Canonical Allele Identifier: CA1430270634

Gene: OPA1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193662868G= , CM000665.2:g.193662868G=	GRCh38
NC_000003.11:g.193380657G= , CM000665.1:g.193380657G=	GRCh37
NC_000003.10:g.194863351G=	NCBI36
NG_011605.1:g.74725G= , LRG_337:g.74725G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361510.8:c.2567G= MANE Select	ENSP00000355324.2:p.Cys856=
ENST00000361828.7:c.2402G=	ENSP00000354429.3:p.Cys801=
ENST00000361908.8:c.2513G=	ENSP00000354681.3:p.Cys838=
ENST00000392436.7:c.2402G=	ENSP00000376231.3:p.Cys801=
ENST00000392437.6:c.2456G=	ENSP00000376232.2:p.Cys819=
ENST00000642289.1:c.2341G=
ENST00000642445.1:c.2402G=	ENSP00000495535.1:p.Cys801=
ENST00000642593.1:c.*627G=	ENSP00000494273.1:n.*627G=
ENST00000643329.1:c.2084G=	ENSP00000493673.1:p.Cys695=
ENST00000643737.1:c.*2483G=	ENSP00000494210.1:n.*2483G=
ENST00000644595.1:c.2402G=	ENSP00000494121.1:p.Cys801=
ENST00000644629.1:c.1989G=
ENST00000644841.1:c.*886G=	ENSP00000493988.1:n.*886G=
ENST00000644959.1:c.2396G=
ENST00000645553.1:c.2417G=	ENSP00000494725.1:p.Cys806=
ENST00000646085.1:c.*1880G=	ENSP00000494509.1:n.*1880G=
ENST00000646277.1:c.*1003G=	ENSP00000495289.1:n.*1003G=
ENST00000646544.1:c.1390G=
ENST00000646699.1:c.2341G=
ENST00000646793.1:c.2294G=	ENSP00000494512.1:p.Cys765=
ENST00000361150.6:c.2405G=	ENSP00000354781.2:p.Cys802=
ENST00000361510.6:c.2567G=	ENSP00000355324.2:p.Cys856=
ENST00000361715.6:c.2459G=	ENSP00000355311.2:p.Cys820=
ENST00000361828.6:c.2456G=	ENSP00000354429.2:p.Cys819=
ENST00000361908.7:c.2513G=	ENSP00000354681.3:p.Cys838=
ENST00000392438.7:c.2402G=	ENSP00000376233.3:p.Cys801=
NM_015560.2:c.2402G= , LRG_337t1:c.2402G=	NP_056375.2:p.Cys801=
NM_130831.2:c.2294G=	NP_570844.1:p.Cys765=
NM_130832.2:c.2348G=	NP_570845.1:p.Cys783=
NM_130833.2:c.2405G=	NP_570846.1:p.Cys802=
NM_130834.2:c.2456G=	NP_570847.2:p.Cys819=
NM_130835.2:c.2459G=	NP_570848.1:p.Cys820=
NM_130836.2:c.2513G=	NP_570849.2:p.Cys838=
NM_130837.2:c.2567G= , LRG_337t2:c.2567G=	NP_570850.2:p.Cys856=
XM_011512863.1:c.2567G=	XP_011511165.1:p.Cys856=
XM_011512864.1:c.2513G=	XP_011511166.1:p.Cys838=
XM_011512865.1:c.2456G=	XP_011511167.1:p.Cys819=
XM_011512866.1:c.2405G=	XP_011511168.1:p.Cys802=
XM_011512867.1:c.2402G=	XP_011511169.1:p.Cys801=
XM_011512868.1:c.2294G=	XP_011511170.1:p.Cys765=
XR_924835.1:n.582+6052C=
NM_001354663.1:c.2033G=	NP_001341592.1:p.Cys678=
NM_001354664.1:c.2030G=	NP_001341593.1:p.Cys677=
XR_001740158.2:n.2821G=
XR_001740159.2:n.2656G=
XR_001741072.1:n.601-2783C=
XR_001741074.1:n.475+7940C=
XR_924835.2:n.600+6052C=
NM_001354663.2:c.2033G=	NP_001341592.1:p.Cys678=
NM_001354664.2:c.2030G=	NP_001341593.1:p.Cys677=
NM_130831.3:c.2294G=	NP_570844.1:p.Cys765=
NM_130832.3:c.2348G=	NP_570845.1:p.Cys783=
NM_130834.3:c.2456G=	NP_570847.2:p.Cys819=
NM_130836.3:c.2513G=	NP_570849.2:p.Cys838=
NM_015560.3:c.2402G=	NP_056375.2:p.Cys801=
NM_130833.3:c.2405G=	NP_570846.1:p.Cys802=
NM_130835.3:c.2459G=	NP_570848.1:p.Cys820=
NM_130837.3:c.2567G= MANE Select	NP_570850.2:p.Cys856=