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 11 exons, is associated with 33855 variant alleles and maps to 796 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: 11, Coding exons: 0, Transcript length: 6,221 bps,

Transcript Support Level (TSL)

TSL:3

Version

ENST00000556066.2

Type

Retained intron

Annotation Method

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