Human (GRCh38.p14)
Description

Bardet-Biedl syndrome 1 [Source:HGNC Symbol;Acc:HGNC:966]

Gene Synonyms

FLJ23590

Location
About this transcript

This transcript has 13 exons, is annotated with 5 domains and features, is associated with 10040 variant alleles and maps to 437 oligo probes.

Transcript IDNamebpProteinTranslation IDBiotypeCCDSUniProt MatchRefSeq MatchFlags
ENST00000318312.12BBS1-2013368593aaENSP00000317469.7
 
Protein coding
CCDS8142Q8NFJ9-1 NM_024649.5MANE SelectEnsembl CanonicalGENCODE basicAPPRIS P1TSL:1
ENST00000630659.2BBS1-225193485aaENSP00000486455.1
 
Protein coding
E9PJ28 -GENCODE basicTSL:5
ENST00000393994.4BBS1-2021790446aaENSP00000377563.2
 
Protein coding
Q8NFJ9-3 -GENCODE basicTSL:1
ENST00000455748.6BBS1-2031552496aaENSP00000405764.2
 
Protein coding
E7EQH1 -GENCODE basicTSL:2
ENST00000525809.5BBS1-208601192aaENSP00000431187.1
 
Protein coding
E9PMB7 -TSL:5CDS 3' incomplete
ENST00000526815.5BBS1-21158454aaENSP00000436860.1
 
Protein coding
E9PQD9 -TSL:3CDS 3' incomplete
ENST00000524705.2BBS1-20533366aaENSP00000436927.1
 
Protein coding
E9PPR3 -TSL:3CDS 3' incomplete
ENST00000526760.5BBS1-210358585aaENSP00000432140.1
 
Nonsense mediated decay
E9PJ28 -TSL:2
ENST00000533557.5BBS1-222104385aaENSP00000434619.1
 
Nonsense mediated decay
E9PJ28 -TSL:2
ENST00000527251.5BBS1-212103455aaENSP00000434360.1
 
Nonsense mediated decay
E9PQK2 -TSL:3
ENST00000532908.5BBS1-220100185aaENSP00000431866.1
 
Nonsense mediated decay
E9PJ28 -TSL:5
ENST00000533644.5BBS1-223910164aaENSP00000436073.1
 
Nonsense mediated decay
E9PR55 -TSL:3
ENST00000524458.5BBS1-20489155aaENSP00000436195.1
 
Nonsense mediated decay
E9PQK2 -TSL:5
ENST00000526035.5BBS1-20982285aaENSP00000434197.1
 
Nonsense mediated decay
E9PJ28 -TSL:5
ENST00000529766.5BBS1-2151590No protein-
 
Protein coding CDS not defined
--TSL:5
ENST00000529953.5BBS1-217604No protein-
 
Protein coding CDS not defined
--TSL:4
ENST00000529955.5BBS1-2183437No protein-
 
Retained intron
--TSL:1
ENST00000533430.5BBS1-221844No protein-
 
Retained intron
--TSL:3
ENST00000524907.5BBS1-207828No protein-
 
Retained intron
--TSL:2
ENST00000527959.1BBS1-213734No protein-
 
Retained intron
--TSL:2
ENST00000534730.5BBS1-224627No protein-
 
Retained intron
--TSL:2
ENST00000532283.1BBS1-219590No protein-
 
Retained intron
--TSL:4
ENST00000524884.1BBS1-206572No protein-
 
Retained intron
--TSL:4
ENST00000529895.1BBS1-216560No protein-
 
Retained intron
--TSL:2
ENST00000528543.1BBS1-214384No protein-
 
Retained intron
--TSL:5
Statistics

Exons: 13, Coding exons: 13, Transcript length: 1,790 bps, Translation length: 446 residues

Uniprot

This transcript corresponds to the following Uniprot identifiers: Q8NFJ9

Transcript Support Level (TSL)

TSL:1

Version

ENST00000393994.4

Type

Protein coding

Annotation Method

Transcript where the Ensembl genebuild transcript and the Havana manual annotation have the same sequence, for every base pair. See article.

GENCODE basic gene

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