Description

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

Synonyms

FLJ12460, KIAA0567, MGM1, NPG, NTG

Location

Chromosome 3: 193,593,144-193,697,823 forward strand.

GRCh38:CM000665.2

About this gene

This gene has 19 transcripts (splice variants), 71 orthologues, is a member of 3 Ensembl protein families and is associated with 4 phenotypes.

NameTranscript IDbpProteinTranslation IDBiotypeCCDSUniProtRefSeqFlags
OPA1-001ENST000003619086439997aaENSP00000354681
 
Protein coding
CCDS33917E5KLJ7 O60313 NM_130836
NP_570849
TSL:1GENCODE basicAPPRIS P3
OPA1-002ENST000003924386340960aaENSP00000376233
 
Protein coding
CCDS43186O60313 NM_015560
NP_056375
TSL:1GENCODE basicAPPRIS ALT1
OPA1-202ENST0000036151064921015aaENSP00000355324
 
Protein coding
-E5KLJ5 NM_130837
NP_570850
TSL:5GENCODE basicAPPRIS ALT2
OPA1-203ENST000003617156384979aaENSP00000355311
 
Protein coding
-E5KLJ9 NM_130835
NP_570848
TSL:5GENCODE basic
OPA1-204ENST000003618286381978aaENSP00000354429
 
Protein coding
-E5KLJ6 NM_130832
NM_130834
NP_570845
NP_570847
TSL:5GENCODE basicAPPRIS ALT1
OPA1-201ENST000003611506330961aaENSP00000354781
 
Protein coding
-E5KLK1 NM_130831
NM_130833
NP_570844
NP_570846
TSL:5GENCODE basic
OPA1-009ENST000004458631096183aaENSP00000398358
 
Protein coding
-H7C141 -CDS 5' incompleteTSL:3
OPA1-011ENST0000041943578084aaENSP00000399877
 
Protein coding
-C9JY58 -CDS 3' incompleteTSL:3
OPA1-005ENST00000392436757243aaENSP00000376231
 
Protein coding
-C9JMB8 -CDS 3' incompleteTSL:3
OPA1-004ENST00000392437631166aaENSP00000376232
 
Protein coding
-A8MXB6 -CDS 3' incompleteTSL:3
OPA1-006ENST00000434811554185aaENSP00000409084
 
Protein coding
-H7C321 -CDS 5' and 3' incompleteTSL:4
OPA1-010ENST00000429164393131aaENSP00000411699
 
Protein coding
-H7C3G2 -CDS 5' and 3' incompleteTSL:3
OPA1-012ENST00000487986563No protein-
 
Processed transcript
---TSL:4
OPA1-003ENST000004952613660No protein-
 
Retained intron
---TSL:1
OPA1-015ENST00000475899685No protein-
 
Retained intron
---TSL:3
OPA1-008ENST00000483516594No protein-
 
Retained intron
---TSL:3
OPA1-014ENST00000482865567No protein-
 
Retained intron
---TSL:4
OPA1-013ENST00000497189562No protein-
 
Retained intron
---TSL:4
OPA1-007ENST00000495476488No protein-
 
Retained intron
---TSL:3

Gene-based displays