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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

Location

Chromosome 2: 189,784,062-189,878,385 forward strand.

GRCh38:CM000664.2

About this gene

This gene has 75 transcripts (splice variants), 210 orthologues, 3 paralogues and is associated with 97 phenotypes.

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