Canonical Allele Identifier: CA355789255

Gene: OPA1

Linked Data

• COSMIC: COSM1663217
• MyVariant Identifiers: chr3:g.193361198A>G (hg19) ; chr3:g.193643409A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193643409A>G , CM000665.2:g.193643409A>G	GRCh38
NC_000003.11:g.193361198A>G , CM000665.1:g.193361198A>G	GRCh37
NC_000003.10:g.194843892A>G	NCBI36
NG_011605.1:g.55266A>G , LRG_337:g.55266A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361510.8:c.1342A>G MANE Select	ENSP00000355324.2:p.Arg448Gly
ENST00000361828.7:c.1177A>G	ENSP00000354429.3:p.Arg393Gly
ENST00000361908.8:c.1288A>G	ENSP00000354681.3:p.Arg430Gly
ENST00000392436.7:c.1177A>G	ENSP00000376231.3:p.Arg393Gly
ENST00000392437.6:c.1231A>G	ENSP00000376232.2:p.Arg411Gly
ENST00000642289.1:c.1116A>G
ENST00000642445.1:c.1177A>G	ENSP00000495535.1:p.Arg393Gly
ENST00000642593.1:c.1177A>G	ENSP00000494273.1:p.Arg393Gly
ENST00000643329.1:c.859A>G	ENSP00000493673.1:p.Arg287Gly
ENST00000643737.1:c.*1258A>G	ENSP00000494210.1:n.*1258A>G
ENST00000644595.1:c.1177A>G	ENSP00000494121.1:p.Arg393Gly
ENST00000644629.1:c.837A>G
ENST00000644841.1:c.805A>G	ENSP00000493988.1:p.Arg269Gly
ENST00000644959.1:c.1146A>G
ENST00000645553.1:c.1192A>G	ENSP00000494725.1:p.Arg398Gly
ENST00000646085.1:c.*655A>G	ENSP00000494509.1:n.*655A>G
ENST00000646277.1:c.1342A>G	ENSP00000495289.1:p.Arg448Gly
ENST00000646544.1:c.165A>G
ENST00000646699.1:c.1116A>G
ENST00000646793.1:c.1069A>G	ENSP00000494512.1:p.Arg357Gly
ENST00000361150.6:c.1180A>G	ENSP00000354781.2:p.Arg394Gly
ENST00000361510.6:c.1342A>G	ENSP00000355324.2:p.Arg448Gly
ENST00000361715.6:c.1234A>G	ENSP00000355311.2:p.Arg412Gly
ENST00000361828.6:c.1231A>G	ENSP00000354429.2:p.Arg411Gly
ENST00000361908.7:c.1288A>G	ENSP00000354681.3:p.Arg430Gly
ENST00000392438.7:c.1177A>G	ENSP00000376233.3:p.Arg393Gly
ENST00000475899.1:n.373A>G
NM_015560.2:c.1177A>G , LRG_337t1:c.1177A>G	NP_056375.2:p.Arg393Gly
NM_130831.2:c.1069A>G	NP_570844.1:p.Arg357Gly
NM_130832.2:c.1123A>G	NP_570845.1:p.Arg375Gly
NM_130833.2:c.1180A>G	NP_570846.1:p.Arg394Gly
NM_130834.2:c.1231A>G	NP_570847.2:p.Arg411Gly
NM_130835.2:c.1234A>G	NP_570848.1:p.Arg412Gly
NM_130836.2:c.1288A>G	NP_570849.2:p.Arg430Gly
NM_130837.2:c.1342A>G , LRG_337t2:c.1342A>G	NP_570850.2:p.Arg448Gly
XM_011512863.1:c.1342A>G	XP_011511165.1:p.Arg448Gly
XM_011512864.1:c.1288A>G	XP_011511166.1:p.Arg430Gly
XM_011512865.1:c.1231A>G	XP_011511167.1:p.Arg411Gly
XM_011512866.1:c.1180A>G	XP_011511168.1:p.Arg394Gly
XM_011512867.1:c.1177A>G	XP_011511169.1:p.Arg393Gly
XM_011512868.1:c.1069A>G	XP_011511170.1:p.Arg357Gly
XM_011512869.1:c.1342A>G	XP_011511171.1:p.Arg448Gly
NM_001354663.1:c.808A>G	NP_001341592.1:p.Arg270Gly
NM_001354664.1:c.805A>G	NP_001341593.1:p.Arg269Gly
XR_001740158.2:n.1571A>G
XR_001740159.2:n.1406A>G
NM_001354663.2:c.808A>G	NP_001341592.1:p.Arg270Gly
NM_001354664.2:c.805A>G	NP_001341593.1:p.Arg269Gly
NM_130831.3:c.1069A>G	NP_570844.1:p.Arg357Gly
NM_130832.3:c.1123A>G	NP_570845.1:p.Arg375Gly
NM_130834.3:c.1231A>G	NP_570847.2:p.Arg411Gly
NM_130836.3:c.1288A>G	NP_570849.2:p.Arg430Gly
NM_015560.3:c.1177A>G	NP_056375.2:p.Arg393Gly
NM_130833.3:c.1180A>G	NP_570846.1:p.Arg394Gly
NM_130835.3:c.1234A>G	NP_570848.1:p.Arg412Gly
NM_130837.3:c.1342A>G MANE Select	NP_570850.2:p.Arg448Gly