Canonical Allele Identifier: CA437441602

Gene: OPA1

Linked Data

• gnomAD v4: 3-193662905-A-G
• MyVariant Identifiers: chr3:g.193380694A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193662905A>G , CM000665.2:g.193662905A>G	GRCh38
NC_000003.11:g.193380694A>G , CM000665.1:g.193380694A>G	GRCh37
NC_000003.10:g.194863388A>G	NCBI36
NG_011605.1:g.74762A>G , LRG_337:g.74762A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361510.8:c.2604A>G MANE Select	ENSP00000355324.2:p.Glu868=
ENST00000361828.7:c.2439A>G	ENSP00000354429.3:p.Glu813=
ENST00000361908.8:c.2550A>G	ENSP00000354681.3:p.Glu850=
ENST00000392436.7:c.2439A>G	ENSP00000376231.3:p.Glu813=
ENST00000392437.6:c.2493A>G	ENSP00000376232.2:p.Glu831=
ENST00000642289.1:c.2378A>G
ENST00000642445.1:c.2439A>G	ENSP00000495535.1:p.Glu813=
ENST00000642593.1:c.*664A>G	ENSP00000494273.1:n.*664A>G
ENST00000643329.1:c.2121A>G	ENSP00000493673.1:p.Glu707=
ENST00000643737.1:c.*2520A>G	ENSP00000494210.1:n.*2520A>G
ENST00000644595.1:c.2439A>G	ENSP00000494121.1:p.Glu813=
ENST00000644629.1:c.2026A>G
ENST00000644841.1:c.*923A>G	ENSP00000493988.1:n.*923A>G
ENST00000644959.1:c.2433A>G
ENST00000645553.1:c.2454A>G	ENSP00000494725.1:p.Glu818=
ENST00000646085.1:c.*1917A>G	ENSP00000494509.1:n.*1917A>G
ENST00000646277.1:c.*1040A>G	ENSP00000495289.1:n.*1040A>G
ENST00000646544.1:c.1427A>G
ENST00000646699.1:c.2378A>G
ENST00000646793.1:c.2331A>G	ENSP00000494512.1:p.Glu777=
ENST00000361150.6:c.2442A>G	ENSP00000354781.2:p.Glu814=
ENST00000361510.6:c.2604A>G	ENSP00000355324.2:p.Glu868=
ENST00000361715.6:c.2496A>G	ENSP00000355311.2:p.Glu832=
ENST00000361828.6:c.2493A>G	ENSP00000354429.2:p.Glu831=
ENST00000361908.7:c.2550A>G	ENSP00000354681.3:p.Glu850=
ENST00000392438.7:c.2439A>G	ENSP00000376233.3:p.Glu813=
ENST00000445863.1:c.15A>G	ENSP00000398358.1:p.Glu5=
NM_015560.2:c.2439A>G , LRG_337t1:c.2439A>G	NP_056375.2:p.Glu813=
NM_130831.2:c.2331A>G	NP_570844.1:p.Glu777=
NM_130832.2:c.2385A>G	NP_570845.1:p.Glu795=
NM_130833.2:c.2442A>G	NP_570846.1:p.Glu814=
NM_130834.2:c.2493A>G	NP_570847.2:p.Glu831=
NM_130835.2:c.2496A>G	NP_570848.1:p.Glu832=
NM_130836.2:c.2550A>G	NP_570849.2:p.Glu850=
NM_130837.2:c.2604A>G , LRG_337t2:c.2604A>G	NP_570850.2:p.Glu868=
XM_011512863.1:c.2604A>G	XP_011511165.1:p.Glu868=
XM_011512864.1:c.2550A>G	XP_011511166.1:p.Glu850=
XM_011512865.1:c.2493A>G	XP_011511167.1:p.Glu831=
XM_011512866.1:c.2442A>G	XP_011511168.1:p.Glu814=
XM_011512867.1:c.2439A>G	XP_011511169.1:p.Glu813=
XM_011512868.1:c.2331A>G	XP_011511170.1:p.Glu777=
XR_924835.1:n.582+6015T>C
NM_001354663.1:c.2070A>G	NP_001341592.1:p.Glu690=
NM_001354664.1:c.2067A>G	NP_001341593.1:p.Glu689=
XR_001740158.2:n.2858A>G
XR_001740159.2:n.2693A>G
XR_001741072.1:n.601-2820T>C
XR_001741074.1:n.475+7903T>C
XR_924835.2:n.600+6015T>C
NM_001354663.2:c.2070A>G	NP_001341592.1:p.Glu690=
NM_001354664.2:c.2067A>G	NP_001341593.1:p.Glu689=
NM_130831.3:c.2331A>G	NP_570844.1:p.Glu777=
NM_130832.3:c.2385A>G	NP_570845.1:p.Glu795=
NM_130834.3:c.2493A>G	NP_570847.2:p.Glu831=
NM_130836.3:c.2550A>G	NP_570849.2:p.Glu850=
NM_015560.3:c.2439A>G	NP_056375.2:p.Glu813=
NM_130833.3:c.2442A>G	NP_570846.1:p.Glu814=
NM_130835.3:c.2496A>G	NP_570848.1:p.Glu832=
NM_130837.3:c.2604A>G MANE Select	NP_570850.2:p.Glu868=