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.Phe82Leu
ENST00000553599.5:c.[244T>C;247G=]

ENST00000553599.5:c.[244T>C;249C>A]

ENST00000553599.5:c.[244T>C;249C=]

ENST00000553599.5:c.[244T>C;249C>G]

ENST00000553599.5:c.[244T>C;249C>T]

ENST00000553599.5:c.[244T>C;250C=]

ENST00000553599.5:c.[244T>C;251C=]

ENST00000553599.5:c.[244T>C;252T>A]

ENST00000553599.5:c.[244T>C;252T>C]

ENST00000553599.5:c.[244T>C;252T>G]

ENST00000553599.5:c.[244T>C;252T=]

ENST00000553599.5:c.[244T>C;253G=]

ENST00000553599.5:c.[244T>C;255G>A]

ENST00000553599.5:c.[244T>C;255G>C]

ENST00000553599.5:c.[244T>C;255G>T]

ENST00000553599.5:c.[244T>C;257C=]

ENST00000553599.5:c.[244T>C;258T>A]

ENST00000553599.5:c.[244T>C;258T>C]

ENST00000553599.5:c.[244T>C;258T>G]

ENST00000553599.5:c.[244T>C;259C=]

ENST00000553599.5:c.[244T>C;259C>T;261C>A...

ENST00000553599.5:c.[244T>C;259C>T;261C>G...

ENST00000553599.5:c.[244T>C;261C>A]

ENST00000553599.5:c.[244T>C;261C>G]

ENST00000553599.5:c.[244T>C;261C>T]

ENST00000553599.5:c.[244T>C;263G=]

ENST00000553599.5:c.[244T>C;264C>T]

ENST00000553599.5:c.[244T>C;265A=]

ENST00000553599.5:c.[244T>C;267G=]

ENST00000553599.5:c.[244T>C;268G=]

ENST00000553599.5:c.[244T>C;270G>A]

ENST00000553599.5:c.[244T>C;270G>C]

ENST00000553599.5:c.[244T>C;270G>T]

ENST00000553599.5:c.[246T>A;247G=]

ENST00000553599.5:c.[246T>A;249C>A]

ENST00000553599.5:c.[246T>A;249C=]

ENST00000553599.5:c.[246T>A;249C>G]

ENST00000553599.5:c.[246T>A;249C>T]

ENST00000553599.5:c.[246T>A;250C=]

ENST00000553599.5:c.[246T>A;251C=]

ENST00000553599.5:c.[246T>A;252T>A]

ENST00000553599.5:c.[246T>A;252T>C]

ENST00000553599.5:c.[246T>A;252T>G]

ENST00000553599.5:c.[246T>A;252T=]

ENST00000553599.5:c.[246T>A;253G=]

ENST00000553599.5:c.[246T>A;255G>A]

ENST00000553599.5:c.[246T>A;255G>C]

ENST00000553599.5:c.[246T>A;255G>T]

ENST00000553599.5:c.[246T>A;257C=]

ENST00000553599.5:c.[246T>A;258T>A]

ENST00000553599.5:c.[246T>A;258T>C]

ENST00000553599.5:c.[246T>A;258T>G]

ENST00000553599.5:c.[246T>A;259C=]

ENST00000553599.5:c.[246T>A;259C>T;261C>A...

ENST00000553599.5:c.[246T>A;259C>T;261C>G...

ENST00000553599.5:c.[246T>A;261C>A]

ENST00000553599.5:c.[246T>A;261C>G]

ENST00000553599.5:c.[246T>A;261C>T]

ENST00000553599.5:c.[246T>A;263G=]

ENST00000553599.5:c.[246T>A;264C>T]

ENST00000553599.5:c.[246T>A;265A=]

ENST00000553599.5:c.[246T>A;267G=]

ENST00000553599.5:c.[246T>A;268G=]

ENST00000553599.5:c.[246T>A;270G>A]

ENST00000553599.5:c.[246T>A;270G>C]

ENST00000553599.5:c.[246T>A;270G>T]

ENST00000553599.5:c.[246T>G;247G=]

ENST00000553599.5:c.[246T>G;249C>A]

ENST00000553599.5:c.[246T>G;249C=]

ENST00000553599.5:c.[246T>G;249C>G]

ENST00000553599.5:c.[246T>G;249C>T]

ENST00000553599.5:c.[246T>G;250C=]

ENST00000553599.5:c.[246T>G;251C=]

ENST00000553599.5:c.[246T>G;252T>A]

ENST00000553599.5:c.[246T>G;252T>C]

ENST00000553599.5:c.[246T>G;252T>G]

ENST00000553599.5:c.[246T>G;252T=]

ENST00000553599.5:c.[246T>G;253G=]

ENST00000553599.5:c.[246T>G;255G>A]

ENST00000553599.5:c.[246T>G;255G>C]

ENST00000553599.5:c.[246T>G;255G>T]

ENST00000553599.5:c.[246T>G;257C=]

ENST00000553599.5:c.[246T>G;258T>A]

ENST00000553599.5:c.[246T>G;258T>C]

ENST00000553599.5:c.[246T>G;258T>G]

ENST00000553599.5:c.[246T>G;259C=]

ENST00000553599.5:c.[246T>G;259C>T;261C>A...

ENST00000553599.5:c.[246T>G;259C>T;261C>G...

ENST00000553599.5:c.[246T>G;261C>A]

ENST00000553599.5:c.[246T>G;261C>G]

ENST00000553599.5:c.[246T>G;261C>T]

ENST00000553599.5:c.[246T>G;263G=]

ENST00000553599.5:c.[246T>G;264C>T]

ENST00000553599.5:c.[246T>G;265A=]

ENST00000553599.5:c.[246T>G;267G=]

ENST00000553599.5:c.[246T>G;268G=]

ENST00000553599.5:c.[246T>G;270G>A]

ENST00000553599.5:c.[246T>G;270G>C]

ENST00000553599.5:c.[246T>G;270G>T]