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
ENSP00000451880.1:p.His38Leu
ENST00000557293.5:c.[113A>T;115A=]

ENST00000557293.5:c.[113A>T;115_118delins...

ENST00000557293.5:c.[113A>T;117C=]

ENST00000557293.5:c.[113A>T;117C>T]

ENST00000557293.5:c.[113A>T;118G=]

ENST00000557293.5:c.[113A>T;119A=]

ENST00000557293.5:c.[113A>T;120C=]

ENST00000557293.5:c.[113A>T;120C>T]

ENST00000557293.5:c.[113A>T;121A=]

ENST00000557293.5:c.[113A>T;121A>C]

ENST00000557293.5:c.[113A>T;122G=]

ENST00000557293.5:c.[113A>T;123A=]

ENST00000557293.5:c.[113A>T;123A>G]

ENST00000557293.5:c.[113A>T;124C>A]

ENST00000557293.5:c.[113A>T;124C=]

ENST00000557293.5:c.[113A>T;125G=]

ENST00000557293.5:c.[113A>T;126G>A]

ENST00000557293.5:c.[113A>T;126G>C]

ENST00000557293.5:c.[113A>T;126G>T]

ENST00000557293.5:c.[113A>T;127A=]

ENST00000557293.5:c.[113A>T;128G=]

ENST00000557293.5:c.[113A>T;129C=]

ENST00000557293.5:c.[113A>T;129C>T]

ENST00000557293.5:c.[113A>T;130C>T;132T>A...

ENST00000557293.5:c.[113A>T;130C>T;132T>G...

ENST00000557293.5:c.[113A>T;131_147delins...

ENST00000557293.5:c.[113A>T;132T>A]

ENST00000557293.5:c.[113A>T;132T>C]

ENST00000557293.5:c.[113A>T;132T>G]

ENST00000557293.5:c.[113A>T;135C>A]

ENST00000557293.5:c.[113A>T;135C>G]

ENST00000557293.5:c.[113A>T;135C>T]

ENST00000557293.5:c.[113A>T;136C=]

ENST00000557293.5:c.[113A>T;137A=]

ENST00000557293.5:c.[113A>T;138C=]

ENST00000557293.5:c.[113A>T;138C>T]

ENST00000557293.5:c.[113A>T;140C=]

ENST00000557293.5:c.[113A>T;141T>A]

ENST00000557293.5:c.[113A>T;141T>C]

ENST00000557293.5:c.[113A>T;141T>G]

ENST00000557293.5:c.[113A>T;141T=]

ENST00000557293.5:c.[113A>T;142G=]

ENST00000557293.5:c.[113A>T;144G>A]

ENST00000557293.5:c.[113A>T;145C=]

ENST00000557293.5:c.[113A>T;147A=]

ENST00000557293.5:c.[113A>T;147A>C]

ENST00000557293.5:c.[113A>T;147A>G]

ENST00000557293.5:c.[113A>T;147A>T]

ENST00000557293.5:c.[113A>T;148T>C]

ENST00000557293.5:c.[113A>T;148T=]

ENST00000557293.5:c.[113A>T;150A>G]

ENST00000557293.5:c.[113A>T;151T=]

ENST00000557293.5:c.[113A>T;152C=]

ENST00000557293.5:c.[113A>T;153T>A]

ENST00000557293.5:c.[113A>T;153T>C]

ENST00000557293.5:c.[113A>T;153T>G]

ENST00000557293.5:c.[113A>T;154A=]

ENST00000557293.5:c.[113A>T;156T>C]

ENST00000557293.5:c.[113A>T;159A>C]

ENST00000557293.5:c.[113A>T;159A>G]

ENST00000557293.5:c.[113A>T;159A>T]

ENST00000557293.5:c.[113A>T;160C>A]

ENST00000557293.5:c.[113A>T;160C=]

ENST00000557293.5:c.[113A>T;161G=]

ENST00000557293.5:c.[113A>T;162A>C]

ENST00000557293.5:c.[113A>T;162A>G]

ENST00000557293.5:c.[113A>T;162A>T]

ENST00000557293.5:c.[113A>T;163C=]

ENST00000557293.5:c.[113A>T;165C>A]

ENST00000557293.5:c.[113A>T;165C>G]

ENST00000557293.5:c.[113A>T;165C>T]

ENST00000557293.5:c.[113A>T;167A=]

ENST00000557293.5:c.[113A>T;168G>A]

ENST00000557293.5:c.[113A>T;168G=]

ENST00000557293.5:c.[113A>T;170G=]

ENST00000557293.5:c.[113A>T;171T>A]

ENST00000557293.5:c.[113A>T;171T>C]

ENST00000557293.5:c.[113A>T;171T>G]

ENST00000557293.5:c.[113A>T;171T=]

ENST00000557293.5:c.[113A>T;174C>T]

ENST00000557293.5:c.[113A>T;176C=]

ENST00000557293.5:c.[113A>T;177C>A]

ENST00000557293.5:c.[113A>T;177C=]

ENST00000557293.5:c.[113A>T;177C>G]

ENST00000557293.5:c.[113A>T;177C>T]

ENST00000557293.5:c.[113A>T;178C>A]

ENST00000557293.5:c.[113A>T;178C=]

ENST00000557293.5:c.[113A>T;179G=]

ENST00000557293.5:c.[113A>T;180G>A]

ENST00000557293.5:c.[113A>T;180G>C]

ENST00000557293.5:c.[113A>T;180G>T]

ENST00000557293.5:c.[113A>T;183G>A]

ENST00000557293.5:c.[113A>T;184G=]

ENST00000557293.5:c.[113A>T;185T=]

ENST00000557293.5:c.[113A>T;186G>A]

ENST00000557293.5:c.[113A>T;186G>C]

ENST00000557293.5:c.[113A>T;186G=]

ENST00000557293.5:c.[113A>T;186G>T]

ENST00000557293.5:c.[113A>T;188T=]

ENST00000557293.5:c.[113A>T;189G>A]

ENST00000557293.5:c.[113A>T;189G>C]

ENST00000557293.5:c.[113A>T;189G=]

ENST00000557293.5:c.[113A>T;189G>T]

ENST00000557293.5:c.[113A>T;192G>A]

ENST00000557293.5:c.[113A>T;192G=]

ENST00000557293.5:c.[113A>T;194A=]

ENST00000557293.5:c.[113A>T;195A>G]