Description

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

Synonyms

hamartin, KIAA0243, LAM, TSC

About this transcript

This transcript has 20 exons, is annotated with 14 domains and features, is associated with 886 variations and maps to 43 oligo probes.

Gene
NameTranscript IDbpProteinTranslation IDBiotypeCCDSUniProtRefSeqFlags
TSC1-001ENST0000029855286041164aaENSP00000298552
 
Protein coding
CCDS6956Q92574 X5D9D2 NM_000368
NM_001162426
NP_000359
NP_001155898
TSL:1GENCODE basicAPPRIS P1
TSC1-201ENST0000044011184631164aaENSP00000394524
 
Protein coding
CCDS6956Q92574 X5D9D2 -TSL:1GENCODE basicAPPRIS P1
TSC1-202ENST0000054525083101113aaENSP00000444017
 
Protein coding
CCDS55350Q92574 NM_001162427
NP_001155899
TSL:2GENCODE basic
TSC1-003ENST000004038101507366aaENSP00000386093
 
Protein coding
-Q86WV8 -TSL:1GENCODE basic
TSC1-005ENST00000475903820No protein-
 
Processed transcript
---TSL:4
TSC1-002ENST00000490179681No protein-
 
Processed transcript
---TSL:3
TSC1-004ENST00000461879492No protein-
 
Processed transcript
---TSL:3
TSC1-006ENST000004934672219No protein-
 
Retained intron
---TSL:1

Protein domains for ENSP00000444017.1

Transcript-based displays