Description
tuberous sclerosis 1 [Source:HGNC Symbol;Acc:12362]
Gene Synonyms
KIAA0243, LAM, TSC, hamartin
Location
Chromosome 9: 135,766,735-135,820,020 reverse strand.
GRCh37:CM000671.1
About this gene
This gene has 8 transcripts (splice variants) and is associated with 123 phenotypes.
Transcripts
| Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
|---|---|---|---|---|---|---|---|---|---|
| ENST00000298552.3 | TSC1-001 | 8604 | 1164aa | ENSP00000298552.3 | Protein coding | CCDS6956 | Q92574 | NM_001162427.1 | GENCODE basic, |
| ENST00000440111.2 | TSC1-201 | 8463 | 1164aa | ENSP00000394524.2 | Protein coding | CCDS6956 | Q92574 | - | GENCODE basic, |
| ENST00000545250.1 | TSC1-202 | 8310 | 1113aa | ENSP00000444017.1 | Protein coding | CCDS55350 | Q92574 | - | GENCODE basic, |
| ENST00000403810.1 | TSC1-003 | 1507 | 366aa | ENSP00000386093.1 | Protein coding | Q86WV8 | - | GENCODE basic, | |
| ENST00000475903.1 | TSC1-005 | 820 | No protein | - | Processed transcript | - | - | - | |
| ENST00000490179.2 | TSC1-002 | 681 | No protein | - | Processed transcript | - | - | - | |
| ENST00000461879.1 | TSC1-004 | 492 | No protein | - | Processed transcript | - | - | - | |
| ENST00000493467.1 | TSC1-006 | 2219 | No protein | - | Retained intron | - | - | - |
