Canonical Allele Identifier: CA355788190

Gene: OPA1

Linked Data

• MyVariant Identifiers: chr3:g.193355759C>G (hg19) ; chr3:g.193637970C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193637970C>G , CM000665.2:g.193637970C>G	GRCh38
NC_000003.11:g.193355759C>G , CM000665.1:g.193355759C>G	GRCh37
NC_000003.10:g.194838453C>G	NCBI36
NG_011605.1:g.49827C>G , LRG_337:g.49827C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000361510.8:c.1054C>G MANE Select	ENSP00000355324.2:p.Gln352Glu
ENST00000361828.7:c.889C>G	ENSP00000354429.3:p.Gln297Glu
ENST00000361908.8:c.1000C>G	ENSP00000354681.3:p.Gln334Glu
ENST00000392436.7:c.889C>G	ENSP00000376231.3:p.Gln297Glu
ENST00000392437.6:c.943C>G	ENSP00000376232.2:p.Gln315Glu
ENST00000642289.1:c.984C>G
ENST00000642445.1:c.889C>G	ENSP00000495535.1:p.Gln297Glu
ENST00000642593.1:c.889C>G	ENSP00000494273.1:p.Gln297Glu
ENST00000643329.1:c.571C>G	ENSP00000493673.1:p.Gln191Glu
ENST00000643737.1:c.*970C>G	ENSP00000494210.1:n.*970C>G
ENST00000644595.1:c.889C>G	ENSP00000494121.1:p.Gln297Glu
ENST00000644629.1:c.549C>G
ENST00000644841.1:c.517C>G	ENSP00000493988.1:p.Gln173Glu
ENST00000644959.1:c.858C>G
ENST00000645553.1:c.904C>G	ENSP00000494725.1:p.Gln302Glu
ENST00000646085.1:c.*367C>G	ENSP00000494509.1:n.*367C>G
ENST00000646277.1:c.1054C>G	ENSP00000495289.1:p.Gln352Glu
ENST00000646699.1:c.984C>G
ENST00000646793.1:c.781C>G	ENSP00000494512.1:p.Gln261Glu
ENST00000361150.6:c.892C>G	ENSP00000354781.2:p.Gln298Glu
ENST00000361510.6:c.1054C>G	ENSP00000355324.2:p.Gln352Glu
ENST00000361715.6:c.946C>G	ENSP00000355311.2:p.Gln316Glu
ENST00000361828.6:c.943C>G	ENSP00000354429.2:p.Gln315Glu
ENST00000361908.7:c.1000C>G	ENSP00000354681.3:p.Gln334Glu
ENST00000392438.7:c.889C>G	ENSP00000376233.3:p.Gln297Glu
ENST00000475899.1:n.85C>G
ENST00000495476.1:n.410C>G
ENST00000497189.5:n.375C>G
NM_015560.2:c.889C>G , LRG_337t1:c.889C>G	NP_056375.2:p.Gln297Glu
NM_130831.2:c.781C>G	NP_570844.1:p.Gln261Glu
NM_130832.2:c.835C>G	NP_570845.1:p.Gln279Glu
NM_130833.2:c.892C>G	NP_570846.1:p.Gln298Glu
NM_130834.2:c.943C>G	NP_570847.2:p.Gln315Glu
NM_130835.2:c.946C>G	NP_570848.1:p.Gln316Glu
NM_130836.2:c.1000C>G	NP_570849.2:p.Gln334Glu
NM_130837.2:c.1054C>G , LRG_337t2:c.1054C>G	NP_570850.2:p.Gln352Glu
XM_011512863.1:c.1054C>G	XP_011511165.1:p.Gln352Glu
XM_011512864.1:c.1000C>G	XP_011511166.1:p.Gln334Glu
XM_011512865.1:c.943C>G	XP_011511167.1:p.Gln315Glu
XM_011512866.1:c.892C>G	XP_011511168.1:p.Gln298Glu
XM_011512867.1:c.889C>G	XP_011511169.1:p.Gln297Glu
XM_011512868.1:c.781C>G	XP_011511170.1:p.Gln261Glu
XM_011512869.1:c.1054C>G	XP_011511171.1:p.Gln352Glu
NM_001354663.1:c.520C>G	NP_001341592.1:p.Gln174Glu
NM_001354664.1:c.517C>G	NP_001341593.1:p.Gln173Glu
XR_001740158.2:n.1283C>G
XR_001740159.2:n.1118C>G
NM_001354663.2:c.520C>G	NP_001341592.1:p.Gln174Glu
NM_001354664.2:c.517C>G	NP_001341593.1:p.Gln173Glu
NM_130831.3:c.781C>G	NP_570844.1:p.Gln261Glu
NM_130832.3:c.835C>G	NP_570845.1:p.Gln279Glu
NM_130834.3:c.943C>G	NP_570847.2:p.Gln315Glu
NM_130836.3:c.1000C>G	NP_570849.2:p.Gln334Glu
NM_015560.3:c.889C>G	NP_056375.2:p.Gln297Glu
NM_130833.3:c.892C>G	NP_570846.1:p.Gln298Glu
NM_130835.3:c.946C>G	NP_570848.1:p.Gln316Glu
NM_130837.3:c.1054C>G MANE Select	NP_570850.2:p.Gln352Glu