Human (GRCh38.p14)
Description

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

Gene Synonyms

MLH2, PMSL1

Location

Chromosome 2: 189,784,085-189,878,385 forward strand.

GRCh38:CM000664.2

About this gene

This gene has 48 transcripts (splice variants), 210 orthologues, 3 paralogues and is associated with 98 phenotypes.

Transcript IDNamebpProteinTranslation IDBiotypeCCDSUniProt MatchRefSeq MatchFlags
ENST00000441310.7PMS1-2133156932aaENSP00000406490.3
 
Protein coding
CCDS2302P54277-1 NM_000534.5MANE SelectEnsembl CanonicalGENCODE PrimaryGENCODE BasicAPPRIS P2TSL:1
ENST00000921115.1PMS1-2456596932aaENSP00000591174.1
 
Protein coding
CCDS2302--GENCODE BasicAPPRIS P2
ENST00000899827.1PMS1-2223908932aaENSP00000569886.1
 
Protein coding
CCDS2302--GENCODE BasicAPPRIS P2
ENST00000624204.3PMS1-2213417756aaENSP00000485312.1
 
Protein coding
CCDS74615B7ZAA0 -GENCODE BasicTSL:2
ENST00000921101.1PMS1-2313409932aaENSP00000591160.1
 
Protein coding
CCDS2302--GENCODE BasicAPPRIS P2
ENST00000921100.1PMS1-2303401891aaENSP00000591159.1
 
Protein coding
--GENCODE PrimaryGENCODE Basic
ENST00000899828.1PMS1-2233363932aaENSP00000569887.1
 
Protein coding
CCDS2302--GENCODE BasicAPPRIS P2
ENST00000921103.1PMS1-2333297932aaENSP00000591162.1
 
Protein coding
CCDS2302--GENCODE BasicAPPRIS P2
ENST00000921104.1PMS1-2343271968aaENSP00000591163.1
 
Protein coding
--GENCODE Basic
ENST00000961092.1PMS1-2483258932aaENSP00000631151.1
 
Protein coding
CCDS2302--GENCODE BasicAPPRIS P2
ENST00000899829.1PMS1-2243252932aaENSP00000569888.1
 
Protein coding
CCDS2302--GENCODE BasicAPPRIS P2
ENST00000432292.7PMS1-2123234756aaENSP00000398378.3
 
Protein coding
CCDS74615B7ZAA0 -GENCODE BasicTSL:2
ENST00000921110.1PMS1-2403192893aaENSP00000591169.1
 
Protein coding
CCDS46474--GENCODE Basic
ENST00000921105.1PMS1-2353164940aaENSP00000591164.1
 
Protein coding
--GENCODE PrimaryGENCODE Basic
ENST00000921113.1PMS1-2433153953aaENSP00000591172.1
 
Protein coding
--GENCODE Basic
ENST00000921108.1PMS1-2383142893aaENSP00000591167.1
 
Protein coding
CCDS46474--GENCODE Basic
ENST00000921111.1PMS1-2413129931aaENSP00000591170.1
 
Protein coding
--GENCODE PrimaryGENCODE BasicAPPRIS ALT1
ENST00000899832.1PMS1-2273115932aaENSP00000569891.1
 
Protein coding
CCDS2302--GENCODE BasicAPPRIS P2
ENST00000921109.1PMS1-2393081915aaENSP00000591168.1
 
Protein coding
--GENCODE PrimaryGENCODE Basic
ENST00000961091.1PMS1-2473030901aaENSP00000631150.1
 
Protein coding
--GENCODE Basic
ENST00000418224.7PMS1-2063018667aaENSP00000404492.4
 
Protein coding
Q5FBZ9 -GENCODE PrimaryGENCODE BasicTSL:5
ENST00000921107.1PMS1-2372990893aaENSP00000591166.1
 
Protein coding
CCDS46474--GENCODE Basic
ENST00000961090.1PMS1-2462919770aaENSP00000631149.1
 
Protein coding
CCDS46473--GENCODE PrimaryGENCODE Basic
ENST00000921102.1PMS1-2322906843aaENSP00000591161.1
 
Protein coding
--GENCODE Basic
ENST00000921112.1PMS1-2422828832aaENSP00000591171.1
 
Protein coding
--GENCODE PrimaryGENCODE Basic
ENST00000899834.1PMS1-2292804893aaENSP00000569893.1
 
Protein coding
CCDS46474--GENCODE Basic
ENST00000409823.7PMS1-2042795893aaENSP00000387125.3
 
Protein coding
CCDS46474P54277-3 -GENCODE BasicTSL:5
ENST00000899830.1PMS1-2252636770aaENSP00000569889.1
 
Protein coding
CCDS46473--GENCODE Basic
ENST00000899833.1PMS1-2282592770aaENSP00000569892.1
 
Protein coding
CCDS46473--GENCODE Basic
ENST00000899831.1PMS1-2262582770aaENSP00000569890.1
 
Protein coding
CCDS46473--GENCODE Basic
ENST00000447232.6PMS1-2152576770aaENSP00000401064.2
 
Protein coding
CCDS46473P54277-2 -GENCODE BasicTSL:2
ENST00000921114.1PMS1-2442560782aaENSP00000591173.1
 
Protein coding
--GENCODE Basic
ENST00000921106.1PMS1-2362468709aaENSP00000591165.1
 
Protein coding
--GENCODE Basic
ENST00000424307.5PMS1-2102153711aaENSP00000389938.1
 
Protein coding
E9PC65 -TSL:5CDS 3' incomplete
ENST00000409985.5PMS1-2051882181aaENSP00000386623.1
 
Protein coding
CCDS82544E9PC40 -GENCODE BasicTSL:2
ENST00000409593.5PMS1-2031668555aaENSP00000387169.1
 
Protein coding
P54277-4 -TSL:1CDS 5' incomplete
ENST00000618056.4PMS1-2201468248aaENSP00000480632.1
 
Protein coding
Q5FBZ4 -GENCODE BasicTSL:5
ENST00000374826.8PMS1-202948165aaENSP00000363959.4
 
Protein coding
CCDS82543Q5XG96 -GENCODE BasicTSL:1
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
ENST00000342075.8PMS1-2013012108aaENSP00000343888.4
 
Nonsense mediated decay
F8W8L1 -TSL:2
ENST00000450931.5PMS1-2172817659aaENSP00000406225.1
 
Nonsense mediated decay
Q3BDU3 -TSL:2
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