Human (GRCh38.p14)
Description

bestrophin 1 [Source:HGNC Symbol;Acc:HGNC:12703]

Gene Synonyms

BEST, BMD, RP50, VMD2

Location
About this transcript

This transcript has 7 exons, is associated with 7100 variant alleles and maps to 566 oligo probes.

Transcript IDNamebpProteinTranslation IDBiotypeCCDSUniProt MatchRefSeq MatchFlags
ENST00000378043.9BEST1-2012210585aaENSP00000367282.4
 
Protein coding
CCDS31580O76090-1 NM_004183.4MANE SelectEnsembl CanonicalGENCODE basicAPPRIS P1TSL:1
ENST00000449131.6BEST1-2024267604aaENSP00000399709.2
 
Protein coding
CCDS44623O76090-3 -GENCODE basicTSL:1
ENST00000534553.5BEST1-208182955aaENSP00000431189.1
 
Protein coding
E9PMB5 -GENCODE basicTSL:2
ENST00000526988.1BEST1-2051263329aaENSP00000433195.1
 
Protein coding
B7Z1N8 -GENCODE basicTSL:2
ENST00000524926.5BEST1-2042404435aaENSP00000432681.1
 
Nonsense mediated decay
CCDS86208A0A0C4DGE9 -TSL:2
ENST00000524877.5BEST1-2035772No protein-
 
Retained intron
--TSL:2
ENST00000529265.5BEST1-2061421No protein-
 
Retained intron
--TSL:2
ENST00000533521.5BEST1-2071128No protein-
 
Retained intron
--TSL:2
Statistics

Exons: 7, Coding exons: 0, Transcript length: 5,772 bps,

Transcript Support Level (TSL)

TSL:2

Version

ENST00000524877.5

Type

Retained intron

Annotation Method

Manual annotation (determined on a case-by-case basis) from the Havana project.