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Human (GRCh37.p13)
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.

Transcript IDNamebpProteinTranslation IDBiotypeCCDSUniProt MatchRefSeqFlags
ENST00000298552.3TSC1-00186041164aaENSP00000298552.3
 
Protein coding
CCDS6956Q92574 NM_000368
NM_001162426
NM_001162427
NP_000359
NP_001155898
NP_001155899
GENCODE basic
ENST00000440111.2TSC1-20184631164aaENSP00000394524.2
 
Protein coding
CCDS6956Q92574 -GENCODE basic
ENST00000545250.1TSC1-20283101113aaENSP00000444017.1
 
Protein coding
CCDS55350Q92574 -GENCODE basic
ENST00000403810.1TSC1-0031507366aaENSP00000386093.1
 
Protein coding
-Q86WV8 -GENCODE basic
ENST00000475903.1TSC1-005820No protein-
 
Processed transcript
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ENST00000490179.2TSC1-002681No protein-
 
Processed transcript
----
ENST00000461879.1TSC1-004492No protein-
 
Processed transcript
----
ENST00000493467.1TSC1-0062219No protein-
 
Retained intron
----

Gene-based displays