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.Val85Leu
ENST00000553599.5:c.[253G>C;257C=]

ENST00000553599.5:c.[253G>C;258T>A]

ENST00000553599.5:c.[253G>C;258T>C]

ENST00000553599.5:c.[253G>C;258T>G]

ENST00000553599.5:c.[253G>C;259C=]

ENST00000553599.5:c.[253G>C;259C>T;261C>A...

ENST00000553599.5:c.[253G>C;259C>T;261C>G...

ENST00000553599.5:c.[253G>C;261C>A]

ENST00000553599.5:c.[253G>C;261C>G]

ENST00000553599.5:c.[253G>C;261C>T]

ENST00000553599.5:c.[253G>C;263G=]

ENST00000553599.5:c.[253G>C;264C>T]

ENST00000553599.5:c.[253G>C;265A=]

ENST00000553599.5:c.[253G>C;267G=]

ENST00000553599.5:c.[253G>C;268G=]

ENST00000553599.5:c.[253G>C;270G>A]

ENST00000553599.5:c.[253G>C;270G>C]

ENST00000553599.5:c.[253G>C;270G>T]

ENST00000553599.5:c.[253G>T;257C=]

ENST00000553599.5:c.[253G>T;258T>A]

ENST00000553599.5:c.[253G>T;258T>C]

ENST00000553599.5:c.[253G>T;258T>G]

ENST00000553599.5:c.[253G>T;259C=]

ENST00000553599.5:c.[253G>T;259C>T;261C>A...

ENST00000553599.5:c.[253G>T;259C>T;261C>G...

ENST00000553599.5:c.[253G>T;261C>A]

ENST00000553599.5:c.[253G>T;261C>G]

ENST00000553599.5:c.[253G>T;261C>T]

ENST00000553599.5:c.[253G>T;263G=]

ENST00000553599.5:c.[253G>T;264C>T]

ENST00000553599.5:c.[253G>T;265A=]

ENST00000553599.5:c.[253G>T;267G=]

ENST00000553599.5:c.[253G>T;268G=]

ENST00000553599.5:c.[253G>T;270G>A]

ENST00000553599.5:c.[253G>T;270G>C]

ENST00000553599.5:c.[253G>T;270G>T]