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.Arg50Leu
ENST00000553599.5:c.[149G>T;151C=]

ENST00000553599.5:c.[149G>T;153C>A]

ENST00000553599.5:c.[149G>T;153C>G]

ENST00000553599.5:c.[149G>T;153C>T]

ENST00000553599.5:c.[149G>T;155A=]

ENST00000553599.5:c.[149G>T;156G>A]

ENST00000553599.5:c.[149G>T;156G=]

ENST00000553599.5:c.[149G>T;158G=]

ENST00000553599.5:c.[149G>T;159T>A]

ENST00000553599.5:c.[149G>T;159T>C]

ENST00000553599.5:c.[149G>T;159T>G]

ENST00000553599.5:c.[149G>T;159T=]

ENST00000553599.5:c.[149G>T;162C>T]

ENST00000553599.5:c.[149G>T;164C=]

ENST00000553599.5:c.[149G>T;165C>A]

ENST00000553599.5:c.[149G>T;165C=]

ENST00000553599.5:c.[149G>T;165C>G]

ENST00000553599.5:c.[149G>T;165C>T]

ENST00000553599.5:c.[149G>T;166C>A]

ENST00000553599.5:c.[149G>T;166C=]

ENST00000553599.5:c.[149G>T;167G=]

ENST00000553599.5:c.[149G>T;168G>A]

ENST00000553599.5:c.[149G>T;168G>C]

ENST00000553599.5:c.[149G>T;168G>T]

ENST00000553599.5:c.[149G>T;171G>A]

ENST00000553599.5:c.[149G>T;172G=]

ENST00000553599.5:c.[149G>T;173T=]

ENST00000553599.5:c.[149G>T;174G>A]

ENST00000553599.5:c.[149G>T;174G>C]

ENST00000553599.5:c.[149G>T;174G=]

ENST00000553599.5:c.[149G>T;174G>T]

ENST00000553599.5:c.[149G>T;176T=]

ENST00000553599.5:c.[149G>T;177G>A]

ENST00000553599.5:c.[149G>T;177G>C]

ENST00000553599.5:c.[149G>T;177G=]

ENST00000553599.5:c.[149G>T;177G>T]

ENST00000553599.5:c.[149G>T;180G>A]

ENST00000553599.5:c.[149G>T;180G=]

ENST00000553599.5:c.[149G>T;182A=]

ENST00000553599.5:c.[149G>T;183A>G]

ENST00000553599.5:c.[149G>T;185A=]

ENST00000553599.5:c.[149G>T;186T>C]

ENST00000553599.5:c.[149G>T;188A=]

ENST00000553599.5:c.[149G>T;189G>A]

ENST00000553599.5:c.[149G>T;189_192delins...

ENST00000553599.5:c.[149G>T;191A=]

ENST00000553599.5:c.[149G>T;192A>G]

ENST00000553599.5:c.[149G>T;195A=]

ENST00000553599.5:c.[149G>T;195A>G]

ENST00000553599.5:c.[149G>T;198T>C]

ENST00000553599.5:c.[149G>T;198T=]

ENST00000553599.5:c.[149G>T;198_201delins...

ENST00000553599.5:c.[149G>T;201G>A]

ENST00000553599.5:c.[149G>T;201G=]

ENST00000553599.5:c.[149G>T;202G=]

ENST00000553599.5:c.[149G>T;204G>A]

ENST00000553599.5:c.[149G>T;204G=]

ENST00000553599.5:c.[149G>T;205C>T]

ENST00000553599.5:c.[149G>T;207G>A]

ENST00000553599.5:c.[149G>T;207G>C]

ENST00000553599.5:c.[149G>T;207G=]

ENST00000553599.5:c.[149G>T;207G>T]

ENST00000553599.5:c.[149G>T;208A=]

ENST00000553599.5:c.[149G>T;210A>C]

ENST00000553599.5:c.[149G>T;210A>G]

ENST00000553599.5:c.[149G>T;210A>T]

ENST00000553599.5:c.[149G>T;211T>C]

ENST00000553599.5:c.[149G>T;211T=]

ENST00000553599.5:c.[149G>T;213G>A]

ENST00000553599.5:c.[149G>T;213G=]

ENST00000553599.5:c.[149G>T;216A>G]

ENST00000553599.5:c.[149G>T;218A=]

ENST00000553599.5:c.[149G>T;219T>C]

ENST00000553599.5:c.[149G>T;219T=]

ENST00000553599.5:c.[149G>T;222C>A]

ENST00000553599.5:c.[149G>T;222C=]

ENST00000553599.5:c.[149G>T;222C>G]

ENST00000553599.5:c.[149G>T;222C>T]

ENST00000553599.5:c.[149G>T;223G=]

ENST00000553599.5:c.[149G>T;224C=]

ENST00000553599.5:c.[149G>T;225C>A]

ENST00000553599.5:c.[149G>T;225C>G]

ENST00000553599.5:c.[149G>T;225C>T]

ENST00000553599.5:c.[149G>T;227A=]

ENST00000553599.5:c.[149G>T;228G>A]

ENST00000553599.5:c.[149G>T;228G=]

ENST00000553599.5:c.[149G>T;231T>C]

ENST00000553599.5:c.[149G>T;231T=]