Canonical Allele Identifier: CA2759710

Gene: OPA1

Linked Data

• dbSNP Id: rs761296644
• ExAC: 3:193380730 A / C
• gnomAD v2: 3-193380730-A-C
• MyVariant Identifiers: chr3:g.193380730A>C (hg19) ; chr3:g.193662941A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193662941A>C , CM000665.2:g.193662941A>C	GRCh38
NC_000003.11:g.193380730A>C , CM000665.1:g.193380730A>C	GRCh37
NC_000003.10:g.194863424A>C	NCBI36
NG_011605.1:g.74798A>C , LRG_337:g.74798A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361510.8:c.2640A>C MANE Select	ENSP00000355324.2:p.Gly880=
ENST00000361828.7:c.2475A>C	ENSP00000354429.3:p.Gly825=
ENST00000361908.8:c.2586A>C	ENSP00000354681.3:p.Gly862=
ENST00000392436.7:c.2475A>C	ENSP00000376231.3:p.Gly825=
ENST00000392437.6:c.2529A>C	ENSP00000376232.2:p.Gly843=
ENST00000642289.1:c.2414A>C
ENST00000642445.1:c.2475A>C	ENSP00000495535.1:p.Gly825=
ENST00000642593.1:c.*700A>C	ENSP00000494273.1:n.*700A>C
ENST00000643329.1:c.2157A>C	ENSP00000493673.1:p.Gly719=
ENST00000643737.1:c.*2556A>C	ENSP00000494210.1:n.*2556A>C
ENST00000644595.1:c.2475A>C	ENSP00000494121.1:p.Gly825=
ENST00000644629.1:c.2062A>C
ENST00000644841.1:c.*959A>C	ENSP00000493988.1:n.*959A>C
ENST00000644959.1:c.2469A>C
ENST00000645553.1:c.2490A>C	ENSP00000494725.1:p.Gly830=
ENST00000646085.1:c.*1953A>C	ENSP00000494509.1:n.*1953A>C
ENST00000646277.1:c.*1076A>C	ENSP00000495289.1:n.*1076A>C
ENST00000646544.1:c.1463A>C
ENST00000646699.1:c.2414A>C
ENST00000646793.1:c.2367A>C	ENSP00000494512.1:p.Gly789=
ENST00000361150.6:c.2478A>C	ENSP00000354781.2:p.Gly826=
ENST00000361510.6:c.2640A>C	ENSP00000355324.2:p.Gly880=
ENST00000361715.6:c.2532A>C	ENSP00000355311.2:p.Gly844=
ENST00000361828.6:c.2529A>C	ENSP00000354429.2:p.Gly843=
ENST00000361908.7:c.2586A>C	ENSP00000354681.3:p.Gly862=
ENST00000392438.7:c.2475A>C	ENSP00000376233.3:p.Gly825=
ENST00000445863.1:c.51A>C	ENSP00000398358.1:p.Gly17=
NM_015560.2:c.2475A>C , LRG_337t1:c.2475A>C	NP_056375.2:p.Gly825=
NM_130831.2:c.2367A>C	NP_570844.1:p.Gly789=
NM_130832.2:c.2421A>C	NP_570845.1:p.Gly807=
NM_130833.2:c.2478A>C	NP_570846.1:p.Gly826=
NM_130834.2:c.2529A>C	NP_570847.2:p.Gly843=
NM_130835.2:c.2532A>C	NP_570848.1:p.Gly844=
NM_130836.2:c.2586A>C	NP_570849.2:p.Gly862=
NM_130837.2:c.2640A>C , LRG_337t2:c.2640A>C	NP_570850.2:p.Gly880=
XM_011512863.1:c.2640A>C	XP_011511165.1:p.Gly880=
XM_011512864.1:c.2586A>C	XP_011511166.1:p.Gly862=
XM_011512865.1:c.2529A>C	XP_011511167.1:p.Gly843=
XM_011512866.1:c.2478A>C	XP_011511168.1:p.Gly826=
XM_011512867.1:c.2475A>C	XP_011511169.1:p.Gly825=
XM_011512868.1:c.2367A>C	XP_011511170.1:p.Gly789=
XR_924835.1:n.582+5979T>G
NM_001354663.1:c.2106A>C	NP_001341592.1:p.Gly702=
NM_001354664.1:c.2103A>C	NP_001341593.1:p.Gly701=
XR_001740158.2:n.2894A>C
XR_001740159.2:n.2729A>C
XR_001741072.1:n.601-2856T>G
XR_001741074.1:n.475+7867T>G
XR_924835.2:n.600+5979T>G
NM_001354663.2:c.2106A>C	NP_001341592.1:p.Gly702=
NM_001354664.2:c.2103A>C	NP_001341593.1:p.Gly701=
NM_130831.3:c.2367A>C	NP_570844.1:p.Gly789=
NM_130832.3:c.2421A>C	NP_570845.1:p.Gly807=
NM_130834.3:c.2529A>C	NP_570847.2:p.Gly843=
NM_130836.3:c.2586A>C	NP_570849.2:p.Gly862=
NM_015560.3:c.2475A>C	NP_056375.2:p.Gly825=
NM_130833.3:c.2478A>C	NP_570846.1:p.Gly826=
NM_130835.3:c.2532A>C	NP_570848.1:p.Gly844=
NM_130837.3:c.2640A>C MANE Select	NP_570850.2:p.Gly880=