Canonical Allele Identifier: CA355788893

Gene: OPA1

Linked Data

• MyVariant Identifiers: chr3:g.193360608G>C (hg19) ; chr3:g.193642819G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193642819G>C , CM000665.2:g.193642819G>C	GRCh38
NC_000003.11:g.193360608G>C , CM000665.1:g.193360608G>C	GRCh37
NC_000003.10:g.194843302G>C	NCBI36
NG_011605.1:g.54676G>C , LRG_337:g.54676G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000361510.8:c.1204G>C MANE Select	ENSP00000355324.2:p.Glu402Gln
ENST00000361828.7:c.1039G>C	ENSP00000354429.3:p.Glu347Gln
ENST00000361908.8:c.1150G>C	ENSP00000354681.3:p.Glu384Gln
ENST00000392436.7:c.1039G>C	ENSP00000376231.3:p.Glu347Gln
ENST00000392437.6:c.1093G>C	ENSP00000376232.2:p.Glu365Gln
ENST00000642289.1:c.1080-554G>C
ENST00000642445.1:c.1039G>C	ENSP00000495535.1:p.Glu347Gln
ENST00000642593.1:c.1039G>C	ENSP00000494273.1:p.Glu347Gln
ENST00000643329.1:c.721G>C	ENSP00000493673.1:p.Glu241Gln
ENST00000643737.1:c.*1120G>C	ENSP00000494210.1:n.*1120G>C
ENST00000644595.1:c.1039G>C	ENSP00000494121.1:p.Glu347Gln
ENST00000644629.1:c.699G>C
ENST00000644841.1:c.667G>C	ENSP00000493988.1:p.Glu223Gln
ENST00000644959.1:c.1008G>C
ENST00000645553.1:c.1054G>C	ENSP00000494725.1:p.Glu352Gln
ENST00000646085.1:c.*517G>C	ENSP00000494509.1:n.*517G>C
ENST00000646277.1:c.1204G>C	ENSP00000495289.1:p.Glu402Gln
ENST00000646544.1:c.102G>C
ENST00000646699.1:c.1080-554G>C
ENST00000646793.1:c.931G>C	ENSP00000494512.1:p.Glu311Gln
ENST00000361150.6:c.1042G>C	ENSP00000354781.2:p.Glu348Gln
ENST00000361510.6:c.1204G>C	ENSP00000355324.2:p.Glu402Gln
ENST00000361715.6:c.1096G>C	ENSP00000355311.2:p.Glu366Gln
ENST00000361828.6:c.1093G>C	ENSP00000354429.2:p.Glu365Gln
ENST00000361908.7:c.1150G>C	ENSP00000354681.3:p.Glu384Gln
ENST00000392438.7:c.1039G>C	ENSP00000376233.3:p.Glu347Gln
ENST00000475899.1:n.235G>C
ENST00000497189.5:n.525G>C
NM_015560.2:c.1039G>C , LRG_337t1:c.1039G>C	NP_056375.2:p.Glu347Gln
NM_130831.2:c.931G>C	NP_570844.1:p.Glu311Gln
NM_130832.2:c.985G>C	NP_570845.1:p.Glu329Gln
NM_130833.2:c.1042G>C	NP_570846.1:p.Glu348Gln
NM_130834.2:c.1093G>C	NP_570847.2:p.Glu365Gln
NM_130835.2:c.1096G>C	NP_570848.1:p.Glu366Gln
NM_130836.2:c.1150G>C	NP_570849.2:p.Glu384Gln
NM_130837.2:c.1204G>C , LRG_337t2:c.1204G>C	NP_570850.2:p.Glu402Gln
XM_011512863.1:c.1204G>C	XP_011511165.1:p.Glu402Gln
XM_011512864.1:c.1150G>C	XP_011511166.1:p.Glu384Gln
XM_011512865.1:c.1093G>C	XP_011511167.1:p.Glu365Gln
XM_011512866.1:c.1042G>C	XP_011511168.1:p.Glu348Gln
XM_011512867.1:c.1039G>C	XP_011511169.1:p.Glu347Gln
XM_011512868.1:c.931G>C	XP_011511170.1:p.Glu311Gln
XM_011512869.1:c.1204G>C	XP_011511171.1:p.Glu402Gln
NM_001354663.1:c.670G>C	NP_001341592.1:p.Glu224Gln
NM_001354664.1:c.667G>C	NP_001341593.1:p.Glu223Gln
XR_001740158.2:n.1433G>C
XR_001740159.2:n.1268G>C
NM_001354663.2:c.670G>C	NP_001341592.1:p.Glu224Gln
NM_001354664.2:c.667G>C	NP_001341593.1:p.Glu223Gln
NM_130831.3:c.931G>C	NP_570844.1:p.Glu311Gln
NM_130832.3:c.985G>C	NP_570845.1:p.Glu329Gln
NM_130834.3:c.1093G>C	NP_570847.2:p.Glu365Gln
NM_130836.3:c.1150G>C	NP_570849.2:p.Glu384Gln
NM_015560.3:c.1039G>C	NP_056375.2:p.Glu347Gln
NM_130833.3:c.1042G>C	NP_570846.1:p.Glu348Gln
NM_130835.3:c.1096G>C	NP_570848.1:p.Glu366Gln
NM_130837.3:c.1204G>C MANE Select	NP_570850.2:p.Glu402Gln