Description

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

Synonyms

AD3, FAD, PS1, S182

Location
About this transcript

This transcript has 11 exons, is associated with 394 variations and maps to 33 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

Protein domains for ENSP00000450845.1

Transcript-based displays