Description
optic atrophy 1 (autosomal dominant) [Source:HGNC Symbol;Acc:8140]
Gene Synonyms
FLJ12460, KIAA0567, MGM1, NPG, NTG, largeG
Location
Chromosome 3: 193,310,933-193,415,599 forward strand.
About this transcript
This transcript has 31 exons, is annotated with 17 domains and features, is associated with 45902 variant alleles and maps to 972 oligo probes.
Gene
This transcript is a product of gene ENSG00000198836.4 Show transcript tableHide transcript table
| Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
|---|---|---|---|---|---|---|---|---|---|
| ENST00000361510.2 | OPA1-202 | 6492 | 1015aa | ENSP00000355324.2 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | C9JMB8 E5KLJ5 Q6PEK6 | NM_130837.2 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, | |
| ENST00000361908.3 | OPA1-001 | 6439 | 997aa | ENSP00000354681.3 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS33917 | C9JY58 E5KLJ7 O60313 Q6PEK6 | NM_130836.2 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000361715.2 | OPA1-203 | 6384 | 979aa | ENSP00000355311.2 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | E5KLJ9 Q6PEK6 | NM_130835.2 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, | |
| ENST00000361828.2 | OPA1-204 | 6381 | 978aa | ENSP00000354429.2 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | E5KLJ6 Q6PEK6 | NM_130834.2 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, | |
| ENST00000392438.3 | OPA1-002 | 6340 | 960aa | ENSP00000376233.3 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS43186 | C9JY58 O60313 Q6PEK6 | NM_015560.2 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000361150.2 | OPA1-201 | 6330 | 961aa | ENSP00000354781.2 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | A8MXB6 E5KLK1 Q6PEK6 | NM_130833.2 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, | |
| ENST00000445863.1 | OPA1-009 | 1096 | 183aa | ENSP00000398358.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | H7C141 | - | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete, | |
| ENST00000419435.1 | OPA1-011 | 780 | 84aa | ENSP00000399877.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | C9JY58 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000392436.2 | OPA1-005 | 757 | 243aa | ENSP00000376231.2 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | C9JMB8 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000392437.1 | OPA1-004 | 631 | 166aa | ENSP00000376232.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | A8MXB6 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000434811.1 | OPA1-006 | 554 | 185aa | ENSP00000409084.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | - | - | 5' and 3' truncations in transcript evidence prevent annotation of the start and the end of the CDS.CDS 5' and 3' incomplete, | |
| ENST00000429164.1 | OPA1-010 | 393 | 131aa | ENSP00000411699.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | - | - | 5' and 3' truncations in transcript evidence prevent annotation of the start and the end of the CDS.CDS 5' and 3' incomplete, | |
| ENST00000487986.1 | OPA1-012 | 563 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000495261.1 | OPA1-003 | 3660 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000475899.1 | OPA1-015 | 685 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000483516.1 | OPA1-008 | 594 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000482865.1 | OPA1-014 | 567 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000497189.1 | OPA1-013 | 562 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000495476.1 | OPA1-007 | 488 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - |