Description

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

Synonyms

AD3, FAD, PS1, S182

Location
About this transcript

This transcript has 12 exons, is annotated with 25 domains and features, is associated with 487 variations and maps to 47 oligo probes.

Gene
NameTranscript IDbpProteinTranslation IDBiotypeCCDSUniProtRefSeqFlags
PSEN1-001ENST000003245016078467aaENSP00000326366
 
Protein coding
CCDS9812A0A024R6A3 P49768 NM_000021
NP_000012
TSL:1GENCODE basicAPPRIS P4
PSEN1-003ENST000003941643046463aaENSP00000377719
 
Protein coding
CCDS9813P49768 -TSL:1GENCODE basicAPPRIS ALT1
PSEN1-002ENST000003577102776463aaENSP00000350342
 
Protein coding
CCDS9813P49768 NM_007318
NP_015557
TSL:1GENCODE basicAPPRIS ALT1
PSEN1-005ENST000004067684062375aaENSP00000385948
 
Protein coding
-E7ES96 -TSL:2GENCODE basic
PSEN1-004ENST000003941571249184aaENSP00000377712
 
Protein coding
-P49768 -TSL:2GENCODE basic
PSEN1-027ENST000005575111230409aaENSP00000451429
 
Protein coding
-P49768 -TSL:5GENCODE basic
PSEN1-021ENST00000555254754155aaENSP00000450652
 
Protein coding
-G3V2G7 -CDS 3' incompleteTSL:3
PSEN1-016ENST00000553719712147aaENSP00000451674
 
Protein coding
-G3V499 -CDS 3' incompleteTSL:2
PSEN1-028ENST00000560005699109aaENSP00000453466
 
Protein coding
-H0YM52 -CDS 3' incompleteTSL:3
PSEN1-011ENST0000055606661258aaENSP00000452267
 
Protein coding
-G3V5B1 -CDS 3' incompleteTSL:3
PSEN1-012ENST0000055359959192aaENSP00000452477
 
Protein coding
-G3V2B1 -CDS 3' incompleteTSL:4
PSEN1-020ENST00000554131591109aaENSP00000451915
 
Protein coding
-G3V4P4 -CDS 3' incompleteTSL:3
PSEN1-015ENST0000055729357699aaENSP00000451880
 
Protein coding
-G3V4M0 -CDS 3' incompleteTSL:2
PSEN1-007ENST0000055686457463aaENSP00000451588
 
Protein coding
-G3V449 -CDS 3' incompleteTSL:5
PSEN1-013ENST00000557356571135aaENSP00000451498
 
Protein coding
-G3V3Z0 -CDS 3' incompleteTSL:4
PSEN1-008ENST0000055703755562aaENSP00000451347
 
Protein coding
-G3V3P0 -CDS 3' incompleteTSL:4
PSEN1-014ENST0000055695155291aaENSP00000450551
 
Protein coding
-G3V2B1 -CDS 3' incompleteTSL:2
PSEN1-009ENST0000055653355092aaENSP00000452128
 
Protein coding
-G3V519 -CDS 3' incompleteTSL:5
PSEN1-026ENST0000055601144243aaENSP00000451662
 
Protein coding
-G3V490 -CDS 3' incompleteTSL:5
PSEN1-006ENST000005553861484374aaENSP00000450845
 
Nonsense mediated decay
-P49768 -TSL:1
PSEN1-024ENST000005538551254378aaENSP00000452242
 
Nonsense mediated decay
-P49768 -TSL:1
PSEN1-029ENST0000055936179557aaENSP00000454156
 
Nonsense mediated decay
-H0YNU4 -TSL:5
PSEN1-019ENST00000553447572No protein-
 
Processed transcript
---TSL:4
PSEN1-022ENST00000555867876No protein-
 
Retained intron
---TSL:2
PSEN1-023ENST00000554995592No protein-
 
Retained intron
---TSL:2
Statistics

Exons: 12 Coding exons: 10 Transcript length: 2,776 bps Translation length: 463 residues

CCDS

This transcript is a member of the Human CCDS set: CCDS9813

Uniprot

This transcript corresponds to the following Uniprot identifiers: P49768

Transcript Support Level (TSL)

TSL:1

Ensembl version

ENST00000357710.8

Type

Known protein coding

Annotation Method

Manual annotation (determined on a case-by-case basis) from the Havana project.

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