Description

presenilin 1 [Source:HGNC Symbol;Acc:HGNC:9508]

Synonyms

AD3, FAD, PS1, S182

Location
Gene

This transcript is a product of gene ENSG00000080815

This gene has 25 transcripts (splice variants) Show transcript tableHide transcript table

NameTranscript IDLengthProteinBiotypeCCDSUniProtRefSeqFlags
PSEN1-001ENST000003245016078 bp467 aa (view)
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
CCDS9812E7ES96 G3V2G7 G3V4M0
G3V4P4 P49768
NM_000021
NP_000012
GENCODE basicThe GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).
PSEN1-003ENST000003941643046 bp463 aa (view)
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
CCDS9813E7ES96 G3V2B1 G3V3P0
G3V3Z0 G3V449 G3V499
G3V519 G3V5B1 H0YM52
P49768
-GENCODE basicThe GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).
PSEN1-002ENST000003577102776 bp463 aa (view)
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
CCDS9813E7ES96 G3V2B1 G3V3P0
G3V3Z0 G3V449 G3V499
G3V519 G3V5B1 H0YM52
P49768
NM_007318
NP_015557
GENCODE basicThe GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).
PSEN1-005ENST000004067684062 bp375 aa (view)
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
-E7ES96 -GENCODE basicThe GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).
PSEN1-004ENST000003941571249 bp184 aa (view)
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
-G3V2G7 G3V4M0 G3V4P4
P49768
-GENCODE basicThe GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).
PSEN1-027ENST000005575111230 bp409 aa (view)
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
-G3V2G7 G3V4M0 G3V4P4
P49768
-GENCODE basicThe GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).
PSEN1-021ENST00000555254754 bp155 aa (view)
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
-G3V2G7 G3V4M0 G3V4P4
-CDS 3' incomplete3' truncation in transcript evidence prevents annotation of the end of the CDS.
PSEN1-016ENST00000553719712 bp147 aa (view)
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
-G3V2B1 G3V3P0 G3V3Z0
G3V449 G3V499 G3V519
G3V5B1 H0YM52
-CDS 3' incomplete3' truncation in transcript evidence prevents annotation of the end of the CDS.
PSEN1-028ENST00000560005699 bp109 aa (view)
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
-G3V2B1 G3V3P0 G3V449
G3V519 G3V5B1 H0YM52
-CDS 3' incomplete3' truncation in transcript evidence prevents annotation of the end of the CDS.
PSEN1-011ENST00000556066612 bp58 aa (view)
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
-G3V5B1 -CDS 3' incomplete3' truncation in transcript evidence prevents annotation of the end of the CDS.
PSEN1-012ENST00000553599591 bp92 aa (view)
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
-G3V2B1 G3V3P0 G3V449
G3V519 G3V5B1
-CDS 3' incomplete3' truncation in transcript evidence prevents annotation of the end of the CDS.
PSEN1-020ENST00000554131591 bp109 aa (view)
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
-G3V4M0 G3V4P4 -CDS 3' incomplete3' truncation in transcript evidence prevents annotation of the end of the CDS.
PSEN1-015ENST00000557293576 bp99 aa (view)
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
-G3V4M0 -CDS 3' incomplete3' truncation in transcript evidence prevents annotation of the end of the CDS.
PSEN1-007ENST00000556864574 bp63 aa (view)
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
-G3V3P0 G3V449 G3V5B1
-CDS 3' incomplete3' truncation in transcript evidence prevents annotation of the end of the CDS.
PSEN1-013ENST00000557356571 bp135 aa (view)
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
-G3V2B1 G3V3P0 G3V3Z0
G3V449 G3V519 G3V5B1
H0YM52
-CDS 3' incomplete3' truncation in transcript evidence prevents annotation of the end of the CDS.
PSEN1-008ENST00000557037555 bp62 aa (view)
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
-G3V3P0 G3V5B1 -CDS 3' incomplete3' truncation in transcript evidence prevents annotation of the end of the CDS.
PSEN1-014ENST00000556951552 bp91 aa (view)
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
-G3V2B1 G3V3P0 G3V449
G3V5B1
-CDS 3' incomplete3' truncation in transcript evidence prevents annotation of the end of the CDS.
PSEN1-009ENST00000556533550 bp92 aa (view)
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
-G3V2B1 G3V3P0 G3V449
G3V519 G3V5B1
-CDS 3' incomplete3' truncation in transcript evidence prevents annotation of the end of the CDS.
PSEN1-026ENST00000556011442 bp43 aa (view)
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
-G3V490 -CDS 3' incomplete3' truncation in transcript evidence prevents annotation of the end of the CDS.
PSEN1-006ENST000005553861484 bp374 aa (view)
 
Nonsense mediated decayTranscript is thought to undergo nonsense mediated decay, a process which detects nonsense mutations and prevents the expression of truncated or erroneous proteins.
-G3V2B1 G3V3P0 G3V3Z0
G3V449 G3V499 G3V519
G3V5B1 H0YM52 P49768
-
PSEN1-024ENST000005538551254 bp378 aa (view)
 
Nonsense mediated decayTranscript is thought to undergo nonsense mediated decay, a process which detects nonsense mutations and prevents the expression of truncated or erroneous proteins.
-G3V2G7 G3V4M0 G3V4P4
P49768
-
PSEN1-029ENST00000559361795 bp57 aa (view)
 
Nonsense mediated decayTranscript is thought to undergo nonsense mediated decay, a process which detects nonsense mutations and prevents the expression of truncated or erroneous proteins.
-H0YNU4 -
PSEN1-019ENST00000553447572 bp No protein product
 
Processed transcriptTranscripts that don't contain an open reading frame (ORF) and cannot be placed in one of the other categories.
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PSEN1-022ENST00000555867876 bp No protein product
 
Retained intronAlternatively spliced transcript that is believed to contain intronic sequence relative to other coding transcripts in a given locus.
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PSEN1-023ENST00000554995592 bp No protein product
 
Retained intronAlternatively spliced transcript that is believed to contain intronic sequence relative to other coding transcripts in a given locus.
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Statistics

Exons: 12 Coding exons: 10 Transcript length: 6,078 bps Translation length: 467 residues

CCDS

This transcript is a member of the Human CCDS set: CCDS9812

Uniprot

This transcript corresponds to the following Uniprot identifiers: P49768

Ensembl version

ENST00000324501.6

Type

Known protein coding

Prediction Method

Transcript where the Ensembl genebuild transcript and the Vega manual annotation have the same sequence, for every base pair. See article.

Alternative transcripts

This transcript corresponds to the following database identifiers:

Havana transcript:
GENCODE basic gene

This transcript is a member of the Gencode basic gene set.

Transcript-based displays