Canonical Allele Identifier: CA2580070533

Gene: OPA1 OPA1-AS1

Linked Data

• ClinVar Variation Id: 1701466
• ClinVar RCV Id: RCV002276442
• dbSNP Id: rs2108889206

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193618887_193618889delinsGC , CM000665.2:g.193618887_193618889delinsGC	GRCh38
NC_000003.11:g.193336676_193336678delinsGC , CM000665.1:g.193336676_193336678delinsGC	GRCh37
NC_000003.10:g.194819370_194819372delinsGC	NCBI36
NG_011605.1:g.30744_30746delinsGC , LRG_337:g.30744_30746delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361510.8:c.629_631delinsGC (OPA1) MANE Select	ENSP00000355324.2:p.Ala210GlyfsTer?
ENST00000361828.7:c.575_577delinsGC (OPA1)	ENSP00000354429.3:p.Ala192GlyfsTer?
ENST00000361908.8:c.575_577delinsGC (OPA1)	ENSP00000354681.3:p.Ala192GlyfsTer?
ENST00000392436.7:c.575_577delinsGC (OPA1)	ENSP00000376231.3:p.Ala192GlyfsTer?
ENST00000392437.6:c.629_631delinsGC (OPA1)	ENSP00000376232.2:p.Ala210GlyfsTer?
ENST00000434811.2:c.415_417delinsGC (OPA1)
ENST00000642289.1:c.670_672delinsGC (OPA1)
ENST00000642445.1:c.575_577delinsGC (OPA1)	ENSP00000495535.1:p.Ala192GlyfsTer?
ENST00000642593.1:c.575_577delinsGC (OPA1)	ENSP00000494273.1:p.Ala192GlyfsTer?
ENST00000643329.1:c.257_259delinsGC (OPA1)	ENSP00000493673.1:p.Ala86GlyfsTer?
ENST00000643737.1:c.*656_*658delinsGC (OPA1)	ENSP00000494210.1:n.*656_*658delinsGC
ENST00000644595.1:c.575_577delinsGC (OPA1)	ENSP00000494121.1:p.Ala192GlyfsTer?
ENST00000644629.1:c.235_237delinsGC (OPA1)
ENST00000644841.1:c.203_205delinsGC (OPA1)	ENSP00000493988.1:p.Ala68GlyfsTer?
ENST00000644959.1:c.544_546delinsGC (OPA1)
ENST00000645553.1:c.575_577delinsGC (OPA1)	ENSP00000494725.1:p.Ala192GlyfsTer?
ENST00000646085.1:c.575_577delinsGC (OPA1)	ENSP00000494509.1:p.Ala192GlyfsTer?
ENST00000646277.1:c.629_631delinsGC (OPA1)	ENSP00000495289.1:p.Ala210GlyfsTer?
ENST00000646699.1:c.670_672delinsGC (OPA1)
ENST00000646793.1:c.467_469delinsGC (OPA1)	ENSP00000494512.1:p.Ala156GlyfsTer?
ENST00000361150.6:c.467_469delinsGC (OPA1)	ENSP00000354781.2:p.Ala156GlyfsTer?
ENST00000361510.6:c.629_631delinsGC (OPA1)	ENSP00000355324.2:p.Ala210GlyfsTer?
ENST00000361715.6:c.521_523delinsGC (OPA1)	ENSP00000355311.2:p.Ala174GlyfsTer?
ENST00000361828.6:c.629_631delinsGC (OPA1)	ENSP00000354429.2:p.Ala210GlyfsTer?
ENST00000361908.7:c.575_577delinsGC (OPA1)	ENSP00000354681.3:p.Ala192GlyfsTer?
ENST00000392436.6:c.629_631delinsGC (OPA1)	ENSP00000376231.2:p.Ala210GlyfsTer?
ENST00000392437.5:c.467_469delinsGC (OPA1)	ENSP00000376232.1:p.Ala156GlyfsTer?
ENST00000392438.7:c.575_577delinsGC (OPA1)	ENSP00000376233.3:p.Ala192GlyfsTer?
ENST00000419435.5:c.203_205delinsGC (OPA1)	ENSP00000399877.1:p.Ala68GlyfsTer?
ENST00000434811.1:c.328_330delinsGC (OPA1)
ENST00000487986.1:n.478_480delinsGC (OPA1)
ENST00000497189.5:n.61_63delinsGC (OPA1)
NM_015560.2:c.575_577delinsGC , LRG_337t1:c.575_577delinsGC (OPA1)	NP_056375.2:p.Ala192GlyfsTer?
NM_130831.2:c.467_469delinsGC (OPA1)	NP_570844.1:p.Ala156GlyfsTer?
NM_130832.2:c.521_523delinsGC (OPA1)	NP_570845.1:p.Ala174GlyfsTer?
NM_130833.2:c.467_469delinsGC (OPA1)	NP_570846.1:p.Ala156GlyfsTer?
NM_130834.2:c.629_631delinsGC (OPA1)	NP_570847.2:p.Ala210GlyfsTer?
NM_130835.2:c.521_523delinsGC (OPA1)	NP_570848.1:p.Ala174GlyfsTer?
NM_130836.2:c.575_577delinsGC (OPA1)	NP_570849.2:p.Ala192GlyfsTer?
NM_130837.2:c.629_631delinsGC , LRG_337t2:c.629_631delinsGC (OPA1)	NP_570850.2:p.Ala210GlyfsTer?
NR_046634.1:n.212_214delinsGC (OPA1-AS1)
XM_011512863.1:c.629_631delinsGC (OPA1)	XP_011511165.1:p.Ala210GlyfsTer?
XM_011512864.1:c.575_577delinsGC (OPA1)	XP_011511166.1:p.Ala192GlyfsTer?
XM_011512865.1:c.629_631delinsGC (OPA1)	XP_011511167.1:p.Ala210GlyfsTer?
XM_011512866.1:c.467_469delinsGC (OPA1)	XP_011511168.1:p.Ala156GlyfsTer?
XM_011512867.1:c.575_577delinsGC (OPA1)	XP_011511169.1:p.Ala192GlyfsTer?
XM_011512868.1:c.467_469delinsGC (OPA1)	XP_011511170.1:p.Ala156GlyfsTer?
XM_011512869.1:c.629_631delinsGC (OPA1)	XP_011511171.1:p.Ala210GlyfsTer?
NM_001354663.1:c.95_97delinsGC (OPA1)	NP_001341592.1:p.Ala32GlyfsTer?
NM_001354664.1:c.203_205delinsGC (OPA1)	NP_001341593.1:p.Ala68GlyfsTer?
XR_001740158.2:n.858_860delinsGC (OPA1)
XR_001740159.2:n.804_806delinsGC (OPA1)
NM_001354663.2:c.95_97delinsGC (OPA1)	NP_001341592.1:p.Ala32GlyfsTer?
NM_001354664.2:c.203_205delinsGC (OPA1)	NP_001341593.1:p.Ala68GlyfsTer?
NM_130831.3:c.467_469delinsGC (OPA1)	NP_570844.1:p.Ala156GlyfsTer?
NM_130832.3:c.521_523delinsGC (OPA1)	NP_570845.1:p.Ala174GlyfsTer?
NM_130834.3:c.629_631delinsGC (OPA1)	NP_570847.2:p.Ala210GlyfsTer?
NM_130836.3:c.575_577delinsGC (OPA1)	NP_570849.2:p.Ala192GlyfsTer?
NM_015560.3:c.575_577delinsGC (OPA1)	NP_056375.2:p.Ala192GlyfsTer?
NM_130833.3:c.467_469delinsGC (OPA1)	NP_570846.1:p.Ala156GlyfsTer?
NM_130835.3:c.521_523delinsGC (OPA1)	NP_570848.1:p.Ala174GlyfsTer?
NM_130837.3:c.629_631delinsGC (OPA1) MANE Select	NP_570850.2:p.Ala210GlyfsTer?