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.Asn48Lys
ENST00000553599.5:c.[144T>A;147A>C]

ENST00000553599.5:c.[144T>A;147A>G]

ENST00000553599.5:c.[144T>A;147A>T]

ENST00000553599.5:c.[144T>A;148C>A]

ENST00000553599.5:c.[144T>A;148C=]

ENST00000553599.5:c.[144T>A;149G=]

ENST00000553599.5:c.[144T>A;150A>C]

ENST00000553599.5:c.[144T>A;150A>G]

ENST00000553599.5:c.[144T>A;150A>T]

ENST00000553599.5:c.[144T>A;151C=]

ENST00000553599.5:c.[144T>A;153C>A]

ENST00000553599.5:c.[144T>A;153C>G]

ENST00000553599.5:c.[144T>A;153C>T]

ENST00000553599.5:c.[144T>A;155A=]

ENST00000553599.5:c.[144T>A;156G>A]

ENST00000553599.5:c.[144T>A;156G=]

ENST00000553599.5:c.[144T>A;158G=]

ENST00000553599.5:c.[144T>A;159T>A]

ENST00000553599.5:c.[144T>A;159T>C]

ENST00000553599.5:c.[144T>A;159T>G]

ENST00000553599.5:c.[144T>A;159T=]

ENST00000553599.5:c.[144T>A;162C>T]

ENST00000553599.5:c.[144T>A;164C=]

ENST00000553599.5:c.[144T>A;165C>A]

ENST00000553599.5:c.[144T>A;165C=]

ENST00000553599.5:c.[144T>A;165C>G]

ENST00000553599.5:c.[144T>A;165C>T]

ENST00000553599.5:c.[144T>A;166C>A]

ENST00000553599.5:c.[144T>A;166C=]

ENST00000553599.5:c.[144T>A;167G=]

ENST00000553599.5:c.[144T>A;168G>A]

ENST00000553599.5:c.[144T>A;168G>C]

ENST00000553599.5:c.[144T>A;168G>T]

ENST00000553599.5:c.[144T>A;171G>A]

ENST00000553599.5:c.[144T>A;172G=]

ENST00000553599.5:c.[144T>A;173T=]

ENST00000553599.5:c.[144T>A;174G>A]

ENST00000553599.5:c.[144T>A;174G>C]

ENST00000553599.5:c.[144T>A;174G=]

ENST00000553599.5:c.[144T>A;174G>T]

ENST00000553599.5:c.[144T>A;176T=]

ENST00000553599.5:c.[144T>A;177G>A]

ENST00000553599.5:c.[144T>A;177G>C]

ENST00000553599.5:c.[144T>A;177G=]

ENST00000553599.5:c.[144T>A;177G>T]

ENST00000553599.5:c.[144T>A;180G>A]

ENST00000553599.5:c.[144T>A;180G=]

ENST00000553599.5:c.[144T>A;182A=]

ENST00000553599.5:c.[144T>A;183A>G]

ENST00000553599.5:c.[144T>A;185A=]

ENST00000553599.5:c.[144T>A;186T>C]

ENST00000553599.5:c.[144T>A;188A=]

ENST00000553599.5:c.[144T>A;189G>A]

ENST00000553599.5:c.[144T>A;189_192delins...

ENST00000553599.5:c.[144T>A;191A=]

ENST00000553599.5:c.[144T>A;192A>G]

ENST00000553599.5:c.[144T>A;195A=]

ENST00000553599.5:c.[144T>A;195A>G]

ENST00000553599.5:c.[144T>A;198T>C]

ENST00000553599.5:c.[144T>A;198T=]

ENST00000553599.5:c.[144T>A;198_201delins...

ENST00000553599.5:c.[144T>A;201G>A]

ENST00000553599.5:c.[144T>A;201G=]

ENST00000553599.5:c.[144T>A;202G=]

ENST00000553599.5:c.[144T>A;204G>A]

ENST00000553599.5:c.[144T>A;204G=]

ENST00000553599.5:c.[144T>A;205C>T]

ENST00000553599.5:c.[144T>A;207G>A]

ENST00000553599.5:c.[144T>A;207G>C]

ENST00000553599.5:c.[144T>A;207G=]

ENST00000553599.5:c.[144T>A;207G>T]

ENST00000553599.5:c.[144T>A;208A=]

ENST00000553599.5:c.[144T>A;210A>C]

ENST00000553599.5:c.[144T>A;210A>G]

ENST00000553599.5:c.[144T>A;210A>T]

ENST00000553599.5:c.[144T>A;211T>C]

ENST00000553599.5:c.[144T>A;211T=]

ENST00000553599.5:c.[144T>A;213G>A]

ENST00000553599.5:c.[144T>A;213G=]

ENST00000553599.5:c.[144T>A;216A>G]

ENST00000553599.5:c.[144T>A;218A=]

ENST00000553599.5:c.[144T>A;219T>C]

ENST00000553599.5:c.[144T>A;219T=]

ENST00000553599.5:c.[144T>A;222C>A]

ENST00000553599.5:c.[144T>A;222C=]

ENST00000553599.5:c.[144T>A;222C>G]

ENST00000553599.5:c.[144T>A;222C>T]

ENST00000553599.5:c.[144T>A;223G=]

ENST00000553599.5:c.[144T>A;224C=]

ENST00000553599.5:c.[144T>A;225C>A]

ENST00000553599.5:c.[144T>A;225C>G]

ENST00000553599.5:c.[144T>A;225C>T]

ENST00000553599.5:c.[144T>G;147A>C]

ENST00000553599.5:c.[144T>G;147A>G]

ENST00000553599.5:c.[144T>G;147A>T]

ENST00000553599.5:c.[144T>G;148C>A]

ENST00000553599.5:c.[144T>G;148C=]

ENST00000553599.5:c.[144T>G;149G=]

ENST00000553599.5:c.[144T>G;150A>C]

ENST00000553599.5:c.[144T>G;150A>G]

ENST00000553599.5:c.[144T>G;150A>T]

ENST00000553599.5:c.[144T>G;151C=]

ENST00000553599.5:c.[144T>G;153C>A]

ENST00000553599.5:c.[144T>G;153C>G]

ENST00000553599.5:c.[144T>G;153C>T]

ENST00000553599.5:c.[144T>G;155A=]

ENST00000553599.5:c.[144T>G;156G>A]

ENST00000553599.5:c.[144T>G;156G=]

ENST00000553599.5:c.[144T>G;158G=]

ENST00000553599.5:c.[144T>G;159T>A]

ENST00000553599.5:c.[144T>G;159T>C]

ENST00000553599.5:c.[144T>G;159T>G]

ENST00000553599.5:c.[144T>G;159T=]

ENST00000553599.5:c.[144T>G;162C>T]

ENST00000553599.5:c.[144T>G;164C=]

ENST00000553599.5:c.[144T>G;165C>A]

ENST00000553599.5:c.[144T>G;165C=]

ENST00000553599.5:c.[144T>G;165C>G]

ENST00000553599.5:c.[144T>G;165C>T]

ENST00000553599.5:c.[144T>G;166C>A]

ENST00000553599.5:c.[144T>G;166C=]

ENST00000553599.5:c.[144T>G;167G=]

ENST00000553599.5:c.[144T>G;168G>A]

ENST00000553599.5:c.[144T>G;168G>C]

ENST00000553599.5:c.[144T>G;168G>T]

ENST00000553599.5:c.[144T>G;171G>A]

ENST00000553599.5:c.[144T>G;172G=]

ENST00000553599.5:c.[144T>G;173T=]

ENST00000553599.5:c.[144T>G;174G>A]

ENST00000553599.5:c.[144T>G;174G>C]

ENST00000553599.5:c.[144T>G;174G=]

ENST00000553599.5:c.[144T>G;174G>T]

ENST00000553599.5:c.[144T>G;176T=]

ENST00000553599.5:c.[144T>G;177G>A]

ENST00000553599.5:c.[144T>G;177G>C]

ENST00000553599.5:c.[144T>G;177G=]

ENST00000553599.5:c.[144T>G;177G>T]

ENST00000553599.5:c.[144T>G;180G>A]

ENST00000553599.5:c.[144T>G;180G=]

ENST00000553599.5:c.[144T>G;182A=]

ENST00000553599.5:c.[144T>G;183A>G]

ENST00000553599.5:c.[144T>G;185A=]

ENST00000553599.5:c.[144T>G;186T>C]

ENST00000553599.5:c.[144T>G;188A=]

ENST00000553599.5:c.[144T>G;189G>A]

ENST00000553599.5:c.[144T>G;189_192delins...

ENST00000553599.5:c.[144T>G;191A=]

ENST00000553599.5:c.[144T>G;192A>G]

ENST00000553599.5:c.[144T>G;195A=]

ENST00000553599.5:c.[144T>G;195A>G]

ENST00000553599.5:c.[144T>G;198T>C]

ENST00000553599.5:c.[144T>G;198T=]

ENST00000553599.5:c.[144T>G;198_201delins...

ENST00000553599.5:c.[144T>G;201G>A]

ENST00000553599.5:c.[144T>G;201G=]

ENST00000553599.5:c.[144T>G;202G=]

ENST00000553599.5:c.[144T>G;204G>A]

ENST00000553599.5:c.[144T>G;204G=]

ENST00000553599.5:c.[144T>G;205C>T]

ENST00000553599.5:c.[144T>G;207G>A]

ENST00000553599.5:c.[144T>G;207G>C]

ENST00000553599.5:c.[144T>G;207G=]

ENST00000553599.5:c.[144T>G;207G>T]

ENST00000553599.5:c.[144T>G;208A=]

ENST00000553599.5:c.[144T>G;210A>C]

ENST00000553599.5:c.[144T>G;210A>G]

ENST00000553599.5:c.[144T>G;210A>T]

ENST00000553599.5:c.[144T>G;211T>C]

ENST00000553599.5:c.[144T>G;211T=]

ENST00000553599.5:c.[144T>G;213G>A]

ENST00000553599.5:c.[144T>G;213G=]

ENST00000553599.5:c.[144T>G;216A>G]

ENST00000553599.5:c.[144T>G;218A=]

ENST00000553599.5:c.[144T>G;219T>C]

ENST00000553599.5:c.[144T>G;219T=]

ENST00000553599.5:c.[144T>G;222C>A]

ENST00000553599.5:c.[144T>G;222C=]

ENST00000553599.5:c.[144T>G;222C>G]

ENST00000553599.5:c.[144T>G;222C>T]

ENST00000553599.5:c.[144T>G;223G=]

ENST00000553599.5:c.[144T>G;224C=]

ENST00000553599.5:c.[144T>G;225C>A]

ENST00000553599.5:c.[144T>G;225C>G]

ENST00000553599.5:c.[144T>G;225C>T]