EnsemblEnsembl Home
Human (GRCh37.p13)
Description

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

Gene Synonyms

KIAA0243, LAM, TSC, hamartin

About this transcript

This transcript has 23 exons, is annotated with 13 domains and features, is associated with 15581 variant alleles and maps to 767 oligo probes.

Gene
NameTranscript IDbpProteinTranslation IDBiotypeCCDSUniProt MatchRefSeqFlags
TSC1-001ENST00000298552.386041164aaENSP00000298552.3
 
Protein coding
CCDS6956Q92574 NM_000368
NM_001162426
NM_001162427
NP_000359
NP_001155898
NP_001155899
GENCODE basic
TSC1-201ENST00000440111.284631164aaENSP00000394524.2
 
Protein coding
CCDS6956Q92574 -GENCODE basic
TSC1-202ENST00000545250.183101113aaENSP00000444017.1
 
Protein coding
CCDS55350Q92574 -GENCODE basic
TSC1-003ENST00000403810.11507366aaENSP00000386093.1
 
Protein coding
-Q86WV8 -GENCODE basic
TSC1-005ENST00000475903.1820No protein-
 
Processed transcript
----
TSC1-002ENST00000490179.2681No protein-
 
Processed transcript
----
TSC1-004ENST00000461879.1492No protein-
 
Processed transcript
----
TSC1-006ENST00000493467.12219No protein-
 
Retained intron
----
Statistics

Exons: 23, Coding exons: 21, Transcript length: 8,604 bps, Translation length: 1,164 residues

CCDS

This transcript is a member of the Human CCDS set: CCDS6956

Uniprot

This transcript corresponds to the following Uniprot identifiers: Q92574

Version

ENST00000298552.3

Type

Protein coding

Annotation Method

Manual annotation (determined on a case-by-case basis) from the Havana project.

Alternative transcripts

This transcript corresponds to the following database identifiers:

Havana transcript:
OTTHUMT00000054799 (version 1)
GENCODE basic gene

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

Transcript-based displays