Description
optic atrophy 1 (autosomal dominant) [Source:HGNC Symbol;Acc:8140]
Gene Synonyms
FLJ12460, KIAA0567, MGM1, NPG, NTG, largeG
Location
Chromosome 3: 193,332,577-193,346,333 forward strand.
About this transcript
This transcript has 5 exons, is associated with 5739 variant alleles and maps to 120 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 | - | - | - |