Canonical Allele Identifier: CA355793265

Gene: OPA1

Linked Data

• MyVariant Identifiers: chr3:g.193380728G>A (hg19) ; chr3:g.193662939G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193662939G>A , CM000665.2:g.193662939G>A	GRCh38
NC_000003.11:g.193380728G>A , CM000665.1:g.193380728G>A	GRCh37
NC_000003.10:g.194863422G>A	NCBI36
NG_011605.1:g.74796G>A , LRG_337:g.74796G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361510.8:c.2638G>A MANE Select	ENSP00000355324.2:p.Gly880Arg
ENST00000361828.7:c.2473G>A	ENSP00000354429.3:p.Gly825Arg
ENST00000361908.8:c.2584G>A	ENSP00000354681.3:p.Gly862Arg
ENST00000392436.7:c.2473G>A	ENSP00000376231.3:p.Gly825Arg
ENST00000392437.6:c.2527G>A	ENSP00000376232.2:p.Gly843Arg
ENST00000642289.1:c.2412G>A
ENST00000642445.1:c.2473G>A	ENSP00000495535.1:p.Gly825Arg
ENST00000642593.1:c.*698G>A	ENSP00000494273.1:n.*698G>A
ENST00000643329.1:c.2155G>A	ENSP00000493673.1:p.Gly719Arg
ENST00000643737.1:c.*2554G>A	ENSP00000494210.1:n.*2554G>A
ENST00000644595.1:c.2473G>A	ENSP00000494121.1:p.Gly825Arg
ENST00000644629.1:c.2060G>A
ENST00000644841.1:c.*957G>A	ENSP00000493988.1:n.*957G>A
ENST00000644959.1:c.2467G>A
ENST00000645553.1:c.2488G>A	ENSP00000494725.1:p.Gly830Arg
ENST00000646085.1:c.*1951G>A	ENSP00000494509.1:n.*1951G>A
ENST00000646277.1:c.*1074G>A	ENSP00000495289.1:n.*1074G>A
ENST00000646544.1:c.1461G>A
ENST00000646699.1:c.2412G>A
ENST00000646793.1:c.2365G>A	ENSP00000494512.1:p.Gly789Arg
ENST00000361150.6:c.2476G>A	ENSP00000354781.2:p.Gly826Arg
ENST00000361510.6:c.2638G>A	ENSP00000355324.2:p.Gly880Arg
ENST00000361715.6:c.2530G>A	ENSP00000355311.2:p.Gly844Arg
ENST00000361828.6:c.2527G>A	ENSP00000354429.2:p.Gly843Arg
ENST00000361908.7:c.2584G>A	ENSP00000354681.3:p.Gly862Arg
ENST00000392438.7:c.2473G>A	ENSP00000376233.3:p.Gly825Arg
ENST00000445863.1:c.49G>A	ENSP00000398358.1:p.Gly17Arg
NM_015560.2:c.2473G>A , LRG_337t1:c.2473G>A	NP_056375.2:p.Gly825Arg
NM_130831.2:c.2365G>A	NP_570844.1:p.Gly789Arg
NM_130832.2:c.2419G>A	NP_570845.1:p.Gly807Arg
NM_130833.2:c.2476G>A	NP_570846.1:p.Gly826Arg
NM_130834.2:c.2527G>A	NP_570847.2:p.Gly843Arg
NM_130835.2:c.2530G>A	NP_570848.1:p.Gly844Arg
NM_130836.2:c.2584G>A	NP_570849.2:p.Gly862Arg
NM_130837.2:c.2638G>A , LRG_337t2:c.2638G>A	NP_570850.2:p.Gly880Arg
XM_011512863.1:c.2638G>A	XP_011511165.1:p.Gly880Arg
XM_011512864.1:c.2584G>A	XP_011511166.1:p.Gly862Arg
XM_011512865.1:c.2527G>A	XP_011511167.1:p.Gly843Arg
XM_011512866.1:c.2476G>A	XP_011511168.1:p.Gly826Arg
XM_011512867.1:c.2473G>A	XP_011511169.1:p.Gly825Arg
XM_011512868.1:c.2365G>A	XP_011511170.1:p.Gly789Arg
XR_924835.1:n.582+5981C>T
NM_001354663.1:c.2104G>A	NP_001341592.1:p.Gly702Arg
NM_001354664.1:c.2101G>A	NP_001341593.1:p.Gly701Arg
XR_001740158.2:n.2892G>A
XR_001740159.2:n.2727G>A
XR_001741072.1:n.601-2854C>T
XR_001741074.1:n.475+7869C>T
XR_924835.2:n.600+5981C>T
NM_001354663.2:c.2104G>A	NP_001341592.1:p.Gly702Arg
NM_001354664.2:c.2101G>A	NP_001341593.1:p.Gly701Arg
NM_130831.3:c.2365G>A	NP_570844.1:p.Gly789Arg
NM_130832.3:c.2419G>A	NP_570845.1:p.Gly807Arg
NM_130834.3:c.2527G>A	NP_570847.2:p.Gly843Arg
NM_130836.3:c.2584G>A	NP_570849.2:p.Gly862Arg
NM_015560.3:c.2473G>A	NP_056375.2:p.Gly825Arg
NM_130833.3:c.2476G>A	NP_570846.1:p.Gly826Arg
NM_130835.3:c.2530G>A	NP_570848.1:p.Gly844Arg
NM_130837.3:c.2638G>A MANE Select	NP_570850.2:p.Gly880Arg