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Human (GRCh38.p14)
Description

PMS1 homolog 1, mismatch repair system component [Source:HGNC Symbol;Acc:HGNC:9121]

Gene Synonyms

MLH2, PMSL1

About this transcript

This transcript has 12 exons, is annotated with 21 domains and features, is associated with 40774 variant alleles and maps to 468 oligo probes.

Transcript IDNamebpProteinTranslation IDBiotypeCCDSUniProt MatchRefSeq MatchFlags
ENST00000441310.7PMS1-2133156932aaENSP00000406490.3
 
Protein coding
CCDS2302P54277-1 NM_000534.5MANE SelectEnsembl CanonicalGENCODE PrimaryGENCODE BasicAPPRIS P4TSL:1
ENST00001144637.1PMS1-2754277932aaENSP00000813006.1
 
Protein coding
CCDS2302--Ensembl Canonical ExtendedGENCODE BasicAPPRIS P4
ENST00000921115.2PMS1-2457358932aaENSP00000591174.1
 
Protein coding
CCDS2302--GENCODE BasicAPPRIS P4
ENST00000921103.2PMS1-2334403932aaENSP00000591162.1
 
Protein coding
CCDS2302--GENCODE BasicAPPRIS P4
ENST00000921104.2PMS1-2344385968aaENSP00000591163.1
 
Protein coding
--GENCODE Basic
ENST00000921105.2PMS1-2354301940aaENSP00000591164.1
 
Protein coding
--GENCODE Basic
ENST00000921108.2PMS1-2384286893aaENSP00000591167.1
 
Protein coding
CCDS46474--GENCODE Basic
ENST00000921111.2PMS1-2414274931aaENSP00000591170.1
 
Protein coding
--GENCODE BasicAPPRIS ALT1
ENST00001089000.1PMS1-2644274931aaENSP00000758806.1
 
Protein coding
--GENCODE Basic
ENST00000921109.2PMS1-2394226915aaENSP00000591168.1
 
Protein coding
--GENCODE Basic
ENST00000961091.2PMS1-2474184901aaENSP00000631150.1
 
Protein coding
--GENCODE PrimaryGENCODE Basic
ENST00000624204.4PMS1-2214174756aaENSP00000485312.1
 
Protein coding
CCDS74615B7ZAA0 -GENCODE BasicTSL:2
ENST00000921101.2PMS1-2314168932aaENSP00000591160.1
 
Protein coding
CCDS2302--GENCODE BasicAPPRIS P4
ENST00000921100.2PMS1-2304154891aaENSP00000591159.1
 
Protein coding
--GENCODE PrimaryGENCODE Basic
ENST00000899828.2PMS1-2234122932aaENSP00000569887.1
 
Protein coding
CCDS2302--GENCODE BasicAPPRIS P4
ENST00000899829.2PMS1-2244034932aaENSP00000569888.1
 
Protein coding
CCDS2302--GENCODE BasicAPPRIS P4
ENST00000961092.2PMS1-2484015932aaENSP00000631151.1
 
Protein coding
CCDS2302--GENCODE BasicAPPRIS P4
ENST00000921102.2PMS1-2324010843aaENSP00000591161.1
 
Protein coding
--GENCODE Basic
ENST00000921110.2PMS1-2404005893aaENSP00000591169.1
 
Protein coding
CCDS46474--GENCODE Basic
ENST00000432292.8PMS1-2123991756aaENSP00000398378.3
 
Protein coding
CCDS74615B7ZAA0 -GENCODE BasicTSL:2
ENST00000921112.2PMS1-2423977832aaENSP00000591171.1
 
Protein coding
--GENCODE PrimaryGENCODE Basic
ENST00000921113.2PMS1-2433971953aaENSP00000591172.1
 
Protein coding
--GENCODE Basic
ENST00000899827.1PMS1-2223908932aaENSP00000569886.1
 
Protein coding
CCDS2302--GENCODE BasicAPPRIS P4
ENST00000899832.2PMS1-2273889932aaENSP00000569891.1
 
Protein coding
CCDS2302--GENCODE BasicAPPRIS P4
ENST00000921114.2PMS1-2443827782aaENSP00000591173.1
 
Protein coding
--GENCODE Basic
ENST00000447232.7PMS1-2153791770aaENSP00000401064.2
 
Protein coding
CCDS46473P54277-2 -GENCODE PrimaryGENCODE BasicTSL:2
ENST00000921107.2PMS1-2373791893aaENSP00000591166.1
 
Protein coding
CCDS46474--GENCODE Basic
ENST00000899834.2PMS1-2293772893aaENSP00000569893.1
 
Protein coding
CCDS46474--GENCODE Basic
ENST00000961090.2PMS1-2463682770aaENSP00000631149.1
 
Protein coding
CCDS46473--GENCODE Basic
ENST00000899833.2PMS1-2283636770aaENSP00000569892.1
 
Protein coding
CCDS46473--GENCODE Basic
ENST00000921106.2PMS1-2363608709aaENSP00000591165.1
 
Protein coding
--GENCODE Basic
ENST00000899831.2PMS1-2263422770aaENSP00000569890.1
 
Protein coding
CCDS46473--GENCODE Basic
ENST00000899830.2PMS1-2253403770aaENSP00000569889.1
 
Protein coding
CCDS46473--GENCODE Basic
ENST00000418224.7PMS1-2063018667aaENSP00000404492.4
 
Protein coding
Q5FBZ9 -GENCODE BasicTSL:5
ENST00000409823.7PMS1-2042795893aaENSP00000387125.3
 
Protein coding
CCDS46474P54277-3 -GENCODE BasicTSL:5
ENST00000409985.6PMS1-2052247181aaENSP00000386623.1
 
Protein coding
CCDS82544E9PC40 -GENCODE BasicTSL:2
ENST00000618056.5PMS1-2202225248aaENSP00000480632.1
 
Protein coding
Q5FBZ4 -GENCODE BasicTSL:5
ENST00000424307.5PMS1-2102153711aaENSP00000389938.1
 
Protein coding
E9PC65 -TSL:5CDS 3' incomplete
ENST00001089008.1PMS1-2722064120aaENSP00000758814.1
 
Protein coding
--GENCODE PrimaryGENCODE Basic
ENST00000409593.5PMS1-2031668555aaENSP00000387169.1
 
Protein coding
P54277-4 -TSL:1CDS 5' incomplete
ENST00000374826.9PMS1-2021371165aaENSP00000363959.4
 
Protein coding
CCDS82543Q5XG96 -GENCODE BasicTSL:1
ENST00001130986.1PMS1-2741334221aaENSP00000800791.1
 
Protein coding
--GENCODE Basic
ENST00001037954.1PMS1-2621207165aaENSP00000707771.1
 
Protein coding
CCDS82543--GENCODE Basic
ENST00000452382.1PMS1-218881266aaENSP00000396232.1
 
Protein coding
E9PH88 -TSL:5CDS 3' incomplete
ENST00000424766.5PMS1-211831194aaENSP00000410082.1
 
Protein coding
C9JF76 -TSL:3CDS 3' incomplete
ENST00000446877.5PMS1-21456044aaENSP00000413837.1
 
Protein coding
C9JKP0 -TSL:4CDS 3' incomplete
ENST00000420421.1PMS1-20733173aaENSP00000391136.1
 
Protein coding
C9J4L1 -TSL:3CDS 3' incomplete
ENST00001088999.1PMS1-2633259701aaENSP00000758805.1
 
Nonsense mediated decay
---
ENST00001037952.1PMS1-2603158805aaENSP00000707769.1
 
Nonsense mediated decay
---
ENST00001089003.1PMS1-2673156112aaENSP00000758809.1
 
Nonsense mediated decay
---
ENST00001089002.1PMS1-2663148217aaENSP00000758808.1
 
Nonsense mediated decay
---
ENST00001037949.1PMS1-2573089784aaENSP00000707766.1
 
Nonsense mediated decay
---
ENST00001089006.1PMS1-2703080217aaENSP00000758812.1
 
Nonsense mediated decay
---
ENST00001089001.1PMS1-2653021748aaENSP00000758807.1
 
Nonsense mediated decay
---
ENST00001037946.1PMS1-2553017785aaENSP00000707763.1
 
Nonsense mediated decay
---
ENST00000342075.8PMS1-2013012108aaENSP00000343888.4
 
Nonsense mediated decay
F8W8L1 -TSL:2
ENST00001037951.1PMS1-2592997745aaENSP00000707768.1
 
Nonsense mediated decay
---
ENST00001003562.1PMS1-2492993108aaENSP00000673379.1
 
Nonsense mediated decay
---
ENST00001037950.1PMS1-2582950785aaENSP00000707767.1
 
Nonsense mediated decay
---
ENST00001089005.1PMS1-2692881698aaENSP00000758811.1
 
Nonsense mediated decay
---
ENST00001003563.1PMS1-2502865698aaENSP00000673380.1
 
Nonsense mediated decay
---
ENST00001089004.1PMS1-2682852698aaENSP00000758810.1
 
Nonsense mediated decay
---
ENST00000450931.5PMS1-2172817659aaENSP00000406225.1
 
Nonsense mediated decay
Q3BDU3 -TSL:2
ENST00001003564.1PMS1-2512768695aaENSP00000673381.1
 
Nonsense mediated decay
---
ENST00001089007.1PMS1-2712719706aaENSP00000758813.1
 
Nonsense mediated decay
---
ENST00001037947.1PMS1-2562501623aaENSP00000707764.1
 
Nonsense mediated decay
---
ENST00001003567.1PMS1-2542375162aaENSP00000673384.1
 
Nonsense mediated decay
---
ENST00001003565.1PMS1-252190161aaENSP00000673382.1
 
Nonsense mediated decay
---
ENST00001089009.1PMS1-273189959aaENSP00000758815.1
 
Nonsense mediated decay
---
ENST00001003566.1PMS1-2531813244aaENSP00000673383.1
 
Nonsense mediated decay
---
ENST00001037953.1PMS1-2611620174aaENSP00000707770.1
 
Nonsense mediated decay
---
ENST00000447734.5PMS1-21657047aaENSP00000411151.1
 
Nonsense mediated decay
Q5FBZ7 -TSL:5
ENST00000421722.5PMS1-2082285No protein-
 
Protein coding CDS not defined
--TSL:2
ENST00000424059.1PMS1-2092004No protein-
 
Protein coding CDS not defined
--TSL:1
ENST00000483293.1PMS1-219663No protein-
 
Protein coding CDS not defined
--TSL:5
Statistics

Exons: 12, Coding exons: 11, Transcript length: 3,791 bps, Translation length: 770 residues

Uniprot

This transcript corresponds to the following Uniprot identifiers: P54277

CCDS

This transcript is a member of the Human CCDS set: CCDS46473

Transcript Support Level (TSL)

TSL:2

Version

ENST00000447232.7

Type

Protein coding

Annotation Method

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

GENCODE basic gene

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

GENCODE primary gene

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