Human (GRCh38.p14)
Description

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

Gene Synonyms

AD3, FAD, PS-1, PS1, PSNL1, S182

Location
About this transcript

This transcript has 13 exons, is annotated with 45 domains and features, is associated with 38901 variant alleles and maps to 831 oligo probes.

Transcript IDNamebpProteinTranslation IDBiotypeCCDSUniProt MatchRefSeq MatchFlags
ENST00000324501.10PSEN1-2016018467aaENSP00000326366.5
 
Protein coding
CCDS9812P49768-1 NM_000021.4MANE SelectEnsembl CanonicalGENCODE basicAPPRIS P4TSL:1
ENST00000700378.1PSEN1-2656396467aaENSP00000514968.1
 
Protein coding
CCDS9812P49768-1 -GENCODE basicAPPRIS P4
ENST00000700269.1PSEN1-2336116467aaENSP00000514905.1
 
Protein coding
CCDS9812P49768-1 -GENCODE basicAPPRIS P4
ENST00000553599.6PSEN1-2076099463aaENSP00000452477.2
 
Protein coding
CCDS9813P49768-2 -GENCODE basicAPPRIS ALT1TSL:4
ENST00000700273.1PSEN1-2376091463aaENSP00000514908.1
 
Protein coding
CCDS9813P49768-2 -GENCODE basicAPPRIS ALT1
ENST00000700306.1PSEN1-2426089467aaENSP00000514933.1
 
Protein coding
CCDS9812P49768-1 -GENCODE basicAPPRIS P4
ENST00000700268.1PSEN1-2326076467aaENSP00000514904.1
 
Protein coding
CCDS9812P49768-1 -GENCODE basicAPPRIS P4
ENST00000700375.1PSEN1-2626075467aaENSP00000514966.1
 
Protein coding
CCDS9812P49768-1 -GENCODE basicAPPRIS P4
ENST00000554131.6PSEN1-2096064467aaENSP00000451915.2
 
Protein coding
CCDS9812P49768-1 -GENCODE basicAPPRIS P4TSL:3
ENST00000556951.6PSEN1-2186062463aaENSP00000450551.2
 
Protein coding
CCDS9813P49768-2 -GENCODE basicAPPRIS ALT1TSL:2
ENST00000700323.1PSEN1-2596056467aaENSP00000514950.1
 
Protein coding
CCDS9812P49768-1 -GENCODE basicAPPRIS P4
ENST00000700320.1PSEN1-2566034476aaENSP00000514947.1
 
Protein coding
A0A8V8TQ36 -GENCODE basic
ENST00000700313.1PSEN1-2496032463aaENSP00000514940.1
 
Protein coding
CCDS9813P49768-2 -GENCODE basicAPPRIS ALT1
ENST00000700321.1PSEN1-2576014467aaENSP00000514948.1
 
Protein coding
CCDS9812P49768-1 -GENCODE basicAPPRIS P4
ENST00000700324.1PSEN1-2606013463aaENSP00000514951.1
 
Protein coding
CCDS9813P49768-2 -GENCODE basicAPPRIS ALT1
ENST00000700317.1PSEN1-2535975467aaENSP00000514944.1
 
Protein coding
CCDS9812P49768-1 -GENCODE basicAPPRIS P4
ENST00000700322.1PSEN1-2585961463aaENSP00000514949.1
 
Protein coding
CCDS9813P49768-2 -GENCODE basicAPPRIS ALT1
ENST00000700267.1PSEN1-2315957467aaENSP00000514903.1
 
Protein coding
CCDS9812P49768-1 -GENCODE basicAPPRIS P4
ENST00000557293.6PSEN1-2205953427aaENSP00000451880.2
 
Protein coding
G3V4M0 -GENCODE basicTSL:2
ENST00000700307.1PSEN1-2435935434aaENSP00000514934.1
 
Protein coding
A0A8V8TPK5 -GENCODE basic
ENST00000700265.1PSEN1-2295911463aaENSP00000514901.1
 
Protein coding
CCDS9813P49768-2 -GENCODE basicAPPRIS ALT1
ENST00000700312.1PSEN1-2485907384aaENSP00000514939.1
 
Protein coding
A0A8V8TPL0 -GENCODE basic
ENST00000700271.1PSEN1-2355874405aaENSP00000514906.1
 
Protein coding
A0A8V8TQT3 -GENCODE basic
ENST00000700469.1PSEN1-2885791463aaENSP00000515002.1
 
Protein coding
CCDS9813P49768-2 -GENCODE basicAPPRIS ALT1
ENST00000700437.1PSEN1-2855789384aaENSP00000514988.1
 
Protein coding
A0A8V8TPL0 -GENCODE basic
ENST00000700468.1PSEN1-2875654430aaENSP00000515001.1
 
Protein coding
A0A8V8TQ90 -GENCODE basic
ENST00000394164.5PSEN1-2043046463aaENSP00000377719.1
 
Protein coding
CCDS9813P49768-2 -GENCODE basicAPPRIS ALT1TSL:1
ENST00000700389.1PSEN1-2683019463aaENSP00000514970.1
 
Protein coding
CCDS9813P49768-2 -GENCODE basicAPPRIS ALT1
ENST00000357710.8PSEN1-2022776463aaENSP00000350342.4
 
Protein coding
CCDS9813P49768-2 -GENCODE basicAPPRIS ALT1TSL:1
ENST00000394157.7PSEN1-2031249184aaENSP00000377712.3
 
Protein coding
P49768-4 -GENCODE basicTSL:2
ENST00000557511.5PSEN1-2221230409aaENSP00000451429.1
 
Protein coding
P49768-6 -GENCODE basicTSL:5
ENST00000700431.1PSEN1-2791100180aaENSP00000514986.1
 
Protein coding
A0A8V8TQ93 -GENCODE basic
ENST00000555254.5PSEN1-211754155aaENSP00000450652.1
 
Protein coding
G3V2G7 -TSL:3CDS 3' incomplete
ENST00000560005.6PSEN1-224699109aaENSP00000453466.1
 
Protein coding
H0YM52 -TSL:3CDS 3' incomplete
ENST00000556864.5PSEN1-21757463aaENSP00000451588.1
 
Protein coding
G3V449 -TSL:5CDS 3' incomplete
ENST00000557356.5PSEN1-221571135aaENSP00000451498.1
 
Protein coding
G3V3Z0 -TSL:4CDS 3' incomplete
ENST00000557037.5PSEN1-21955562aaENSP00000451347.1
 
Protein coding
G3V3P0 -TSL:4CDS 3' incomplete
ENST00000556533.5PSEN1-21655092aaENSP00000452128.1
 
Protein coding
G3V519 -TSL:5CDS 3' incomplete
ENST00000700377.1PSEN1-2646507215aaENSP00000514967.1
 
Nonsense mediated decay
A0A8V8TQ54 --
ENST00000700266.1PSEN1-230641337aaENSP00000514902.1
 
Nonsense mediated decay
A0A8V8TQU9 --
ENST00000697912.1PSEN1-2256388379aaENSP00000513477.1
 
Nonsense mediated decay
A0A8V8TLT5 --
ENST00000700309.1PSEN1-245623037aaENSP00000514936.1
 
Nonsense mediated decay
A0A8V8TQU9 --
ENST00000700272.1PSEN1-236618961aaENSP00000514907.1
 
Nonsense mediated decay
G3V490 --
ENST00000700304.1PSEN1-240618361aaENSP00000514931.1
 
Nonsense mediated decay
G3V490 --
ENST00000700305.1PSEN1-2416163183aaENSP00000514932.1
 
Nonsense mediated decay
A0A8V8TR50 --
ENST00000700308.1PSEN1-244614557aaENSP00000514935.1
 
Nonsense mediated decay
H0YNU4 --
ENST00000700315.1PSEN1-2516129187aaENSP00000514942.1
 
Nonsense mediated decay
A0A8V8TQV2 --
ENST00000559361.6PSEN1-223611057aaENSP00000454156.1
 
Nonsense mediated decay
H0YNU4 -TSL:5
ENST00000700302.1PSEN1-2386101408aaENSP00000514929.1
 
Nonsense mediated decay
A0A8V8TR52 --
ENST00000700316.1PSEN1-2526099103aaENSP00000514943.1
 
Nonsense mediated decay
A0A8V8TQ58 --
ENST00000700314.1PSEN1-250609348aaENSP00000514941.1
 
Nonsense mediated decay
A0A8V8TQ30 --
ENST00000700311.1PSEN1-2476088408aaENSP00000514938.1
 
Nonsense mediated decay
A0A8V8TR52 --
ENST00000700303.1PSEN1-2396074116aaENSP00000514930.1
 
Nonsense mediated decay
A0A8V8TQU7 --
ENST00000700318.1PSEN1-2546032120aaENSP00000514945.1
 
Nonsense mediated decay
A0A8V8TR55 --
ENST00000700310.1PSEN1-2465985341aaENSP00000514937.1
 
Nonsense mediated decay
A0A8V8TQ53 --
ENST00000700319.1PSEN1-2555939163aaENSP00000514946.1
 
Nonsense mediated decay
A0A8V8TPL5 --
ENST00000700436.1PSEN1-2845857378aaENSP00000514987.1
 
Nonsense mediated decay
P49768-5 --
ENST00000555386.6PSEN1-2121752374aaENSP00000450845.1
 
Nonsense mediated decay
P49768-3 -TSL:1
ENST00000553855.5PSEN1-2081254378aaENSP00000452242.1
 
Nonsense mediated decay
P49768-5 -TSL:1
ENST00000700430.1PSEN1-278121061aaENSP00000514985.1
 
Nonsense mediated decay
G3V490 --
ENST00000556011.6PSEN1-21492461aaENSP00000451662.2
 
Nonsense mediated decay
G3V490 -TSL:5
ENST00000553447.7PSEN1-20687757aaENSP00000514869.1
 
Nonsense mediated decay
H0YNU4 -TSL:4
ENST00000700379.1PSEN1-2666198No protein-
 
Protein coding CDS not defined
---
ENST00000700408.1PSEN1-2752215No protein-
 
Protein coding CDS not defined
---
ENST00000700409.1PSEN1-2762203No protein-
 
Protein coding CDS not defined
---
ENST00000700391.1PSEN1-2701728No protein-
 
Protein coding CDS not defined
---
ENST00000700410.1PSEN1-2771484No protein-
 
Protein coding CDS not defined
---
ENST00000700435.1PSEN1-2831417No protein-
 
Protein coding CDS not defined
---
ENST00000700405.1PSEN1-2721370No protein-
 
Protein coding CDS not defined
---
ENST00000700406.1PSEN1-2731359No protein-
 
Protein coding CDS not defined
---
ENST00000700374.1PSEN1-2611289No protein-
 
Protein coding CDS not defined
---
ENST00000697913.1PSEN1-22611342No protein-
 
Retained intron
---
ENST00000700390.1PSEN1-2697511No protein-
 
Retained intron
---
ENST00000700404.1PSEN1-2716629No protein-
 
Retained intron
---
ENST00000554995.2PSEN1-2106545No protein-
 
Retained intron
--TSL:2
ENST00000556066.2PSEN1-2156221No protein-
 
Retained intron
--TSL:3
ENST00000697915.1PSEN1-2285149No protein-
 
Retained intron
---
ENST00000406768.1PSEN1-2054062No protein-
 
Retained intron
--TSL:2
ENST00000700407.1PSEN1-2742226No protein-
 
Retained intron
---
ENST00000700467.1PSEN1-2862077No protein-
 
Retained intron
---
ENST00000700270.1PSEN1-2341994No protein-
 
Retained intron
---
ENST00000700432.1PSEN1-2801841No protein-
 
Retained intron
---
ENST00000700376.1PSEN1-2631621No protein-
 
Retained intron
---
ENST00000700434.1PSEN1-2821620No protein-
 
Retained intron
---
ENST00000700433.1PSEN1-2811584No protein-
 
Retained intron
---
ENST00000697914.1PSEN1-2271426No protein-
 
Retained intron
---
ENST00000700388.1PSEN1-2671152No protein-
 
Retained intron
---
ENST00000555867.1PSEN1-213876No protein-
 
Retained intron
--TSL:2
Statistics

Exons: 13, Coding exons: 10, Transcript length: 6,064 bps, Translation length: 467 residues

Uniprot

This transcript corresponds to the following Uniprot identifiers: P49768

CCDS

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

Transcript Support Level (TSL)

TSL:3

Version

ENST00000554131.6

Type

Protein coding

Annotation Method

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

GENCODE basic gene

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