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.Arg38Trp
ENST00000553599.5:c.[112C>T;115A=]

ENST00000553599.5:c.[112C>T;116G=]

ENST00000553599.5:c.[112C>T;117C=]

ENST00000553599.5:c.[112C>T;117C>T]

ENST00000553599.5:c.[112C>T;118C>T;120T>A...

ENST00000553599.5:c.[112C>T;118C>T;120T>G...

ENST00000553599.5:c.[112C>T;119_135delins...

ENST00000553599.5:c.[112C>T;120T>A]

ENST00000553599.5:c.[112C>T;120T>C]

ENST00000553599.5:c.[112C>T;120T>G]

ENST00000553599.5:c.[112C>T;123C>A]

ENST00000553599.5:c.[112C>T;123C>G]

ENST00000553599.5:c.[112C>T;123C>T]

ENST00000553599.5:c.[112C>T;124C=]

ENST00000553599.5:c.[112C>T;125A=]

ENST00000553599.5:c.[112C>T;126C=]

ENST00000553599.5:c.[112C>T;126C>T]

ENST00000553599.5:c.[112C>T;128C=]

ENST00000553599.5:c.[112C>T;129T>A]

ENST00000553599.5:c.[112C>T;129T>C]

ENST00000553599.5:c.[112C>T;129T>G]

ENST00000553599.5:c.[112C>T;129T=]

ENST00000553599.5:c.[112C>T;130G=]

ENST00000553599.5:c.[112C>T;132G>A]

ENST00000553599.5:c.[112C>T;133C=]

ENST00000553599.5:c.[112C>T;135A=]

ENST00000553599.5:c.[112C>T;135A>C]

ENST00000553599.5:c.[112C>T;135A>G]

ENST00000553599.5:c.[112C>T;135A>T]

ENST00000553599.5:c.[112C>T;136T>C]

ENST00000553599.5:c.[112C>T;136T=]

ENST00000553599.5:c.[112C>T;138A>G]

ENST00000553599.5:c.[112C>T;139T=]

ENST00000553599.5:c.[112C>T;140C=]

ENST00000553599.5:c.[112C>T;141T>A]

ENST00000553599.5:c.[112C>T;141T>C]

ENST00000553599.5:c.[112C>T;141T>G]

ENST00000553599.5:c.[112C>T;142A=]

ENST00000553599.5:c.[112C>T;144T>C]

ENST00000553599.5:c.[112C>T;147A>C]

ENST00000553599.5:c.[112C>T;147A>G]

ENST00000553599.5:c.[112C>T;147A>T]

ENST00000553599.5:c.[112C>T;148C>A]

ENST00000553599.5:c.[112C>T;148C=]

ENST00000553599.5:c.[112C>T;149G=]

ENST00000553599.5:c.[112C>T;150A>C]

ENST00000553599.5:c.[112C>T;150A>G]

ENST00000553599.5:c.[112C>T;150A>T]

ENST00000553599.5:c.[112C>T;151C=]

ENST00000553599.5:c.[112C>T;153C>A]

ENST00000553599.5:c.[112C>T;153C>G]

ENST00000553599.5:c.[112C>T;153C>T]

ENST00000553599.5:c.[112C>T;155A=]

ENST00000553599.5:c.[112C>T;156G>A]

ENST00000553599.5:c.[112C>T;156G=]

ENST00000553599.5:c.[112C>T;158G=]

ENST00000553599.5:c.[112C>T;159T>A]

ENST00000553599.5:c.[112C>T;159T>C]

ENST00000553599.5:c.[112C>T;159T>G]

ENST00000553599.5:c.[112C>T;159T=]

ENST00000553599.5:c.[112C>T;162C>T]

ENST00000553599.5:c.[112C>T;164C=]

ENST00000553599.5:c.[112C>T;165C>A]

ENST00000553599.5:c.[112C>T;165C=]

ENST00000553599.5:c.[112C>T;165C>G]

ENST00000553599.5:c.[112C>T;165C>T]

ENST00000553599.5:c.[112C>T;166C>A]

ENST00000553599.5:c.[112C>T;166C=]

ENST00000553599.5:c.[112C>T;167G=]

ENST00000553599.5:c.[112C>T;168G>A]

ENST00000553599.5:c.[112C>T;168G>C]

ENST00000553599.5:c.[112C>T;168G>T]

ENST00000553599.5:c.[112C>T;171G>A]

ENST00000553599.5:c.[112C>T;172G=]

ENST00000553599.5:c.[112C>T;173T=]

ENST00000553599.5:c.[112C>T;174G>A]

ENST00000553599.5:c.[112C>T;174G>C]

ENST00000553599.5:c.[112C>T;174G=]

ENST00000553599.5:c.[112C>T;174G>T]

ENST00000553599.5:c.[112C>T;176T=]

ENST00000553599.5:c.[112C>T;177G>A]

ENST00000553599.5:c.[112C>T;177G>C]

ENST00000553599.5:c.[112C>T;177G=]

ENST00000553599.5:c.[112C>T;177G>T]

ENST00000553599.5:c.[112C>T;180G>A]

ENST00000553599.5:c.[112C>T;180G=]

ENST00000553599.5:c.[112C>T;182A=]

ENST00000553599.5:c.[112C>T;183A>G]

ENST00000553599.5:c.[112C>T;185A=]

ENST00000553599.5:c.[112C>T;186T>C]

ENST00000553599.5:c.[112C>T;188A=]

ENST00000553599.5:c.[112C>T;189G>A]

ENST00000553599.5:c.[112C>T;189_192delins...

ENST00000553599.5:c.[112C>T;191A=]

ENST00000553599.5:c.[112C>T;192A>G]

ENST00000553599.5:c.[112C>T;195A=]

ENST00000553599.5:c.[112C>T;195A>G]