Human (GRCh38.p14)
Description

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

Gene Synonyms

MLH2, PMSL1

Location

Chromosome 2: 189,784,085-189,877,629 forward strand.

GRCh38:CM000664.2

About this gene

This gene has 21 transcripts (splice variants), 209 orthologues, 3 paralogues and is associated with 62 phenotypes.

Transcript IDNamebpProteinTranslation IDBiotypeCCDSUniProt MatchRefSeq MatchFlags
ENST00000441310.7PMS1-2133156932aaENSP00000406490.3
 
Protein coding
CCDS2302P54277-1 NM_000534.5MANE SelectEnsembl CanonicalGENCODE basicAPPRIS P1TSL:1
ENST00000624204.3PMS1-2213417756aaENSP00000485312.1
 
Protein coding
CCDS74615B7ZAA0 -GENCODE basicTSL:2
ENST00000432292.7PMS1-2123234756aaENSP00000398378.3
 
Protein coding
CCDS74615B7ZAA0 -GENCODE basicTSL:2
ENST00000418224.7PMS1-2063018667aaENSP00000404492.4
 
Protein coding
Q5FBZ9 -GENCODE basicTSL:5
ENST00000409823.7PMS1-2042795893aaENSP00000387125.3
 
Protein coding
CCDS46474P54277-3 -GENCODE basicTSL:5
ENST00000447232.6PMS1-2152576770aaENSP00000401064.2
 
Protein coding
CCDS46473P54277-2 -GENCODE basicTSL:2
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