Human (GRCh38.p14)
Description

TSC complex subunit 1 [Source:HGNC Symbol;Acc:HGNC:12362]

Gene Synonyms

HAMARTIN, KIAA0243, LAM, TSC

Location

Chromosome 9: 132,891,348-132,946,874 reverse strand.

GRCh38:CM000671.2

About this gene

This gene has 47 transcripts (splice variants), 282 orthologues and is associated with 97 phenotypes.

Transcript IDNamebpProteinTranslation IDBiotypeCCDSUniProt MatchRefSeq MatchFlags
ENST00000298552.9TSC1-20185981164aaENSP00000298552.3
 
Protein coding
CCDS6956Q92574-1 NM_000368.5MANE SelectEnsembl CanonicalGENCODE basicAPPRIS P4TSL:1
ENST00000646440.2TSC1-23887151164aaENSP00000495830.2
 
Protein coding
CCDS6956A0A2R8Y756 X5D9D2 -APPRIS P4
ENST00000644097.1TSC1-22587151163aaENSP00000494682.1
 
Protein coding
CCDS87703A0A2R8Y5S3 -GENCODE basicAPPRIS ALT1
ENST00000490179.4TSC1-20686901164aaENSP00000495533.2
 
Protein coding
CCDS6956A0A2R8Y6S8 X5D9D2 -APPRIS ALT1TSL:3
ENST00000642261.2TSC1-2108671738aaENSP00000494743.2
 
Protein coding
A0A2R8Y5U8 -GENCODE basic
ENST00000646625.1TSC1-23985821164aaENSP00000496263.1
 
Protein coding
CCDS6956Q92574-1 -GENCODE basicAPPRIS P4
ENST00000642627.1TSC1-21385791158aaENSP00000496772.1
 
Protein coding
A0A2R8YFV7 -GENCODE basic
ENST00000644184.2TSC1-22685591150aaENSP00000495428.2
 
Protein coding
A0A2R8Y6S1 -GENCODE basic
ENST00000475903.7TSC1-20585351163aaENSP00000496126.2
 
Protein coding
CCDS87703A0A2R8YGL0 -APPRIS ALT1TSL:4
ENST00000440111.6TSC1-20384631164aaENSP00000394524.2
 
Protein coding
CCDS6956Q92574-1 -GENCODE basicAPPRIS P4TSL:1
ENST00000645129.2TSC1-23284301112aaENSP00000493639.2
 
Protein coding
A0A2R8YD74 --
ENST00000545250.5TSC1-20883101113aaENSP00000444017.1
 
Protein coding
CCDS55350Q92574-2 -GENCODE basicTSL:5
ENST00000643691.2TSC1-22382961043aaENSP00000494916.2
 
Protein coding
A0A2R8Y5M3 --
ENST00000643362.2TSC1-22082531035aaENSP00000496398.2
 
Protein coding
A0A2R8YGX7 --
ENST00000643875.1TSC1-22465911164aaENSP00000495158.1
 
Protein coding
CCDS6956Q92574-1 -GENCODE basicAPPRIS P4
ENST00000642617.1TSC1-21240391163aaENSP00000493773.1
 
Protein coding
CCDS87703A0A2R8Y5S3 -GENCODE basicAPPRIS ALT1
ENST00000643583.1TSC1-22139531159aaENSP00000494685.1
 
Protein coding
A0A2R8Y5N2 -GENCODE basic
ENST00000643072.1TSC1-21835961113aaENSP00000496691.1
 
Protein coding
CCDS55350Q92574-2 -GENCODE basic
ENST00000642646.1TSC1-2142549454aaENSP00000496292.1
 
Protein coding
Q59IT9 -GENCODE basic
ENST00000642745.1TSC1-2152299454aaENSP00000493963.1
 
Protein coding
Q59IT9 -GENCODE basic
ENST00000645150.1TSC1-2332232454aaENSP00000494365.1
 
Protein coding
Q59IT9 -GENCODE basic
ENST00000647078.2TSC1-2421841381aaENSP00000496066.1
 
Protein coding
A0A2R8Y7E9 -GENCODE basic
ENST00000647462.1TSC1-2451787453aaENSP00000495821.1
 
Protein coding
A0A2R8Y6W1 -GENCODE basic
ENST00000403810.6TSC1-2021717366aaENSP00000386093.1
 
Protein coding
Q86WV8 -GENCODE basicTSL:1
ENST00000643275.2TSC1-2198554671aaENSP00000495598.2
 
Nonsense mediated decay
A0A2R8YEH9 --
ENST00000643625.2TSC1-2228411696aaENSP00000495546.2
 
Nonsense mediated decay
A0A2R8Y6T5 --
ENST00000642811.1TSC1-216473941aaENSP00000495554.1
 
Nonsense mediated decay
A0A2R8Y419 --
ENST00000647279.1TSC1-2443953228aaENSP00000494502.1
 
Nonsense mediated decay
A0A2R8Y5F8 --
ENST00000644255.1TSC1-227376241aaENSP00000493608.1
 
Nonsense mediated decay
A0A2R8Y419 --
ENST00000646391.1TSC1-237369341aaENSP00000494104.1
 
Nonsense mediated decay
A0A2R8Y419 --
ENST00000642344.1TSC1-2111716127aaENSP00000494847.1
 
Nonsense mediated decay
A0A2R8Y5J1 --
ENST00000642854.1TSC1-2171650135aaENSP00000494639.1
 
Nonsense mediated decay
A0A2R8Y5Q4 --
ENST00000644997.1TSC1-2311525144aaENSP00000495654.1
 
Nonsense mediated decay
A0A2R8Y6N1 --
ENST00000644786.1TSC1-2295997No protein-
 
Protein coding CDS not defined
---
ENST00000646831.1TSC1-2412005No protein-
 
Protein coding CDS not defined
---
ENST00000645346.1TSC1-2341229No protein-
 
Protein coding CDS not defined
---
ENST00000646788.1TSC1-240503No protein-
 
Protein coding CDS not defined
---
ENST00000642249.1TSC1-209494No protein-
 
Protein coding CDS not defined
---
ENST00000647534.1TSC1-2477404No protein-
 
Retained intron
---
ENST00000644882.1TSC1-2307263No protein-
 
Retained intron
---
ENST00000645901.1TSC1-2355732No protein-
 
Retained intron
---
ENST00000647506.1TSC1-2465236No protein-
 
Retained intron
---
ENST00000644319.1TSC1-2284106No protein-
 
Retained intron
---
ENST00000647262.1TSC1-2433917No protein-
 
Retained intron
---
ENST00000645904.1TSC1-2362219No protein-
 
Retained intron
---
ENST00000493467.6TSC1-2071298No protein-
 
Retained intron
--TSL:1
ENST00000461879.5TSC1-204492No protein-
 
Retained intron
--TSL:3