Canonical Allele Identifier: CA1430244767

Gene: OPA1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193643402A= , CM000665.2:g.193643402A=	GRCh38
NC_000003.11:g.193361191A= , CM000665.1:g.193361191A=	GRCh37
NC_000003.10:g.194843885A=	NCBI36
NG_011605.1:g.55259A= , LRG_337:g.55259A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361510.8:c.1335A= MANE Select	ENSP00000355324.2:p.Gly445=
ENST00000361828.7:c.1170A=	ENSP00000354429.3:p.Gly390=
ENST00000361908.8:c.1281A=	ENSP00000354681.3:p.Gly427=
ENST00000392436.7:c.1170A=	ENSP00000376231.3:p.Gly390=
ENST00000392437.6:c.1224A=	ENSP00000376232.2:p.Gly408=
ENST00000642289.1:c.1109A=
ENST00000642445.1:c.1170A=	ENSP00000495535.1:p.Gly390=
ENST00000642593.1:c.1170A=	ENSP00000494273.1:p.Gly390=
ENST00000643329.1:c.852A=	ENSP00000493673.1:p.Gly284=
ENST00000643737.1:c.*1251A=	ENSP00000494210.1:n.*1251A=
ENST00000644595.1:c.1170A=	ENSP00000494121.1:p.Gly390=
ENST00000644629.1:c.830A=
ENST00000644841.1:c.798A=	ENSP00000493988.1:p.Gly266=
ENST00000644959.1:c.1139A=
ENST00000645553.1:c.1185A=	ENSP00000494725.1:p.Gly395=
ENST00000646085.1:c.*648A=	ENSP00000494509.1:n.*648A=
ENST00000646277.1:c.1335A=	ENSP00000495289.1:p.Gly445=
ENST00000646544.1:c.158A=
ENST00000646699.1:c.1109A=
ENST00000646793.1:c.1062A=	ENSP00000494512.1:p.Gly354=
ENST00000361150.6:c.1173A=	ENSP00000354781.2:p.Gly391=
ENST00000361510.6:c.1335A=	ENSP00000355324.2:p.Gly445=
ENST00000361715.6:c.1227A=	ENSP00000355311.2:p.Gly409=
ENST00000361828.6:c.1224A=	ENSP00000354429.2:p.Gly408=
ENST00000361908.7:c.1281A=	ENSP00000354681.3:p.Gly427=
ENST00000392438.7:c.1170A=	ENSP00000376233.3:p.Gly390=
ENST00000475899.1:n.366A=
NM_015560.2:c.1170A= , LRG_337t1:c.1170A=	NP_056375.2:p.Gly390=
NM_130831.2:c.1062A=	NP_570844.1:p.Gly354=
NM_130832.2:c.1116A=	NP_570845.1:p.Gly372=
NM_130833.2:c.1173A=	NP_570846.1:p.Gly391=
NM_130834.2:c.1224A=	NP_570847.2:p.Gly408=
NM_130835.2:c.1227A=	NP_570848.1:p.Gly409=
NM_130836.2:c.1281A=	NP_570849.2:p.Gly427=
NM_130837.2:c.1335A= , LRG_337t2:c.1335A=	NP_570850.2:p.Gly445=
XM_011512863.1:c.1335A=	XP_011511165.1:p.Gly445=
XM_011512864.1:c.1281A=	XP_011511166.1:p.Gly427=
XM_011512865.1:c.1224A=	XP_011511167.1:p.Gly408=
XM_011512866.1:c.1173A=	XP_011511168.1:p.Gly391=
XM_011512867.1:c.1170A=	XP_011511169.1:p.Gly390=
XM_011512868.1:c.1062A=	XP_011511170.1:p.Gly354=
XM_011512869.1:c.1335A=	XP_011511171.1:p.Gly445=
NM_001354663.1:c.801A=	NP_001341592.1:p.Gly267=
NM_001354664.1:c.798A=	NP_001341593.1:p.Gly266=
XR_001740158.2:n.1564A=
XR_001740159.2:n.1399A=
NM_001354663.2:c.801A=	NP_001341592.1:p.Gly267=
NM_001354664.2:c.798A=	NP_001341593.1:p.Gly266=
NM_130831.3:c.1062A=	NP_570844.1:p.Gly354=
NM_130832.3:c.1116A=	NP_570845.1:p.Gly372=
NM_130834.3:c.1224A=	NP_570847.2:p.Gly408=
NM_130836.3:c.1281A=	NP_570849.2:p.Gly427=
NM_015560.3:c.1170A=	NP_056375.2:p.Gly390=
NM_130833.3:c.1173A=	NP_570846.1:p.Gly391=
NM_130835.3:c.1227A=	NP_570848.1:p.Gly409=
NM_130837.3:c.1335A= MANE Select	NP_570850.2:p.Gly445=