Human (GRCh37.p13)
Description

optic atrophy 1 (autosomal dominant) [Source:HGNC Symbol;Acc:8140]

Gene Synonyms

FLJ12460, KIAA0567, MGM1, NPG, NTG, largeG

Location

Chromosome 3: 193,310,933-193,415,612 forward strand.

GRCh37:CM000665.1

About this gene

This gene has 19 transcripts (splice variants) and is associated with 4 phenotypes.

Transcript IDNamebpProteinTranslation IDBiotypeCCDSUniProt MatchRefSeqFlags
ENST00000361510.2OPA1-20264921015aaENSP00000355324.2
 
Protein coding
C9JMB8 E5KLJ5 Q6PEK6
NM_130837.2GENCODE basic
ENST00000361908.3OPA1-0016439997aaENSP00000354681.3
 
Protein coding
CCDS33917C9JY58 E5KLJ7 O60313
Q6PEK6
NM_130836.2GENCODE basic
ENST00000361715.2OPA1-2036384979aaENSP00000355311.2
 
Protein coding
E5KLJ9 Q6PEK6 NM_130835.2GENCODE basic
ENST00000361828.2OPA1-2046381978aaENSP00000354429.2
 
Protein coding
E5KLJ6 Q6PEK6 NM_130834.2GENCODE basic
ENST00000392438.3OPA1-0026340960aaENSP00000376233.3
 
Protein coding
CCDS43186C9JY58 O60313 Q6PEK6
NM_015560.2GENCODE basic
ENST00000361150.2OPA1-2016330961aaENSP00000354781.2
 
Protein coding
A8MXB6 E5KLK1 Q6PEK6
NM_130833.2GENCODE basic
ENST00000445863.1OPA1-0091096183aaENSP00000398358.1
 
Protein coding
H7C141 -CDS 5' incomplete
ENST00000419435.1OPA1-01178084aaENSP00000399877.1
 
Protein coding
C9JY58 -CDS 3' incomplete
ENST00000392436.2OPA1-005757243aaENSP00000376231.2
 
Protein coding
C9JMB8 -CDS 3' incomplete
ENST00000392437.1OPA1-004631166aaENSP00000376232.1
 
Protein coding
A8MXB6 -CDS 3' incomplete
ENST00000434811.1OPA1-006554185aaENSP00000409084.1
 
Protein coding
--CDS 5' and 3' incomplete
ENST00000429164.1OPA1-010393131aaENSP00000411699.1
 
Protein coding
--CDS 5' and 3' incomplete
ENST00000487986.1OPA1-012563No protein-
 
Processed transcript
---
ENST00000495261.1OPA1-0033660No protein-
 
Retained intron
---
ENST00000475899.1OPA1-015685No protein-
 
Retained intron
---
ENST00000483516.1OPA1-008594No protein-
 
Retained intron
---
ENST00000482865.1OPA1-014567No protein-
 
Retained intron
---
ENST00000497189.1OPA1-013562No protein-
 
Retained intron
---
ENST00000495476.1OPA1-007488No protein-
 
Retained intron
---