Canonical Allele Identifier: CA355793145

Gene: OPA1

Linked Data

• MyVariant Identifiers: chr3:g.193380670C>A (hg19) ; chr3:g.193662881C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193662881C>A , CM000665.2:g.193662881C>A	GRCh38
NC_000003.11:g.193380670C>A , CM000665.1:g.193380670C>A	GRCh37
NC_000003.10:g.194863364C>A	NCBI36
NG_011605.1:g.74738C>A , LRG_337:g.74738C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361510.8:c.2580C>A MANE Select	ENSP00000355324.2:p.His860Gln
ENST00000361828.7:c.2415C>A	ENSP00000354429.3:p.His805Gln
ENST00000361908.8:c.2526C>A	ENSP00000354681.3:p.His842Gln
ENST00000392436.7:c.2415C>A	ENSP00000376231.3:p.His805Gln
ENST00000392437.6:c.2469C>A	ENSP00000376232.2:p.His823Gln
ENST00000642289.1:c.2354C>A
ENST00000642445.1:c.2415C>A	ENSP00000495535.1:p.His805Gln
ENST00000642593.1:c.*640C>A	ENSP00000494273.1:n.*640C>A
ENST00000643329.1:c.2097C>A	ENSP00000493673.1:p.His699Gln
ENST00000643737.1:c.*2496C>A	ENSP00000494210.1:n.*2496C>A
ENST00000644595.1:c.2415C>A	ENSP00000494121.1:p.His805Gln
ENST00000644629.1:c.2002C>A
ENST00000644841.1:c.*899C>A	ENSP00000493988.1:n.*899C>A
ENST00000644959.1:c.2409C>A
ENST00000645553.1:c.2430C>A	ENSP00000494725.1:p.His810Gln
ENST00000646085.1:c.*1893C>A	ENSP00000494509.1:n.*1893C>A
ENST00000646277.1:c.*1016C>A	ENSP00000495289.1:n.*1016C>A
ENST00000646544.1:c.1403C>A
ENST00000646699.1:c.2354C>A
ENST00000646793.1:c.2307C>A	ENSP00000494512.1:p.His769Gln
ENST00000361150.6:c.2418C>A	ENSP00000354781.2:p.His806Gln
ENST00000361510.6:c.2580C>A	ENSP00000355324.2:p.His860Gln
ENST00000361715.6:c.2472C>A	ENSP00000355311.2:p.His824Gln
ENST00000361828.6:c.2469C>A	ENSP00000354429.2:p.His823Gln
ENST00000361908.7:c.2526C>A	ENSP00000354681.3:p.His842Gln
ENST00000392438.7:c.2415C>A	ENSP00000376233.3:p.His805Gln
NM_015560.2:c.2415C>A , LRG_337t1:c.2415C>A	NP_056375.2:p.His805Gln
NM_130831.2:c.2307C>A	NP_570844.1:p.His769Gln
NM_130832.2:c.2361C>A	NP_570845.1:p.His787Gln
NM_130833.2:c.2418C>A	NP_570846.1:p.His806Gln
NM_130834.2:c.2469C>A	NP_570847.2:p.His823Gln
NM_130835.2:c.2472C>A	NP_570848.1:p.His824Gln
NM_130836.2:c.2526C>A	NP_570849.2:p.His842Gln
NM_130837.2:c.2580C>A , LRG_337t2:c.2580C>A	NP_570850.2:p.His860Gln
XM_011512863.1:c.2580C>A	XP_011511165.1:p.His860Gln
XM_011512864.1:c.2526C>A	XP_011511166.1:p.His842Gln
XM_011512865.1:c.2469C>A	XP_011511167.1:p.His823Gln
XM_011512866.1:c.2418C>A	XP_011511168.1:p.His806Gln
XM_011512867.1:c.2415C>A	XP_011511169.1:p.His805Gln
XM_011512868.1:c.2307C>A	XP_011511170.1:p.His769Gln
XR_924835.1:n.582+6039G>T
NM_001354663.1:c.2046C>A	NP_001341592.1:p.His682Gln
NM_001354664.1:c.2043C>A	NP_001341593.1:p.His681Gln
XR_001740158.2:n.2834C>A
XR_001740159.2:n.2669C>A
XR_001741072.1:n.601-2796G>T
XR_001741074.1:n.475+7927G>T
XR_924835.2:n.600+6039G>T
NM_001354663.2:c.2046C>A	NP_001341592.1:p.His682Gln
NM_001354664.2:c.2043C>A	NP_001341593.1:p.His681Gln
NM_130831.3:c.2307C>A	NP_570844.1:p.His769Gln
NM_130832.3:c.2361C>A	NP_570845.1:p.His787Gln
NM_130834.3:c.2469C>A	NP_570847.2:p.His823Gln
NM_130836.3:c.2526C>A	NP_570849.2:p.His842Gln
NM_015560.3:c.2415C>A	NP_056375.2:p.His805Gln
NM_130833.3:c.2418C>A	NP_570846.1:p.His806Gln
NM_130835.3:c.2472C>A	NP_570848.1:p.His824Gln
NM_130837.3:c.2580C>A MANE Select	NP_570850.2:p.His860Gln