Canonical Allele Identifier: CA355793282

Gene: OPA1

Linked Data

• MyVariant Identifiers: chr3:g.193380735A>G (hg19) ; chr3:g.193662946A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193662946A>G , CM000665.2:g.193662946A>G	GRCh38
NC_000003.11:g.193380735A>G , CM000665.1:g.193380735A>G	GRCh37
NC_000003.10:g.194863429A>G	NCBI36
NG_011605.1:g.74803A>G , LRG_337:g.74803A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361510.8:c.2645A>G MANE Select	ENSP00000355324.2:p.Glu882Gly
ENST00000361828.7:c.2480A>G	ENSP00000354429.3:p.Glu827Gly
ENST00000361908.8:c.2591A>G	ENSP00000354681.3:p.Glu864Gly
ENST00000392436.7:c.2480A>G	ENSP00000376231.3:p.Glu827Gly
ENST00000392437.6:c.2534A>G	ENSP00000376232.2:p.Glu845Gly
ENST00000642289.1:c.2419A>G
ENST00000642445.1:c.2480A>G	ENSP00000495535.1:p.Glu827Gly
ENST00000642593.1:c.*705A>G	ENSP00000494273.1:n.*705A>G
ENST00000643329.1:c.2162A>G	ENSP00000493673.1:p.Glu721Gly
ENST00000643737.1:c.*2561A>G	ENSP00000494210.1:n.*2561A>G
ENST00000644595.1:c.2480A>G	ENSP00000494121.1:p.Glu827Gly
ENST00000644629.1:c.2067A>G
ENST00000644841.1:c.*964A>G	ENSP00000493988.1:n.*964A>G
ENST00000644959.1:c.2474A>G
ENST00000645553.1:c.2495A>G	ENSP00000494725.1:p.Glu832Gly
ENST00000646085.1:c.*1958A>G	ENSP00000494509.1:n.*1958A>G
ENST00000646277.1:c.*1081A>G	ENSP00000495289.1:n.*1081A>G
ENST00000646544.1:c.1468A>G
ENST00000646699.1:c.2419A>G
ENST00000646793.1:c.2372A>G	ENSP00000494512.1:p.Glu791Gly
ENST00000361150.6:c.2483A>G	ENSP00000354781.2:p.Glu828Gly
ENST00000361510.6:c.2645A>G	ENSP00000355324.2:p.Glu882Gly
ENST00000361715.6:c.2537A>G	ENSP00000355311.2:p.Glu846Gly
ENST00000361828.6:c.2534A>G	ENSP00000354429.2:p.Glu845Gly
ENST00000361908.7:c.2591A>G	ENSP00000354681.3:p.Glu864Gly
ENST00000392438.7:c.2480A>G	ENSP00000376233.3:p.Glu827Gly
ENST00000445863.1:c.56A>G	ENSP00000398358.1:p.Glu19Gly
NM_015560.2:c.2480A>G , LRG_337t1:c.2480A>G	NP_056375.2:p.Glu827Gly
NM_130831.2:c.2372A>G	NP_570844.1:p.Glu791Gly
NM_130832.2:c.2426A>G	NP_570845.1:p.Glu809Gly
NM_130833.2:c.2483A>G	NP_570846.1:p.Glu828Gly
NM_130834.2:c.2534A>G	NP_570847.2:p.Glu845Gly
NM_130835.2:c.2537A>G	NP_570848.1:p.Glu846Gly
NM_130836.2:c.2591A>G	NP_570849.2:p.Glu864Gly
NM_130837.2:c.2645A>G , LRG_337t2:c.2645A>G	NP_570850.2:p.Glu882Gly
XM_011512863.1:c.2645A>G	XP_011511165.1:p.Glu882Gly
XM_011512864.1:c.2591A>G	XP_011511166.1:p.Glu864Gly
XM_011512865.1:c.2534A>G	XP_011511167.1:p.Glu845Gly
XM_011512866.1:c.2483A>G	XP_011511168.1:p.Glu828Gly
XM_011512867.1:c.2480A>G	XP_011511169.1:p.Glu827Gly
XM_011512868.1:c.2372A>G	XP_011511170.1:p.Glu791Gly
XR_924835.1:n.582+5974T>C
NM_001354663.1:c.2111A>G	NP_001341592.1:p.Glu704Gly
NM_001354664.1:c.2108A>G	NP_001341593.1:p.Glu703Gly
XR_001740158.2:n.2899A>G
XR_001740159.2:n.2734A>G
XR_001741072.1:n.601-2861T>C
XR_001741074.1:n.475+7862T>C
XR_924835.2:n.600+5974T>C
NM_001354663.2:c.2111A>G	NP_001341592.1:p.Glu704Gly
NM_001354664.2:c.2108A>G	NP_001341593.1:p.Glu703Gly
NM_130831.3:c.2372A>G	NP_570844.1:p.Glu791Gly
NM_130832.3:c.2426A>G	NP_570845.1:p.Glu809Gly
NM_130834.3:c.2534A>G	NP_570847.2:p.Glu845Gly
NM_130836.3:c.2591A>G	NP_570849.2:p.Glu864Gly
NM_015560.3:c.2480A>G	NP_056375.2:p.Glu827Gly
NM_130833.3:c.2483A>G	NP_570846.1:p.Glu828Gly
NM_130835.3:c.2537A>G	NP_570848.1:p.Glu846Gly
NM_130837.3:c.2645A>G MANE Select	NP_570850.2:p.Glu882Gly