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.Arg37Ser
ENST00000553599.5:c.[111A>C;112C>A]

ENST00000553599.5:c.[111A>C;112C=]

ENST00000553599.5:c.[111A>C;113G=]

ENST00000553599.5:c.[111A>C;114G>A]

ENST00000553599.5:c.[111A>C;114G>C]

ENST00000553599.5:c.[111A>C;114G>T]

ENST00000553599.5:c.[111A>C;115A=]

ENST00000553599.5:c.[111A>C;116G=]

ENST00000553599.5:c.[111A>C;117C=]

ENST00000553599.5:c.[111A>C;117C>T]

ENST00000553599.5:c.[111A>C;118C>T;120T>A...

ENST00000553599.5:c.[111A>C;118C>T;120T>G...

ENST00000553599.5:c.[111A>C;119_135delins...

ENST00000553599.5:c.[111A>C;120T>A]

ENST00000553599.5:c.[111A>C;120T>C]

ENST00000553599.5:c.[111A>C;120T>G]

ENST00000553599.5:c.[111A>C;123C>A]

ENST00000553599.5:c.[111A>C;123C>G]

ENST00000553599.5:c.[111A>C;123C>T]

ENST00000553599.5:c.[111A>C;124C=]

ENST00000553599.5:c.[111A>C;125A=]

ENST00000553599.5:c.[111A>C;126C=]

ENST00000553599.5:c.[111A>C;126C>T]

ENST00000553599.5:c.[111A>C;128C=]

ENST00000553599.5:c.[111A>C;129T>A]

ENST00000553599.5:c.[111A>C;129T>C]

ENST00000553599.5:c.[111A>C;129T>G]

ENST00000553599.5:c.[111A>C;129T=]

ENST00000553599.5:c.[111A>C;130G=]

ENST00000553599.5:c.[111A>C;132G>A]

ENST00000553599.5:c.[111A>C;133C=]

ENST00000553599.5:c.[111A>C;135A=]

ENST00000553599.5:c.[111A>C;135A>C]

ENST00000553599.5:c.[111A>C;135A>G]

ENST00000553599.5:c.[111A>C;135A>T]

ENST00000553599.5:c.[111A>C;136T>C]

ENST00000553599.5:c.[111A>C;136T=]

ENST00000553599.5:c.[111A>C;138A>G]

ENST00000553599.5:c.[111A>C;139T=]

ENST00000553599.5:c.[111A>C;140C=]

ENST00000553599.5:c.[111A>C;141T>A]

ENST00000553599.5:c.[111A>C;141T>C]

ENST00000553599.5:c.[111A>C;141T>G]

ENST00000553599.5:c.[111A>C;142A=]

ENST00000553599.5:c.[111A>C;144T>C]

ENST00000553599.5:c.[111A>C;147A>C]

ENST00000553599.5:c.[111A>C;147A>G]

ENST00000553599.5:c.[111A>C;147A>T]

ENST00000553599.5:c.[111A>C;148C>A]

ENST00000553599.5:c.[111A>C;148C=]

ENST00000553599.5:c.[111A>C;149G=]

ENST00000553599.5:c.[111A>C;150A>C]

ENST00000553599.5:c.[111A>C;150A>G]

ENST00000553599.5:c.[111A>C;150A>T]

ENST00000553599.5:c.[111A>C;151C=]

ENST00000553599.5:c.[111A>C;153C>A]

ENST00000553599.5:c.[111A>C;153C>G]

ENST00000553599.5:c.[111A>C;153C>T]

ENST00000553599.5:c.[111A>C;155A=]

ENST00000553599.5:c.[111A>C;156G>A]

ENST00000553599.5:c.[111A>C;156G=]

ENST00000553599.5:c.[111A>C;158G=]

ENST00000553599.5:c.[111A>C;159T>A]

ENST00000553599.5:c.[111A>C;159T>C]

ENST00000553599.5:c.[111A>C;159T>G]

ENST00000553599.5:c.[111A>C;159T=]

ENST00000553599.5:c.[111A>C;162C>T]

ENST00000553599.5:c.[111A>C;164C=]

ENST00000553599.5:c.[111A>C;165C>A]

ENST00000553599.5:c.[111A>C;165C=]

ENST00000553599.5:c.[111A>C;165C>G]

ENST00000553599.5:c.[111A>C;165C>T]

ENST00000553599.5:c.[111A>C;166C>A]

ENST00000553599.5:c.[111A>C;166C=]

ENST00000553599.5:c.[111A>C;167G=]

ENST00000553599.5:c.[111A>C;168G>A]

ENST00000553599.5:c.[111A>C;168G>C]

ENST00000553599.5:c.[111A>C;168G>T]

ENST00000553599.5:c.[111A>C;171G>A]

ENST00000553599.5:c.[111A>C;172G=]

ENST00000553599.5:c.[111A>C;173T=]

ENST00000553599.5:c.[111A>C;174G>A]

ENST00000553599.5:c.[111A>C;174G>C]

ENST00000553599.5:c.[111A>C;174G=]

ENST00000553599.5:c.[111A>C;174G>T]

ENST00000553599.5:c.[111A>C;176T=]

ENST00000553599.5:c.[111A>C;177G>A]

ENST00000553599.5:c.[111A>C;177G>C]

ENST00000553599.5:c.[111A>C;177G=]

ENST00000553599.5:c.[111A>C;177G>T]

ENST00000553599.5:c.[111A>C;180G>A]

ENST00000553599.5:c.[111A>C;180G=]

ENST00000553599.5:c.[111A>C;182A=]

ENST00000553599.5:c.[111A>C;183A>G]

ENST00000553599.5:c.[111A>C;185A=]

ENST00000553599.5:c.[111A>C;186T>C]

ENST00000553599.5:c.[111A>C;188A=]

ENST00000553599.5:c.[111A>C;189G>A]

ENST00000553599.5:c.[111A>C;189_192delins...

ENST00000553599.5:c.[111A>C;191A=]

ENST00000553599.5:c.[111A>C;192A>G]

ENST00000553599.5:c.[111A>T;112C>A]

ENST00000553599.5:c.[111A>T;112C=]

ENST00000553599.5:c.[111A>T;113G=]

ENST00000553599.5:c.[111A>T;114G>A]

ENST00000553599.5:c.[111A>T;114G>C]

ENST00000553599.5:c.[111A>T;114G>T]

ENST00000553599.5:c.[111A>T;115A=]

ENST00000553599.5:c.[111A>T;116G=]

ENST00000553599.5:c.[111A>T;117C=]

ENST00000553599.5:c.[111A>T;117C>T]

ENST00000553599.5:c.[111A>T;118C>T;120T>A...

ENST00000553599.5:c.[111A>T;118C>T;120T>G...

ENST00000553599.5:c.[111A>T;119_135delins...

ENST00000553599.5:c.[111A>T;120T>A]

ENST00000553599.5:c.[111A>T;120T>C]

ENST00000553599.5:c.[111A>T;120T>G]

ENST00000553599.5:c.[111A>T;123C>A]

ENST00000553599.5:c.[111A>T;123C>G]

ENST00000553599.5:c.[111A>T;123C>T]

ENST00000553599.5:c.[111A>T;124C=]

ENST00000553599.5:c.[111A>T;125A=]

ENST00000553599.5:c.[111A>T;126C=]

ENST00000553599.5:c.[111A>T;126C>T]

ENST00000553599.5:c.[111A>T;128C=]

ENST00000553599.5:c.[111A>T;129T>A]

ENST00000553599.5:c.[111A>T;129T>C]

ENST00000553599.5:c.[111A>T;129T>G]

ENST00000553599.5:c.[111A>T;129T=]

ENST00000553599.5:c.[111A>T;130G=]

ENST00000553599.5:c.[111A>T;132G>A]

ENST00000553599.5:c.[111A>T;133C=]

ENST00000553599.5:c.[111A>T;135A=]

ENST00000553599.5:c.[111A>T;135A>C]

ENST00000553599.5:c.[111A>T;135A>G]

ENST00000553599.5:c.[111A>T;135A>T]

ENST00000553599.5:c.[111A>T;136T>C]

ENST00000553599.5:c.[111A>T;136T=]

ENST00000553599.5:c.[111A>T;138A>G]

ENST00000553599.5:c.[111A>T;139T=]

ENST00000553599.5:c.[111A>T;140C=]

ENST00000553599.5:c.[111A>T;141T>A]

ENST00000553599.5:c.[111A>T;141T>C]

ENST00000553599.5:c.[111A>T;141T>G]

ENST00000553599.5:c.[111A>T;142A=]

ENST00000553599.5:c.[111A>T;144T>C]

ENST00000553599.5:c.[111A>T;147A>C]

ENST00000553599.5:c.[111A>T;147A>G]

ENST00000553599.5:c.[111A>T;147A>T]

ENST00000553599.5:c.[111A>T;148C>A]

ENST00000553599.5:c.[111A>T;148C=]

ENST00000553599.5:c.[111A>T;149G=]

ENST00000553599.5:c.[111A>T;150A>C]

ENST00000553599.5:c.[111A>T;150A>G]

ENST00000553599.5:c.[111A>T;150A>T]

ENST00000553599.5:c.[111A>T;151C=]

ENST00000553599.5:c.[111A>T;153C>A]

ENST00000553599.5:c.[111A>T;153C>G]

ENST00000553599.5:c.[111A>T;153C>T]

ENST00000553599.5:c.[111A>T;155A=]

ENST00000553599.5:c.[111A>T;156G>A]

ENST00000553599.5:c.[111A>T;156G=]

ENST00000553599.5:c.[111A>T;158G=]

ENST00000553599.5:c.[111A>T;159T>A]

ENST00000553599.5:c.[111A>T;159T>C]

ENST00000553599.5:c.[111A>T;159T>G]

ENST00000553599.5:c.[111A>T;159T=]

ENST00000553599.5:c.[111A>T;162C>T]

ENST00000553599.5:c.[111A>T;164C=]

ENST00000553599.5:c.[111A>T;165C>A]

ENST00000553599.5:c.[111A>T;165C=]

ENST00000553599.5:c.[111A>T;165C>G]

ENST00000553599.5:c.[111A>T;165C>T]

ENST00000553599.5:c.[111A>T;166C>A]

ENST00000553599.5:c.[111A>T;166C=]

ENST00000553599.5:c.[111A>T;167G=]

ENST00000553599.5:c.[111A>T;168G>A]

ENST00000553599.5:c.[111A>T;168G>C]

ENST00000553599.5:c.[111A>T;168G>T]

ENST00000553599.5:c.[111A>T;171G>A]

ENST00000553599.5:c.[111A>T;172G=]

ENST00000553599.5:c.[111A>T;173T=]

ENST00000553599.5:c.[111A>T;174G>A]

ENST00000553599.5:c.[111A>T;174G>C]

ENST00000553599.5:c.[111A>T;174G=]

ENST00000553599.5:c.[111A>T;174G>T]

ENST00000553599.5:c.[111A>T;176T=]

ENST00000553599.5:c.[111A>T;177G>A]

ENST00000553599.5:c.[111A>T;177G>C]

ENST00000553599.5:c.[111A>T;177G=]

ENST00000553599.5:c.[111A>T;177G>T]

ENST00000553599.5:c.[111A>T;180G>A]

ENST00000553599.5:c.[111A>T;180G=]

ENST00000553599.5:c.[111A>T;182A=]

ENST00000553599.5:c.[111A>T;183A>G]

ENST00000553599.5:c.[111A>T;185A=]

ENST00000553599.5:c.[111A>T;186T>C]

ENST00000553599.5:c.[111A>T;188A=]

ENST00000553599.5:c.[111A>T;189G>A]

ENST00000553599.5:c.[111A>T;189_192delins...

ENST00000553599.5:c.[111A>T;191A=]

ENST00000553599.5:c.[111A>T;192A>G]