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.Tyr73Asp
ENST00000553599.5:c.[217T>G;222C>A]

ENST00000553599.5:c.[217T>G;222C=]

ENST00000553599.5:c.[217T>G;222C>G]

ENST00000553599.5:c.[217T>G;222C>T]

ENST00000553599.5:c.[217T>G;223G=]

ENST00000553599.5:c.[217T>G;224C=]

ENST00000553599.5:c.[217T>G;225C>A]

ENST00000553599.5:c.[217T>G;225C>G]

ENST00000553599.5:c.[217T>G;225C>T]

ENST00000553599.5:c.[217T>G;227A=]

ENST00000553599.5:c.[217T>G;228G>A]

ENST00000553599.5:c.[217T>G;228G=]

ENST00000553599.5:c.[217T>G;231T>C]

ENST00000553599.5:c.[217T>G;231T=]

ENST00000553599.5:c.[217T>G;232G=]

ENST00000553599.5:c.[217T>G;232_238delins...

ENST00000553599.5:c.[217T>G;234G>A]

ENST00000553599.5:c.[217T>G;234G>C]

ENST00000553599.5:c.[217T>G;234G>T]

ENST00000553599.5:c.[217T>G;237C>A]

ENST00000553599.5:c.[217T>G;237C>T]

ENST00000553599.5:c.[217T>G;238A=]

ENST00000553599.5:c.[217T>G;239T=]

ENST00000553599.5:c.[217T>G;241C>T;243C>A...

ENST00000553599.5:c.[217T>G;241C>T;243C>G...

ENST00000553599.5:c.[217T>G;242T=]

ENST00000553599.5:c.[217T>G;243C>A]

ENST00000553599.5:c.[217T>G;243C=]

ENST00000553599.5:c.[217T>G;243C>G]

ENST00000553599.5:c.[217T>G;243C>T]

ENST00000553599.5:c.[217T>G;245T=]

ENST00000553599.5:c.[217T>G;246T>C]

ENST00000553599.5:c.[217T>G;247G=]

ENST00000553599.5:c.[217T>G;249C>A]

ENST00000553599.5:c.[217T>G;249C=]

ENST00000553599.5:c.[217T>G;249C>G]

ENST00000553599.5:c.[217T>G;249C>T]

ENST00000553599.5:c.[217T>G;250C=]

ENST00000553599.5:c.[217T>G;251C=]

ENST00000553599.5:c.[217T>G;252T>A]

ENST00000553599.5:c.[217T>G;252T>C]

ENST00000553599.5:c.[217T>G;252T>G]

ENST00000553599.5:c.[217T>G;252T=]

ENST00000553599.5:c.[217T>G;253G=]

ENST00000553599.5:c.[217T>G;255G>A]

ENST00000553599.5:c.[217T>G;255G>C]

ENST00000553599.5:c.[217T>G;255G>T]

ENST00000553599.5:c.[217T>G;257C=]

ENST00000553599.5:c.[217T>G;258T>A]

ENST00000553599.5:c.[217T>G;258T>C]

ENST00000553599.5:c.[217T>G;258T>G]

ENST00000553599.5:c.[217T>G;259C=]

ENST00000553599.5:c.[217T>G;259C>T;261C>A...

ENST00000553599.5:c.[217T>G;259C>T;261C>G...

ENST00000553599.5:c.[217T>G;261C>A]

ENST00000553599.5:c.[217T>G;261C>G]

ENST00000553599.5:c.[217T>G;261C>T]

ENST00000553599.5:c.[217T>G;263G=]

ENST00000553599.5:c.[217T>G;264C>T]

ENST00000553599.5:c.[217T>G;265A=]

ENST00000553599.5:c.[217T>G;267G=]

ENST00000553599.5:c.[217T>G;268G=]

ENST00000553599.5:c.[217T>G;270G>A]

ENST00000553599.5:c.[217T>G;270G>C]

ENST00000553599.5:c.[217T>G;270G>T]