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.Arg38Pro
ENST00000553599.5:c.[113G>C;115A=]

ENST00000553599.5:c.[113G>C;116G=]

ENST00000553599.5:c.[113G>C;117C=]

ENST00000553599.5:c.[113G>C;117C>T]

ENST00000553599.5:c.[113G>C;118C>T;120T>A...

ENST00000553599.5:c.[113G>C;118C>T;120T>G...

ENST00000553599.5:c.[113G>C;119_135delins...

ENST00000553599.5:c.[113G>C;120T>A]

ENST00000553599.5:c.[113G>C;120T>C]

ENST00000553599.5:c.[113G>C;120T>G]

ENST00000553599.5:c.[113G>C;123C>A]

ENST00000553599.5:c.[113G>C;123C>G]

ENST00000553599.5:c.[113G>C;123C>T]

ENST00000553599.5:c.[113G>C;124C=]

ENST00000553599.5:c.[113G>C;125A=]

ENST00000553599.5:c.[113G>C;126C=]

ENST00000553599.5:c.[113G>C;126C>T]

ENST00000553599.5:c.[113G>C;128C=]

ENST00000553599.5:c.[113G>C;129T>A]

ENST00000553599.5:c.[113G>C;129T>C]

ENST00000553599.5:c.[113G>C;129T>G]

ENST00000553599.5:c.[113G>C;129T=]

ENST00000553599.5:c.[113G>C;130G=]

ENST00000553599.5:c.[113G>C;132G>A]

ENST00000553599.5:c.[113G>C;133C=]

ENST00000553599.5:c.[113G>C;135A=]

ENST00000553599.5:c.[113G>C;135A>C]

ENST00000553599.5:c.[113G>C;135A>G]

ENST00000553599.5:c.[113G>C;135A>T]

ENST00000553599.5:c.[113G>C;136T>C]

ENST00000553599.5:c.[113G>C;136T=]

ENST00000553599.5:c.[113G>C;138A>G]

ENST00000553599.5:c.[113G>C;139T=]

ENST00000553599.5:c.[113G>C;140C=]

ENST00000553599.5:c.[113G>C;141T>A]

ENST00000553599.5:c.[113G>C;141T>C]

ENST00000553599.5:c.[113G>C;141T>G]

ENST00000553599.5:c.[113G>C;142A=]

ENST00000553599.5:c.[113G>C;144T>C]

ENST00000553599.5:c.[113G>C;147A>C]

ENST00000553599.5:c.[113G>C;147A>G]

ENST00000553599.5:c.[113G>C;147A>T]

ENST00000553599.5:c.[113G>C;148C>A]

ENST00000553599.5:c.[113G>C;148C=]

ENST00000553599.5:c.[113G>C;149G=]

ENST00000553599.5:c.[113G>C;150A>C]

ENST00000553599.5:c.[113G>C;150A>G]

ENST00000553599.5:c.[113G>C;150A>T]

ENST00000553599.5:c.[113G>C;151C=]

ENST00000553599.5:c.[113G>C;153C>A]

ENST00000553599.5:c.[113G>C;153C>G]

ENST00000553599.5:c.[113G>C;153C>T]

ENST00000553599.5:c.[113G>C;155A=]

ENST00000553599.5:c.[113G>C;156G>A]

ENST00000553599.5:c.[113G>C;156G=]

ENST00000553599.5:c.[113G>C;158G=]

ENST00000553599.5:c.[113G>C;159T>A]

ENST00000553599.5:c.[113G>C;159T>C]

ENST00000553599.5:c.[113G>C;159T>G]

ENST00000553599.5:c.[113G>C;159T=]

ENST00000553599.5:c.[113G>C;162C>T]

ENST00000553599.5:c.[113G>C;164C=]

ENST00000553599.5:c.[113G>C;165C>A]

ENST00000553599.5:c.[113G>C;165C=]

ENST00000553599.5:c.[113G>C;165C>G]

ENST00000553599.5:c.[113G>C;165C>T]

ENST00000553599.5:c.[113G>C;166C>A]

ENST00000553599.5:c.[113G>C;166C=]

ENST00000553599.5:c.[113G>C;167G=]

ENST00000553599.5:c.[113G>C;168G>A]

ENST00000553599.5:c.[113G>C;168G>C]

ENST00000553599.5:c.[113G>C;168G>T]

ENST00000553599.5:c.[113G>C;171G>A]

ENST00000553599.5:c.[113G>C;172G=]

ENST00000553599.5:c.[113G>C;173T=]

ENST00000553599.5:c.[113G>C;174G>A]

ENST00000553599.5:c.[113G>C;174G>C]

ENST00000553599.5:c.[113G>C;174G=]

ENST00000553599.5:c.[113G>C;174G>T]

ENST00000553599.5:c.[113G>C;176T=]

ENST00000553599.5:c.[113G>C;177G>A]

ENST00000553599.5:c.[113G>C;177G>C]

ENST00000553599.5:c.[113G>C;177G=]

ENST00000553599.5:c.[113G>C;177G>T]

ENST00000553599.5:c.[113G>C;180G>A]

ENST00000553599.5:c.[113G>C;180G=]

ENST00000553599.5:c.[113G>C;182A=]

ENST00000553599.5:c.[113G>C;183A>G]

ENST00000553599.5:c.[113G>C;185A=]

ENST00000553599.5:c.[113G>C;186T>C]

ENST00000553599.5:c.[113G>C;188A=]

ENST00000553599.5:c.[113G>C;189G>A]

ENST00000553599.5:c.[113G>C;189_192delins...

ENST00000553599.5:c.[113G>C;191A=]

ENST00000553599.5:c.[113G>C;192A>G]

ENST00000553599.5:c.[113G>C;195A=]

ENST00000553599.5:c.[113G>C;195A>G]