Human (GRCh38.p14)
Description

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

Gene Synonyms

FLJ23590

Location
About this transcript

This transcript has 17 exons, is annotated with 8 domains and features, is associated with 10587 variant alleles and maps to 584 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

Protein domains for ENSP00000317469.7