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Human (GRCh37.p13)
Description

mutL homolog 1 [Source:HGNC Symbol;Acc:7127]

Gene Synonyms

COCA2, FCC2, HNPCC, HNPCC2, hMLH1

Location
About this transcript

This transcript has 19 exons, is annotated with 12 domains and features, is associated with 17784 variant alleles and maps to 738 oligo probes.

NameTranscript IDbpProteinTranslation IDBiotypeCCDSUniProtRefSeqFlags
MLH1-001ENST00000231790.22752756aaENSP00000231790.2
 
Protein coding
CCDS2663A8W2I7 B7Z821 C4PFY8
E7EUC9 F2Z298 P40692
Q5GJ64
NM_000249
NM_001258273
NP_000240
NP_001245202
GENCODE basic
MLH1-004ENST00000458205.22608515aaENSP00000402667.2
 
Protein coding
CCDS54563A8W2I7 B7Z821 C4PFY8
E7EUC9 P40692
NM_001258274
NP_001245203
GENCODE basic
MLH1-006ENST00000435176.12428658aaENSP00000402564.1
 
Protein coding
CCDS54562A8W2I7 B7Z821 C4PFY8
C9JZ54 E7EUC9 P40692
NM_001167617
NM_001167618
NP_001161089
NP_001161090
GENCODE basic
MLH1-202ENST00000539477.12366515aaENSP00000443665.1
 
Protein coding
CCDS54563A8W2I7 B7Z821 C4PFY8
E7EUC9 P40692
NM_001167619
NP_001161091
GENCODE basic
MLH1-005ENST00000455445.22296515aaENSP00000398272.2
 
Protein coding
CCDS54563A8W2I7 B7Z821 C4PFY8
E7EUC9 P40692
-GENCODE basic
MLH1-201ENST00000536378.12303460aaENSP00000444286.1
 
Protein coding
-A8W2I7 B7Z821 C4PFY8
E7EUC9
-GENCODE basic
MLH1-003ENST00000456676.22230679aaENSP00000416687.2
 
Protein coding
-A8W2I7 C4PFY8 E7EUC9
NM_001258271
NP_001245200
CDS 5' incomplete
MLH1-020ENST00000441265.1917105aaENSP00000398392.1
 
Protein coding
-E7EUC9 -CDS 3' incomplete
MLH1-016ENST00000429117.156283aaENSP00000407019.1
 
Protein coding
-C9JZ54 -CDS 3' incomplete
MLH1-011ENST00000413740.1342114aaENSP00000416476.1
 
Protein coding
-C4PFY8 H0Y806 -CDS 5' and 3' incomplete
MLH1-010ENST00000450420.123361aaENSP00000393006.1
 
Protein coding
-H0Y4N0 -CDS 5' incomplete
MLH1-002ENST00000432299.192848aaENSP00000416783.1
 
Nonsense mediated decay
-E9PF25 F2Z298 --
MLH1-009ENST00000413212.168452aaENSP00000400844.1
 
Nonsense mediated decay
---CDS 5' incomplete
MLH1-012ENST00000457004.166838aaENSP00000407773.1
 
Nonsense mediated decay
-F2Z298 --
MLH1-008ENST00000458009.166095aaENSP00000411066.1
 
Nonsense mediated decay
-Q16335 -CDS 5' incomplete
MLH1-007ENST00000447829.160858aaENSP00000399329.1
 
Nonsense mediated decay
-Q0ZAJ6 -CDS 5' incomplete
MLH1-018ENST00000454028.157038aaENSP00000392649.1
 
Nonsense mediated decay
-F2Z298 --
MLH1-013ENST00000442249.155838aaENSP00000387511.1
 
Nonsense mediated decay
-F2Z298 --
MLH1-015ENST00000492474.1589No protein-
 
Processed transcript
----
MLH1-017ENST00000485889.1566No protein-
 
Processed transcript
----
MLH1-019ENST00000466900.1555No protein-
 
Processed transcript
----
MLH1-014ENST00000476172.1429No protein-
 
Processed transcript
----
Statistics

Exons: 19, Coding exons: 19, Transcript length: 2,752 bps, Translation length: 756 residues

CCDS

This transcript is a member of the Human CCDS set: CCDS2663

Uniprot

This transcript corresponds to the following Uniprot identifiers: P40692

Version

ENST00000231790.2

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.

Alternative transcripts

This transcript corresponds to the following database identifiers:

Transcript having exact match between ENSEMBL and HAVANA:
OTTHUMT00000253337 (version 2)
GENCODE basic gene

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

Transcript-based displays