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 11 exons, is annotated with 37 domains and features, is associated with 7178 variant alleles and maps to 483 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

Protein domains for ENSP00000367282.4