Canonical Allele Identifier: CA1430250534

Gene: OPA1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193647070G= , CM000665.2:g.193647070G=	GRCh38
NC_000003.11:g.193364859G= , CM000665.1:g.193364859G=	GRCh37
NC_000003.10:g.194847553G=	NCBI36
NG_011605.1:g.58927G= , LRG_337:g.58927G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361510.8:c.1760G= MANE Select	ENSP00000355324.2:p.Ser587=
ENST00000361828.7:c.1595G=	ENSP00000354429.3:p.Ser532=
ENST00000361908.8:c.1706G=	ENSP00000354681.3:p.Ser569=
ENST00000392436.7:c.1595G=	ENSP00000376231.3:p.Ser532=
ENST00000392437.6:c.1649G=	ENSP00000376232.2:p.Ser550=
ENST00000642289.1:c.1534G=
ENST00000642445.1:c.1595G=	ENSP00000495535.1:p.Ser532=
ENST00000642593.1:c.1595G=	ENSP00000494273.1:p.Ser532=
ENST00000643329.1:c.1277G=	ENSP00000493673.1:p.Ser426=
ENST00000643737.1:c.*1676G=	ENSP00000494210.1:n.*1676G=
ENST00000644595.1:c.1595G=	ENSP00000494121.1:p.Ser532=
ENST00000644629.1:c.1182G=
ENST00000644841.1:c.*79G=	ENSP00000493988.1:n.*79G=
ENST00000644959.1:c.1564G=
ENST00000645553.1:c.1610G=	ENSP00000494725.1:p.Ser537=
ENST00000646085.1:c.*1073G=	ENSP00000494509.1:n.*1073G=
ENST00000646277.1:c.*196G=	ENSP00000495289.1:n.*196G=
ENST00000646544.1:c.583G=
ENST00000646699.1:c.1534G=
ENST00000646793.1:c.1487G=	ENSP00000494512.1:p.Ser496=
ENST00000361150.6:c.1598G=	ENSP00000354781.2:p.Ser533=
ENST00000361510.6:c.1760G=	ENSP00000355324.2:p.Ser587=
ENST00000361715.6:c.1652G=	ENSP00000355311.2:p.Ser551=
ENST00000361828.6:c.1649G=	ENSP00000354429.2:p.Ser550=
ENST00000361908.7:c.1706G=	ENSP00000354681.3:p.Ser569=
ENST00000392438.7:c.1595G=	ENSP00000376233.3:p.Ser532=
ENST00000483516.1:n.93G=
NM_015560.2:c.1595G= , LRG_337t1:c.1595G=	NP_056375.2:p.Ser532=
NM_130831.2:c.1487G=	NP_570844.1:p.Ser496=
NM_130832.2:c.1541G=	NP_570845.1:p.Ser514=
NM_130833.2:c.1598G=	NP_570846.1:p.Ser533=
NM_130834.2:c.1649G=	NP_570847.2:p.Ser550=
NM_130835.2:c.1652G=	NP_570848.1:p.Ser551=
NM_130836.2:c.1706G=	NP_570849.2:p.Ser569=
NM_130837.2:c.1760G= , LRG_337t2:c.1760G=	NP_570850.2:p.Ser587=
XM_011512863.1:c.1760G=	XP_011511165.1:p.Ser587=
XM_011512864.1:c.1706G=	XP_011511166.1:p.Ser569=
XM_011512865.1:c.1649G=	XP_011511167.1:p.Ser550=
XM_011512866.1:c.1598G=	XP_011511168.1:p.Ser533=
XM_011512867.1:c.1595G=	XP_011511169.1:p.Ser532=
XM_011512868.1:c.1487G=	XP_011511170.1:p.Ser496=
XM_011512869.1:c.1760G=	XP_011511171.1:p.Ser587=
NM_001354663.1:c.1226G=	NP_001341592.1:p.Ser409=
NM_001354664.1:c.1223G=	NP_001341593.1:p.Ser408=
XR_001740158.2:n.1989G=
XR_001740159.2:n.1824G=
NM_001354663.2:c.1226G=	NP_001341592.1:p.Ser409=
NM_001354664.2:c.1223G=	NP_001341593.1:p.Ser408=
NM_130831.3:c.1487G=	NP_570844.1:p.Ser496=
NM_130832.3:c.1541G=	NP_570845.1:p.Ser514=
NM_130834.3:c.1649G=	NP_570847.2:p.Ser550=
NM_130836.3:c.1706G=	NP_570849.2:p.Ser569=
NM_015560.3:c.1595G=	NP_056375.2:p.Ser532=
NM_130833.3:c.1598G=	NP_570846.1:p.Ser533=
NM_130835.3:c.1652G=	NP_570848.1:p.Ser551=
NM_130837.3:c.1760G= MANE Select	NP_570850.2:p.Ser587=