Canonical Allele Identifier: CA355793197

Gene: OPA1

Linked Data

• MyVariant Identifiers: chr3:g.193380693A>G (hg19) ; chr3:g.193662904A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193662904A>G , CM000665.2:g.193662904A>G	GRCh38
NC_000003.11:g.193380693A>G , CM000665.1:g.193380693A>G	GRCh37
NC_000003.10:g.194863387A>G	NCBI36
NG_011605.1:g.74761A>G , LRG_337:g.74761A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361510.8:c.2603A>G MANE Select	ENSP00000355324.2:p.Glu868Gly
ENST00000361828.7:c.2438A>G	ENSP00000354429.3:p.Glu813Gly
ENST00000361908.8:c.2549A>G	ENSP00000354681.3:p.Glu850Gly
ENST00000392436.7:c.2438A>G	ENSP00000376231.3:p.Glu813Gly
ENST00000392437.6:c.2492A>G	ENSP00000376232.2:p.Glu831Gly
ENST00000642289.1:c.2377A>G
ENST00000642445.1:c.2438A>G	ENSP00000495535.1:p.Glu813Gly
ENST00000642593.1:c.*663A>G	ENSP00000494273.1:n.*663A>G
ENST00000643329.1:c.2120A>G	ENSP00000493673.1:p.Glu707Gly
ENST00000643737.1:c.*2519A>G	ENSP00000494210.1:n.*2519A>G
ENST00000644595.1:c.2438A>G	ENSP00000494121.1:p.Glu813Gly
ENST00000644629.1:c.2025A>G
ENST00000644841.1:c.*922A>G	ENSP00000493988.1:n.*922A>G
ENST00000644959.1:c.2432A>G
ENST00000645553.1:c.2453A>G	ENSP00000494725.1:p.Glu818Gly
ENST00000646085.1:c.*1916A>G	ENSP00000494509.1:n.*1916A>G
ENST00000646277.1:c.*1039A>G	ENSP00000495289.1:n.*1039A>G
ENST00000646544.1:c.1426A>G
ENST00000646699.1:c.2377A>G
ENST00000646793.1:c.2330A>G	ENSP00000494512.1:p.Glu777Gly
ENST00000361150.6:c.2441A>G	ENSP00000354781.2:p.Glu814Gly
ENST00000361510.6:c.2603A>G	ENSP00000355324.2:p.Glu868Gly
ENST00000361715.6:c.2495A>G	ENSP00000355311.2:p.Glu832Gly
ENST00000361828.6:c.2492A>G	ENSP00000354429.2:p.Glu831Gly
ENST00000361908.7:c.2549A>G	ENSP00000354681.3:p.Glu850Gly
ENST00000392438.7:c.2438A>G	ENSP00000376233.3:p.Glu813Gly
ENST00000445863.1:c.14A>G	ENSP00000398358.1:p.Glu5Gly
NM_015560.2:c.2438A>G , LRG_337t1:c.2438A>G	NP_056375.2:p.Glu813Gly
NM_130831.2:c.2330A>G	NP_570844.1:p.Glu777Gly
NM_130832.2:c.2384A>G	NP_570845.1:p.Glu795Gly
NM_130833.2:c.2441A>G	NP_570846.1:p.Glu814Gly
NM_130834.2:c.2492A>G	NP_570847.2:p.Glu831Gly
NM_130835.2:c.2495A>G	NP_570848.1:p.Glu832Gly
NM_130836.2:c.2549A>G	NP_570849.2:p.Glu850Gly
NM_130837.2:c.2603A>G , LRG_337t2:c.2603A>G	NP_570850.2:p.Glu868Gly
XM_011512863.1:c.2603A>G	XP_011511165.1:p.Glu868Gly
XM_011512864.1:c.2549A>G	XP_011511166.1:p.Glu850Gly
XM_011512865.1:c.2492A>G	XP_011511167.1:p.Glu831Gly
XM_011512866.1:c.2441A>G	XP_011511168.1:p.Glu814Gly
XM_011512867.1:c.2438A>G	XP_011511169.1:p.Glu813Gly
XM_011512868.1:c.2330A>G	XP_011511170.1:p.Glu777Gly
XR_924835.1:n.582+6016T>C
NM_001354663.1:c.2069A>G	NP_001341592.1:p.Glu690Gly
NM_001354664.1:c.2066A>G	NP_001341593.1:p.Glu689Gly
XR_001740158.2:n.2857A>G
XR_001740159.2:n.2692A>G
XR_001741072.1:n.601-2819T>C
XR_001741074.1:n.475+7904T>C
XR_924835.2:n.600+6016T>C
NM_001354663.2:c.2069A>G	NP_001341592.1:p.Glu690Gly
NM_001354664.2:c.2066A>G	NP_001341593.1:p.Glu689Gly
NM_130831.3:c.2330A>G	NP_570844.1:p.Glu777Gly
NM_130832.3:c.2384A>G	NP_570845.1:p.Glu795Gly
NM_130834.3:c.2492A>G	NP_570847.2:p.Glu831Gly
NM_130836.3:c.2549A>G	NP_570849.2:p.Glu850Gly
NM_015560.3:c.2438A>G	NP_056375.2:p.Glu813Gly
NM_130833.3:c.2441A>G	NP_570846.1:p.Glu814Gly
NM_130835.3:c.2495A>G	NP_570848.1:p.Glu832Gly
NM_130837.3:c.2603A>G MANE Select	NP_570850.2:p.Glu868Gly