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.Lys72Ile
ENST00000553599.5:c.[215A>T;218A=]

ENST00000553599.5:c.[215A>T;219T>C]

ENST00000553599.5:c.[215A>T;219T=]

ENST00000553599.5:c.[215A>T;222C>A]

ENST00000553599.5:c.[215A>T;222C=]

ENST00000553599.5:c.[215A>T;222C>G]

ENST00000553599.5:c.[215A>T;222C>T]

ENST00000553599.5:c.[215A>T;223G=]

ENST00000553599.5:c.[215A>T;224C=]

ENST00000553599.5:c.[215A>T;225C>A]

ENST00000553599.5:c.[215A>T;225C>G]

ENST00000553599.5:c.[215A>T;225C>T]

ENST00000553599.5:c.[215A>T;227A=]

ENST00000553599.5:c.[215A>T;228G>A]

ENST00000553599.5:c.[215A>T;228G=]

ENST00000553599.5:c.[215A>T;231T>C]

ENST00000553599.5:c.[215A>T;231T=]

ENST00000553599.5:c.[215A>T;232G=]

ENST00000553599.5:c.[215A>T;232_238delins...

ENST00000553599.5:c.[215A>T;234G>A]

ENST00000553599.5:c.[215A>T;234G>C]

ENST00000553599.5:c.[215A>T;234G>T]

ENST00000553599.5:c.[215A>T;237C>A]

ENST00000553599.5:c.[215A>T;237C>T]

ENST00000553599.5:c.[215A>T;238A=]

ENST00000553599.5:c.[215A>T;239T=]

ENST00000553599.5:c.[215A>T;241C>T;243C>A...

ENST00000553599.5:c.[215A>T;241C>T;243C>G...

ENST00000553599.5:c.[215A>T;242T=]

ENST00000553599.5:c.[215A>T;243C>A]

ENST00000553599.5:c.[215A>T;243C=]

ENST00000553599.5:c.[215A>T;243C>G]

ENST00000553599.5:c.[215A>T;243C>T]

ENST00000553599.5:c.[215A>T;245T=]

ENST00000553599.5:c.[215A>T;246T>C]

ENST00000553599.5:c.[215A>T;247G=]

ENST00000553599.5:c.[215A>T;249C>A]

ENST00000553599.5:c.[215A>T;249C=]

ENST00000553599.5:c.[215A>T;249C>G]

ENST00000553599.5:c.[215A>T;249C>T]

ENST00000553599.5:c.[215A>T;250C=]

ENST00000553599.5:c.[215A>T;251C=]

ENST00000553599.5:c.[215A>T;252T>A]

ENST00000553599.5:c.[215A>T;252T>C]

ENST00000553599.5:c.[215A>T;252T>G]

ENST00000553599.5:c.[215A>T;252T=]

ENST00000553599.5:c.[215A>T;253G=]

ENST00000553599.5:c.[215A>T;255G>A]

ENST00000553599.5:c.[215A>T;255G>C]

ENST00000553599.5:c.[215A>T;255G>T]

ENST00000553599.5:c.[215A>T;257C=]

ENST00000553599.5:c.[215A>T;258T>A]

ENST00000553599.5:c.[215A>T;258T>C]

ENST00000553599.5:c.[215A>T;258T>G]

ENST00000553599.5:c.[215A>T;259C=]

ENST00000553599.5:c.[215A>T;259C>T;261C>A...

ENST00000553599.5:c.[215A>T;259C>T;261C>G...

ENST00000553599.5:c.[215A>T;261C>A]

ENST00000553599.5:c.[215A>T;261C>G]

ENST00000553599.5:c.[215A>T;261C>T]

ENST00000553599.5:c.[215A>T;263G=]

ENST00000553599.5:c.[215A>T;264C>T]

ENST00000553599.5:c.[215A>T;265A=]

ENST00000553599.5:c.[215A>T;267G=]

ENST00000553599.5:c.[215A>T;268G=]

ENST00000553599.5:c.[215A>T;270G>A]

ENST00000553599.5:c.[215A>T;270G>C]

ENST00000553599.5:c.[215A>T;270G>T]