Description

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

Synonyms

BEST, BMD, RP50, VMD2

Location

Chromosome 11: 61,949,821-61,965,515 forward strand.

GRCh38:CM000673.2

About this gene

This gene has 8 transcripts (splice variants), 88 orthologues, 3 paralogues, is a member of 2 Ensembl protein families and is associated with 10 phenotypes.

NameTranscript IDbpProteinTranslation IDBiotypeCCDSUniProtRefSeqFlags
BEST1-002ENST000004491314267604aaENSP00000399709
 
Protein coding
CCDS44623O76090 NM_001139443
NP_001132915
TSL:1GENCODE basic
BEST1-001ENST000003780432740585aaENSP00000367282
 
Protein coding
CCDS31580O76090 NM_001300787
NM_004183
NP_001287716
NP_004174
TSL:1GENCODE basicAPPRIS P1
BEST1-004ENST00000534553182955aaENSP00000431189
 
Protein coding
-E9PMB5 -TSL:2GENCODE basic
BEST1-006ENST000005269881263329aaENSP00000433195
 
Protein coding
-B7Z1N8 -TSL:2GENCODE basic
BEST1-003ENST000005249262404435aaENSP00000432681
 
Nonsense mediated decay
-A0A0C4DGE9 -TSL:2
BEST1-005ENST000005248775772No protein-
 
Retained intron
---TSL:2
BEST1-008ENST000005292651421No protein-
 
Retained intron
---TSL:2
BEST1-007ENST000005335211128No protein-
 
Retained intron
---TSL:2

Gene-based displays