Transcript: ENST00000493467.1 TSC1-006

Description

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

Gene Synonyms

KIAA0243, LAM, TSC, hamartin

Location

Chromosome 9: 135,785,198-135,819,982 reverse strand.

About this transcript

This transcript has 12 exons, is associated with 16998 variant alleles and maps to 352 oligo probes.

Gene

This transcript is a product of gene ENSG00000165699.9 Show transcript tableHide transcript table

Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000298552.3	TSC1-001	8604	1164aa	ENSP00000298552.3	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS6956	Q92574	NM_001162427.1	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000440111.2	TSC1-201	8463	1164aa	ENSP00000394524.2	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS6956	Q92574	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000545250.1	TSC1-202	8310	1113aa	ENSP00000444017.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS55350	Q92574	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000403810.1	TSC1-003	1507	366aa	ENSP00000386093.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		Q86WV8	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000475903.1	TSC1-005	820	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-
ENST00000490179.2	TSC1-002	681	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-
ENST00000461879.1	TSC1-004	492	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-
ENST00000493467.1	TSC1-006	2219	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-

Summary

Statistics

Exons: 12, Coding exons: 0, Transcript length: 2,219 bps,

Version

ENST00000493467.1

Type

Retained intron

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:	OTTHUMT00000319810 (version 1)

Favourite species

All species

Recent locations

Transcript: ENST00000493467.1 TSC1-006

Summary