Description
mutL homolog 1 [Source:HGNC Symbol;Acc:7127]
Gene Synonyms
COCA2, FCC2, HNPCC, HNPCC2, hMLH1
Location
Chromosome 3: 37,034,823-37,107,380 forward strand.
GRCh37:CM000665.1
About this gene
This gene has 22 transcripts (splice variants) and is associated with 94 phenotypes.
Transcripts
| Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
|---|---|---|---|---|---|---|---|---|---|
| ENST00000231790.2 | MLH1-001 | 2752 | 756aa | ENSP00000231790.2 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS2663 | A8W2I7 B7Z821 C4PFY8 E7EUC9 F2Z298 P40692 Q5GJ64 | NM_001258273.1 | A single transcript chosen for a gene which is the most conserved, most highly expressed, has the longest coding sequence and is represented in other key resources, such as NCBI and UniProt. This is defined in detail on http://www.ensembl.org/info/genome/genebuild/canonical.htmlEnsembl Canonical, A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, |
| ENST00000458205.2 | MLH1-004 | 2608 | 515aa | ENSP00000402667.2 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS54563 | A8W2I7 B7Z821 C4PFY8 E7EUC9 P40692 | NM_001258274.1 | A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, |
| ENST00000435176.1 | MLH1-006 | 2428 | 658aa | ENSP00000402564.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS54562 | A8W2I7 B7Z821 C4PFY8 C9JZ54 E7EUC9 P40692 | NM_001167618.1 | A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, |
| ENST00000539477.1 | MLH1-202 | 2366 | 515aa | ENSP00000443665.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS54563 | A8W2I7 B7Z821 C4PFY8 E7EUC9 P40692 | NM_001167619.1 | A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, |
| ENST00000536378.1 | MLH1-201 | 2303 | 460aa | ENSP00000444286.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | A8W2I7 B7Z821 C4PFY8 E7EUC9 | - | A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, | |
| ENST00000455445.2 | MLH1-005 | 2296 | 515aa | ENSP00000398272.2 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS54563 | A8W2I7 B7Z821 C4PFY8 E7EUC9 P40692 | - | A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, |
| ENST00000456676.2 | MLH1-003 | 2230 | 679aa | ENSP00000416687.2 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | A8W2I7 C4PFY8 E7EUC9 | NM_001258271.1 | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete, | |
| ENST00000441265.1 | MLH1-020 | 917 | 105aa | ENSP00000398392.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | E7EUC9 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000429117.1 | MLH1-016 | 562 | 83aa | ENSP00000407019.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | C9JZ54 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000413740.1 | MLH1-011 | 342 | 114aa | ENSP00000416476.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | C4PFY8 H0Y806 | - | 5' and 3' truncations in transcript evidence prevent annotation of the start and the end of the CDS.CDS 5' and 3' incomplete, | |
| ENST00000450420.1 | MLH1-010 | 233 | 61aa | ENSP00000393006.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | H0Y4N0 | - | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete, | |
| ENST00000432299.1 | MLH1-002 | 928 | 48aa | ENSP00000416783.1 | Nonsense mediated decay | E9PF25 F2Z298 | - | - | |
| ENST00000413212.1 | MLH1-009 | 684 | 52aa | ENSP00000400844.1 | Nonsense mediated decay | - | - | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete, | |
| ENST00000457004.1 | MLH1-012 | 668 | 38aa | ENSP00000407773.1 | Nonsense mediated decay | F2Z298 | - | - | |
| ENST00000458009.1 | MLH1-008 | 660 | 95aa | ENSP00000411066.1 | Nonsense mediated decay | Q16335 | - | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete, | |
| ENST00000447829.1 | MLH1-007 | 608 | 58aa | ENSP00000399329.1 | Nonsense mediated decay | Q0ZAJ6 | - | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete, | |
| ENST00000454028.1 | MLH1-018 | 570 | 38aa | ENSP00000392649.1 | Nonsense mediated decay | F2Z298 | - | - | |
| ENST00000442249.1 | MLH1-013 | 558 | 38aa | ENSP00000387511.1 | Nonsense mediated decay | F2Z298 | - | - | |
| ENST00000492474.1 | MLH1-015 | 589 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000485889.1 | MLH1-017 | 566 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000466900.1 | MLH1-019 | 555 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000476172.1 | MLH1-014 | 429 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - |
