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.Leu40Val
ENST00000553599.5:c.[118C>G;123C>A]

ENST00000553599.5:c.[118C>G;123C>G]

ENST00000553599.5:c.[118C>G;123C>T]

ENST00000553599.5:c.[118C>G;124C=]

ENST00000553599.5:c.[118C>G;125A=]

ENST00000553599.5:c.[118C>G;126C=]

ENST00000553599.5:c.[118C>G;126C>T]

ENST00000553599.5:c.[118C>G;128C=]

ENST00000553599.5:c.[118C>G;129T>A]

ENST00000553599.5:c.[118C>G;129T>C]

ENST00000553599.5:c.[118C>G;129T>G]

ENST00000553599.5:c.[118C>G;129T=]

ENST00000553599.5:c.[118C>G;130G=]

ENST00000553599.5:c.[118C>G;132G>A]

ENST00000553599.5:c.[118C>G;133C=]

ENST00000553599.5:c.[118C>G;135A=]

ENST00000553599.5:c.[118C>G;135A>C]

ENST00000553599.5:c.[118C>G;135A>G]

ENST00000553599.5:c.[118C>G;135A>T]

ENST00000553599.5:c.[118C>G;136T>C]

ENST00000553599.5:c.[118C>G;136T=]

ENST00000553599.5:c.[118C>G;138A>G]

ENST00000553599.5:c.[118C>G;139T=]

ENST00000553599.5:c.[118C>G;140C=]

ENST00000553599.5:c.[118C>G;141T>A]

ENST00000553599.5:c.[118C>G;141T>C]

ENST00000553599.5:c.[118C>G;141T>G]

ENST00000553599.5:c.[118C>G;142A=]

ENST00000553599.5:c.[118C>G;144T>C]

ENST00000553599.5:c.[118C>G;147A>C]

ENST00000553599.5:c.[118C>G;147A>G]

ENST00000553599.5:c.[118C>G;147A>T]

ENST00000553599.5:c.[118C>G;148C>A]

ENST00000553599.5:c.[118C>G;148C=]

ENST00000553599.5:c.[118C>G;149G=]

ENST00000553599.5:c.[118C>G;150A>C]

ENST00000553599.5:c.[118C>G;150A>G]

ENST00000553599.5:c.[118C>G;150A>T]

ENST00000553599.5:c.[118C>G;151C=]

ENST00000553599.5:c.[118C>G;153C>A]

ENST00000553599.5:c.[118C>G;153C>G]

ENST00000553599.5:c.[118C>G;153C>T]

ENST00000553599.5:c.[118C>G;155A=]

ENST00000553599.5:c.[118C>G;156G>A]

ENST00000553599.5:c.[118C>G;156G=]

ENST00000553599.5:c.[118C>G;158G=]

ENST00000553599.5:c.[118C>G;159T>A]

ENST00000553599.5:c.[118C>G;159T>C]

ENST00000553599.5:c.[118C>G;159T>G]

ENST00000553599.5:c.[118C>G;159T=]

ENST00000553599.5:c.[118C>G;162C>T]

ENST00000553599.5:c.[118C>G;164C=]

ENST00000553599.5:c.[118C>G;165C>A]

ENST00000553599.5:c.[118C>G;165C=]

ENST00000553599.5:c.[118C>G;165C>G]

ENST00000553599.5:c.[118C>G;165C>T]

ENST00000553599.5:c.[118C>G;166C>A]

ENST00000553599.5:c.[118C>G;166C=]

ENST00000553599.5:c.[118C>G;167G=]

ENST00000553599.5:c.[118C>G;168G>A]

ENST00000553599.5:c.[118C>G;168G>C]

ENST00000553599.5:c.[118C>G;168G>T]

ENST00000553599.5:c.[118C>G;171G>A]

ENST00000553599.5:c.[118C>G;172G=]

ENST00000553599.5:c.[118C>G;173T=]

ENST00000553599.5:c.[118C>G;174G>A]

ENST00000553599.5:c.[118C>G;174G>C]

ENST00000553599.5:c.[118C>G;174G=]

ENST00000553599.5:c.[118C>G;174G>T]

ENST00000553599.5:c.[118C>G;176T=]

ENST00000553599.5:c.[118C>G;177G>A]

ENST00000553599.5:c.[118C>G;177G>C]

ENST00000553599.5:c.[118C>G;177G=]

ENST00000553599.5:c.[118C>G;177G>T]

ENST00000553599.5:c.[118C>G;180G>A]

ENST00000553599.5:c.[118C>G;180G=]

ENST00000553599.5:c.[118C>G;182A=]

ENST00000553599.5:c.[118C>G;183A>G]

ENST00000553599.5:c.[118C>G;185A=]

ENST00000553599.5:c.[118C>G;186T>C]

ENST00000553599.5:c.[118C>G;188A=]

ENST00000553599.5:c.[118C>G;189G>A]

ENST00000553599.5:c.[118C>G;189_192delins...

ENST00000553599.5:c.[118C>G;191A=]

ENST00000553599.5:c.[118C>G;192A>G]

ENST00000553599.5:c.[118C>G;195A=]

ENST00000553599.5:c.[118C>G;195A>G]

ENST00000553599.5:c.[118C>G;198T>C]

ENST00000553599.5:c.[118C>G;198T=]

ENST00000553599.5:c.[118C>G;198_201delins...

ENST00000553599.5:c.[118C>G;201G>A]

ENST00000553599.5:c.[118C>G;201G=]