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
ENSP00000450652.1:p.Gly45Arg
ENST00000555254.5:c.[133G>C;136C=]

ENST00000555254.5:c.[133G>C;137A=]

ENST00000555254.5:c.[133G>C;138C=]

ENST00000555254.5:c.[133G>C;138C>T]

ENST00000555254.5:c.[133G>C;140C=]

ENST00000555254.5:c.[133G>C;141T>A]

ENST00000555254.5:c.[133G>C;141T>C]

ENST00000555254.5:c.[133G>C;141T>G]

ENST00000555254.5:c.[133G>C;141T=]

ENST00000555254.5:c.[133G>C;142G=]

ENST00000555254.5:c.[133G>C;144G>A]

ENST00000555254.5:c.[133G>C;145C=]

ENST00000555254.5:c.[133G>C;147A=]

ENST00000555254.5:c.[133G>C;147A>C]

ENST00000555254.5:c.[133G>C;147A>G]

ENST00000555254.5:c.[133G>C;147A>T]

ENST00000555254.5:c.[133G>C;148T>C]

ENST00000555254.5:c.[133G>C;148T=]

ENST00000555254.5:c.[133G>C;150A>G]

ENST00000555254.5:c.[133G>C;151T=]

ENST00000555254.5:c.[133G>C;152C=]

ENST00000555254.5:c.[133G>C;153T>A]

ENST00000555254.5:c.[133G>C;153T>C]

ENST00000555254.5:c.[133G>C;153T>G]

ENST00000555254.5:c.[133G>C;154A=]

ENST00000555254.5:c.[133G>C;156T>C]

ENST00000555254.5:c.[133G>C;159A>C]

ENST00000555254.5:c.[133G>C;159A>G]

ENST00000555254.5:c.[133G>C;159A>T]

ENST00000555254.5:c.[133G>C;160C>A]

ENST00000555254.5:c.[133G>C;160C=]

ENST00000555254.5:c.[133G>C;161G=]

ENST00000555254.5:c.[133G>C;162A>C]

ENST00000555254.5:c.[133G>C;162A>G]

ENST00000555254.5:c.[133G>C;162A>T]

ENST00000555254.5:c.[133G>C;163C=]

ENST00000555254.5:c.[133G>C;165C>A]

ENST00000555254.5:c.[133G>C;165C>G]

ENST00000555254.5:c.[133G>C;165C>T]

ENST00000555254.5:c.[133G>C;167A=]

ENST00000555254.5:c.[133G>C;168G>A]

ENST00000555254.5:c.[133G>C;168G=]

ENST00000555254.5:c.[133G>C;170G=]

ENST00000555254.5:c.[133G>C;171T>A]

ENST00000555254.5:c.[133G>C;171T>C]

ENST00000555254.5:c.[133G>C;171T>G]

ENST00000555254.5:c.[133G>C;171T=]

ENST00000555254.5:c.[133G>C;174C>T]

ENST00000555254.5:c.[133G>C;176C=]

ENST00000555254.5:c.[133G>C;177C>A]

ENST00000555254.5:c.[133G>C;177C=]

ENST00000555254.5:c.[133G>C;177C>G]

ENST00000555254.5:c.[133G>C;177C>T]

ENST00000555254.5:c.[133G>C;178C>A]

ENST00000555254.5:c.[133G>C;178C=]

ENST00000555254.5:c.[133G>C;179G=]

ENST00000555254.5:c.[133G>C;180G>A]

ENST00000555254.5:c.[133G>C;180G>C]

ENST00000555254.5:c.[133G>C;180G>T]

ENST00000555254.5:c.[133G>C;183G>A]

ENST00000555254.5:c.[133G>C;184G=]

ENST00000555254.5:c.[133G>C;185T=]

ENST00000555254.5:c.[133G>C;186G>A]

ENST00000555254.5:c.[133G>C;186G>C]

ENST00000555254.5:c.[133G>C;186G=]

ENST00000555254.5:c.[133G>C;186G>T]

ENST00000555254.5:c.[133G>C;188T=]

ENST00000555254.5:c.[133G>C;189G>A]

ENST00000555254.5:c.[133G>C;189G>C]

ENST00000555254.5:c.[133G>C;189G=]

ENST00000555254.5:c.[133G>C;189G>T]

ENST00000555254.5:c.[133G>C;192G>A]

ENST00000555254.5:c.[133G>C;192G=]

ENST00000555254.5:c.[133G>C;194A=]

ENST00000555254.5:c.[133G>C;195A>G]

ENST00000555254.5:c.[133G>C;197A=]

ENST00000555254.5:c.[133G>C;198T>C]

ENST00000555254.5:c.[133G>C;200A=]

ENST00000555254.5:c.[133G>C;201G>A]

ENST00000555254.5:c.[133G>C;201_204delins...

ENST00000555254.5:c.[133G>C;203A=]

ENST00000555254.5:c.[133G>C;204A>G]

ENST00000555254.5:c.[133G>C;207A=]

ENST00000555254.5:c.[133G>C;207A>G]

ENST00000555254.5:c.[133G>C;210T>C]

ENST00000555254.5:c.[133G>C;210T=]

ENST00000555254.5:c.[133G>C;210_213delins...

ENST00000555254.5:c.[133G>C;213G>A]

ENST00000555254.5:c.[133G>C;213G=]

ENST00000555254.5:c.[133G>C;214G=]

ENST00000555254.5:c.[133G>C;216G>A]

ENST00000555254.5:c.[133G>C;216G=]