Description
bestrophin 1 [Source:HGNC Symbol;Acc:12703]
Gene Synonyms
ARB, BEST, BMD, RP50, TU15B, VMD2
Location
Chromosome 11: 61,717,823-61,729,922 forward strand.
About this transcript
This transcript has 7 exons, is annotated with 5 domains and features, is associated with 6021 variant alleles and maps to 212 oligo probes.
Gene
This transcript is a product of gene ENSG00000167995.11 Show transcript tableHide transcript table
| Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
|---|---|---|---|---|---|---|---|---|---|
| ENST00000449131.2 | BEST1-002 | 4267 | 604aa | ENSP00000399709.2 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS44623 | G8JLA7 O76090 | NM_001139443.1 | A single transcript chosen for a gene which is the most conserved, most highly expressed, has the longest coding sequence and is represented in other key resources, such as NCBI and UniProt. This is defined in detail on http://www.ensembl.org/info/genome/genebuild/canonical.htmlEnsembl Canonical, The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000378043.4 | BEST1-001 | 2740 | 585aa | ENSP00000367282.4 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS31580 | O76090 | NM_004183.3 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000378042.3 | BEST1-202 | 2598 | 498aa | ENSP00000367281.3 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | O76090 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, | |
| ENST00000534553.1 | BEST1-004 | 1829 | 55aa | ENSP00000431189.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | E9PMB5 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, | |
| ENST00000301774.9 | BEST1-201 | 1829 | 292aa | ENSP00000301774.9 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | G8JLA7 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, | |
| ENST00000526988.1 | BEST1-006 | 1263 | 329aa | ENSP00000433195.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | B7Z1N8 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, | |
| ENST00000435278.2 | BEST1-203 | 1023 | 270aa | ENSP00000408390.2 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | B7Z375 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, | |
| ENST00000524926.1 | BEST1-003 | 2404 | 435aa | ENSP00000432681.1 | Nonsense mediated decay | B7Z1N8 B7Z3G2 O76090 | - | - | |
| ENST00000524877.1 | BEST1-005 | 5772 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000529265.1 | BEST1-008 | 1421 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000533521.1 | BEST1-007 | 1128 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - |