Description

tuberous sclerosis 1 [Source:HGNC Symbol;Acc:HGNC:12362]

Synonyms

KIAA0243, LAM, hamartin, TSC

About this transcript

This transcript has 20 exons, is annotated with 15 domains and features, is associated with 1470 variations and maps to 605 oligo probes.

Gene
NameTranscript IDbpProteinTranslation IDBiotypeCCDSUniProtRefSeqFlags
TSC1-201ENST00000298552.786041164aaENSP00000298552
 
Protein coding
CCDS6956Q92574 X5D9D2 NM_000368
NM_001162426
NM_001162427
NP_000359
NP_001155898
NP_001155899
TSL:1GENCODE basicAPPRIS P1
TSC1-203ENST00000440111.684631164aaENSP00000394524
 
Protein coding
CCDS6956Q92574 X5D9D2 -TSL:1GENCODE basicAPPRIS P1
TSC1-208ENST00000545250.583101113aaENSP00000444017
 
Protein coding
CCDS55350Q92574 -TSL:5GENCODE basic
TSC1-202ENST00000403810.51507366aaENSP00000386093
 
Protein coding
-Q86WV8 -TSL:1GENCODE basic
TSC1-205ENST00000475903.5820No protein-
 
Processed transcript
---TSL:4
TSC1-206ENST00000490179.2681No protein-
 
Processed transcript
---TSL:3
TSC1-204ENST00000461879.5492No protein-
 
Processed transcript
---TSL:3
TSC1-207ENST00000493467.52219No protein-
 
Retained intron
---TSL:1
Statistics

Exons: 20, Coding exons: 20, Transcript length: 8,310 bps, Translation length: 1,113 residues

CCDS

This transcript is a member of the Human CCDS set: CCDS55350

Uniprot

This transcript corresponds to the following Uniprot identifiers: Q92574

Transcript Support Level (TSL)

TSL:5

Version

ENST00000545250.5

Type

Known protein coding

Annotation Method

Annotation produced by the Ensembl genebuild.

GENCODE basic gene

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

Transcript-based displays