Canonical Allele Identifier: CA1430236811

Gene: OPA1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193638065G= , CM000665.2:g.193638065G=	GRCh38
NC_000003.11:g.193355854G= , CM000665.1:g.193355854G=	GRCh37
NC_000003.10:g.194838548G=	NCBI36
NG_011605.1:g.49922G= , LRG_337:g.49922G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361510.8:c.1149G= MANE Select	ENSP00000355324.2:p.Lys383=
ENST00000361828.7:c.984G=	ENSP00000354429.3:p.Lys328=
ENST00000361908.8:c.1095G=	ENSP00000354681.3:p.Lys365=
ENST00000392436.7:c.984G=	ENSP00000376231.3:p.Lys328=
ENST00000392437.6:c.1038G=	ENSP00000376232.2:p.Lys346=
ENST00000642289.1:c.1079G=
ENST00000642445.1:c.984G=	ENSP00000495535.1:p.Lys328=
ENST00000642593.1:c.984G=	ENSP00000494273.1:p.Lys328=
ENST00000643329.1:c.666G=	ENSP00000493673.1:p.Lys222=
ENST00000643737.1:c.*1065G=	ENSP00000494210.1:n.*1065G=
ENST00000644595.1:c.984G=	ENSP00000494121.1:p.Lys328=
ENST00000644629.1:c.644G=
ENST00000644841.1:c.612G=	ENSP00000493988.1:p.Lys204=
ENST00000644959.1:c.953G=
ENST00000645553.1:c.999G=	ENSP00000494725.1:p.Lys333=
ENST00000646085.1:c.*462G=	ENSP00000494509.1:n.*462G=
ENST00000646277.1:c.1149G=	ENSP00000495289.1:p.Lys383=
ENST00000646544.1:c.47G=
ENST00000646699.1:c.1079G=
ENST00000646793.1:c.876G=	ENSP00000494512.1:p.Lys292=
ENST00000361150.6:c.987G=	ENSP00000354781.2:p.Lys329=
ENST00000361510.6:c.1149G=	ENSP00000355324.2:p.Lys383=
ENST00000361715.6:c.1041G=	ENSP00000355311.2:p.Lys347=
ENST00000361828.6:c.1038G=	ENSP00000354429.2:p.Lys346=
ENST00000361908.7:c.1095G=	ENSP00000354681.3:p.Lys365=
ENST00000392438.7:c.984G=	ENSP00000376233.3:p.Lys328=
ENST00000475899.1:n.180G=
ENST00000497189.5:n.470G=
NM_015560.2:c.984G= , LRG_337t1:c.984G=	NP_056375.2:p.Lys328=
NM_130831.2:c.876G=	NP_570844.1:p.Lys292=
NM_130832.2:c.930G=	NP_570845.1:p.Lys310=
NM_130833.2:c.987G=	NP_570846.1:p.Lys329=
NM_130834.2:c.1038G=	NP_570847.2:p.Lys346=
NM_130835.2:c.1041G=	NP_570848.1:p.Lys347=
NM_130836.2:c.1095G=	NP_570849.2:p.Lys365=
NM_130837.2:c.1149G= , LRG_337t2:c.1149G=	NP_570850.2:p.Lys383=
XM_011512863.1:c.1149G=	XP_011511165.1:p.Lys383=
XM_011512864.1:c.1095G=	XP_011511166.1:p.Lys365=
XM_011512865.1:c.1038G=	XP_011511167.1:p.Lys346=
XM_011512866.1:c.987G=	XP_011511168.1:p.Lys329=
XM_011512867.1:c.984G=	XP_011511169.1:p.Lys328=
XM_011512868.1:c.876G=	XP_011511170.1:p.Lys292=
XM_011512869.1:c.1149G=	XP_011511171.1:p.Lys383=
NM_001354663.1:c.615G=	NP_001341592.1:p.Lys205=
NM_001354664.1:c.612G=	NP_001341593.1:p.Lys204=
XR_001740158.2:n.1378G=
XR_001740159.2:n.1213G=
NM_001354663.2:c.615G=	NP_001341592.1:p.Lys205=
NM_001354664.2:c.612G=	NP_001341593.1:p.Lys204=
NM_130831.3:c.876G=	NP_570844.1:p.Lys292=
NM_130832.3:c.930G=	NP_570845.1:p.Lys310=
NM_130834.3:c.1038G=	NP_570847.2:p.Lys346=
NM_130836.3:c.1095G=	NP_570849.2:p.Lys365=
NM_015560.3:c.984G=	NP_056375.2:p.Lys328=
NM_130833.3:c.987G=	NP_570846.1:p.Lys329=
NM_130835.3:c.1041G=	NP_570848.1:p.Lys347=
NM_130837.3:c.1149G= MANE Select	NP_570850.2:p.Lys383=