.5:c.[156G>C;211T>C]

ENST00000553599.5:c.[156G>C;211T=]

ENST00000553599.5:c.[156G>C;213G>A]

ENST00000553599.5:c.[156G>C;213G=]

ENST00000553599.5:c.[156G>C;216A>G]

ENST00000553599.5:c.[156G>C;218A=]

ENST00000553599.5:c.[156G>C;219T>C]

ENST00000553599.5:c.[156G>C;219T=]

ENST00000553599.5:c.[156G>C;222C>A]

ENST00000553599.5:c.[156G>C;222C=]

ENST00000553599.5:c.[156G>C;222C>G]

ENST00000553599.5:c.[156G>C;222C>T]

ENST00000553599.5:c.[156G>C;223G=]

ENST00000553599.5:c.[156G>C;224C=]

ENST00000553599.5:c.[156G>C;225C>A]

ENST00000553599.5:c.[156G>C;225C>G]

ENST00000553599.5:c.[156G>C;225C>T]

ENST00000553599.5:c.[156G>C;227A=]

ENST00000553599.5:c.[156G>C;228G>A]

ENST00000553599.5:c.[156G>C;228G=]

ENST00000553599.5:c.[156G>C;231T>C]

ENST00000553599.5:c.[156G>C;231T=]

ENST00000553599.5:c.[156G>C;232G=]

ENST00000553599.5:c.[156G>C;232_238delins...

ENST00000553599.5:c.[156G>C;234G>A]

ENST00000553599.5:c.[156G>C;234G>C]

ENST00000553599.5:c.[156G>C;234G>T]

ENST00000553599.5:c.[156G>C;237C>A]

ENST00000553599.5:c.[156G>C;237C>T]

ENST00000553599.5:c.[156G>T;158G=]

ENST00000553599.5:c.[156G>T;159T>A]

ENST00000553599.5:c.[156G>T;159T>C]

ENST00000553599.5:c.[156G>T;159T>G]

ENST00000553599.5:c.[156G>T;159T=]

ENST00000553599.5:c.[156G>T;162C>T]

ENST00000553599.5:c.[156G>T;164C=]

ENST00000553599.5:c.[156G>T;165C>A]

ENST00000553599.5:c.[156G>T;165C=]

ENST00000553599.5:c.[156G>T;165C>G]

ENST00000553599.5:c.[156G>T;165C>T]

ENST00000553599.5:c.[156G>T;166C>A]

ENST00000553599.5:c.[156G>T;166C=]

ENST00000553599.5:c.[156G>T;167G=]

ENST00000553599.5:c.[156G>T;168G>A]

ENST00000553599.5:c.[156G>T;168G>C]

ENST00000553599.5:c.[156G>T;168G>T]

ENST00000553599.5:c.[156G>T;171G>A]

ENST00000553599.5:c.[156G>T;172G=]

ENST00000553599.5:c.[156G>T;173T=]

ENST00000553599.5:c.[156G>T;174G>A]

ENST00000553599.5:c.[156G>T;174G>C]

ENST00000553599.5:c.[156G>T;174G=]

ENST00000553599.5:c.[156G>T;174G>T]

ENST00000553599.5:c.[156G>T;176T=]

ENST00000553599.5:c.[156G>T;177G>A]

ENST00000553599.5:c.[156G>T;177G>C]

ENST00000553599.5:c.[156G>T;177G=]

ENST00000553599.5:c.[156G>T;177G>T]

ENST00000553599.5:c.[156G>T;180G>A]

ENST00000553599.5:c.[156G>T;180G=]

ENST00000553599.5:c.[156G>T;182A=]

ENST00000553599.5:c.[156G>T;183A>G]

ENST00000553599.5:c.[156G>T;185A=]

ENST00000553599.5:c.[156G>T;186T>C]

ENST00000553599.5:c.[156G>T;188A=]

ENST00000553599.5:c.[156G>T;189G>A]

ENST00000553599.5:c.[156G>T;189_192delins...

ENST00000553599.5:c.[156G>T;191A=]

ENST00000553599.5:c.[156G>T;192A>G]

ENST00000553599.5:c.[156G>T;195A=]

ENST00000553599.5:c.[156G>T;195A>G]

ENST00000553599.5:c.[156G>T;198T>C]

ENST00000553599.5:c.[156G>T;198T=]

ENST00000553599.5:c.[156G>T;198_201delins...

ENST00000553599.5:c.[156G>T;201G>A]

ENST00000553599.5:c.[156G>T;201G=]

ENST00000553599.5:c.[156G>T;202G=]

ENST00000553599.5:c.[156G>T;204G>A]

ENST00000553599.5:c.[156G>T;204G=]

ENST00000553599.5:c.[156G>T;205C>T]

ENST00000553599.5:c.[156G>T;207G>A]

ENST00000553599.5:c.[156G>T;207G>C]

ENST00000553599.5:c.[156G>T;207G=]

ENST00000553599.5:c.[156G>T;207G>T]

ENST00000553599.5:c.[156G>T;208A=]

ENST00000553599.5:c.[156G>T;210A>C]

ENST00000553599.5:c.[156G>T;210A>G]

ENST00000553599.5:c.[156G>T;210A>T]

ENST00000553599.5:c.[156G>T;211T>C]

ENST00000553599.5:c.[156G>T;211T=]

ENST00000553599.5:c.[156G>T;213G>A]

ENST00000553599.5:c.[156G>T;213G=]

ENST00000553599.5:c.[156G>T;216A>G]

ENST00000553599.5:c.[156G>T;218A=]

ENST00000553599.5:c.[156G>T;219T>C]

ENST00000553599.5:c.[156G>T;219T=]

ENST00000553599.5:c.[156G>T;222C>A]

ENST00000553599.5:c.[156G>T;222C=]

ENST00000553599.5:c.[156G>T;222C>G]

ENST00000553599.5:c.[156G>T;222C>T]

ENST00000553599.5:c.[156G>T;223G=]

ENST00000553599.5:c.[156G>T;224C=]

ENST00000553599.5:c.[156G>T;225C>A]

ENST00000553599.5:c.[156G>T;225C>G]

ENST00000553599.5:c.[156G>T;225C>T]

ENST00000553599.5:c.[156G>T;227A=]

ENST00000553599.5:c.[156G>T;228G>A]

ENST00000553599.5:c.[156G>T;228G=]

ENST00000553599.5:c.[156G>T;231T>C]

ENST00000553599.5:c.[156G>T;231T=]

ENST00000553599.5:c.[156G>T;232G=]

ENST00000553599.5:c.[156G>T;232_238delins...

ENST00000553599.5:c.[156G>T;234G>A]

ENST00000553599.5:c.[156G>T;234G>C]

ENST00000553599.5:c.[156G>T;234G>T]

ENST00000553599.5:c.[156G>T;237C>A]

ENST00000553599.5:c.[156G>T;237C>T]