Canonical Allele Identifier: CA1430244735

Gene: OPA1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193643381C= , CM000665.2:g.193643381C=	GRCh38
NC_000003.11:g.193361170C= , CM000665.1:g.193361170C=	GRCh37
NC_000003.10:g.194843864C=	NCBI36
NG_011605.1:g.55238C= , LRG_337:g.55238C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361510.8:c.1314C= MANE Select	ENSP00000355324.2:p.Ser438=
ENST00000361828.7:c.1149C=	ENSP00000354429.3:p.Ser383=
ENST00000361908.8:c.1260C=	ENSP00000354681.3:p.Ser420=
ENST00000392436.7:c.1149C=	ENSP00000376231.3:p.Ser383=
ENST00000392437.6:c.1203C=	ENSP00000376232.2:p.Ser401=
ENST00000642289.1:c.1088C=
ENST00000642445.1:c.1149C=	ENSP00000495535.1:p.Ser383=
ENST00000642593.1:c.1149C=	ENSP00000494273.1:p.Ser383=
ENST00000643329.1:c.831C=	ENSP00000493673.1:p.Ser277=
ENST00000643737.1:c.*1230C=	ENSP00000494210.1:n.*1230C=
ENST00000644595.1:c.1149C=	ENSP00000494121.1:p.Ser383=
ENST00000644629.1:c.809C=
ENST00000644841.1:c.777C=	ENSP00000493988.1:p.Ser259=
ENST00000644959.1:c.1118C=
ENST00000645553.1:c.1164C=	ENSP00000494725.1:p.Ser388=
ENST00000646085.1:c.*627C=	ENSP00000494509.1:n.*627C=
ENST00000646277.1:c.1314C=	ENSP00000495289.1:p.Ser438=
ENST00000646544.1:c.137C=
ENST00000646699.1:c.1088C=
ENST00000646793.1:c.1041C=	ENSP00000494512.1:p.Ser347=
ENST00000361150.6:c.1152C=	ENSP00000354781.2:p.Ser384=
ENST00000361510.6:c.1314C=	ENSP00000355324.2:p.Ser438=
ENST00000361715.6:c.1206C=	ENSP00000355311.2:p.Ser402=
ENST00000361828.6:c.1203C=	ENSP00000354429.2:p.Ser401=
ENST00000361908.7:c.1260C=	ENSP00000354681.3:p.Ser420=
ENST00000392438.7:c.1149C=	ENSP00000376233.3:p.Ser383=
ENST00000475899.1:n.345C=
NM_015560.2:c.1149C= , LRG_337t1:c.1149C=	NP_056375.2:p.Ser383=
NM_130831.2:c.1041C=	NP_570844.1:p.Ser347=
NM_130832.2:c.1095C=	NP_570845.1:p.Ser365=
NM_130833.2:c.1152C=	NP_570846.1:p.Ser384=
NM_130834.2:c.1203C=	NP_570847.2:p.Ser401=
NM_130835.2:c.1206C=	NP_570848.1:p.Ser402=
NM_130836.2:c.1260C=	NP_570849.2:p.Ser420=
NM_130837.2:c.1314C= , LRG_337t2:c.1314C=	NP_570850.2:p.Ser438=
XM_011512863.1:c.1314C=	XP_011511165.1:p.Ser438=
XM_011512864.1:c.1260C=	XP_011511166.1:p.Ser420=
XM_011512865.1:c.1203C=	XP_011511167.1:p.Ser401=
XM_011512866.1:c.1152C=	XP_011511168.1:p.Ser384=
XM_011512867.1:c.1149C=	XP_011511169.1:p.Ser383=
XM_011512868.1:c.1041C=	XP_011511170.1:p.Ser347=
XM_011512869.1:c.1314C=	XP_011511171.1:p.Ser438=
NM_001354663.1:c.780C=	NP_001341592.1:p.Ser260=
NM_001354664.1:c.777C=	NP_001341593.1:p.Ser259=
XR_001740158.2:n.1543C=
XR_001740159.2:n.1378C=
NM_001354663.2:c.780C=	NP_001341592.1:p.Ser260=
NM_001354664.2:c.777C=	NP_001341593.1:p.Ser259=
NM_130831.3:c.1041C=	NP_570844.1:p.Ser347=
NM_130832.3:c.1095C=	NP_570845.1:p.Ser365=
NM_130834.3:c.1203C=	NP_570847.2:p.Ser401=
NM_130836.3:c.1260C=	NP_570849.2:p.Ser420=
NM_015560.3:c.1149C=	NP_056375.2:p.Ser383=
NM_130833.3:c.1152C=	NP_570846.1:p.Ser384=
NM_130835.3:c.1206C=	NP_570848.1:p.Ser402=
NM_130837.3:c.1314C= MANE Select	NP_570850.2:p.Ser438=