Canonical Allele Identifier: CA1430244829

Gene: OPA1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193643430C= , CM000665.2:g.193643430C=	GRCh38
NC_000003.11:g.193361219C= , CM000665.1:g.193361219C=	GRCh37
NC_000003.10:g.194843913C=	NCBI36
NG_011605.1:g.55287C= , LRG_337:g.55287C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361510.8:c.1363C= MANE Select	ENSP00000355324.2:p.Pro455=
ENST00000361828.7:c.1198C=	ENSP00000354429.3:p.Pro400=
ENST00000361908.8:c.1309C=	ENSP00000354681.3:p.Pro437=
ENST00000392436.7:c.1198C=	ENSP00000376231.3:p.Pro400=
ENST00000392437.6:c.1252C=	ENSP00000376232.2:p.Pro418=
ENST00000642289.1:c.1137C=
ENST00000642445.1:c.1198C=	ENSP00000495535.1:p.Pro400=
ENST00000642593.1:c.1198C=	ENSP00000494273.1:p.Pro400=
ENST00000643329.1:c.880C=	ENSP00000493673.1:p.Pro294=
ENST00000643737.1:c.*1279C=	ENSP00000494210.1:n.*1279C=
ENST00000644595.1:c.1198C=	ENSP00000494121.1:p.Pro400=
ENST00000644629.1:c.858C=
ENST00000644841.1:c.826C=	ENSP00000493988.1:p.Pro276=
ENST00000644959.1:c.1167C=
ENST00000645553.1:c.1213C=	ENSP00000494725.1:p.Pro405=
ENST00000646085.1:c.*676C=	ENSP00000494509.1:n.*676C=
ENST00000646277.1:c.1363C=	ENSP00000495289.1:p.Pro455=
ENST00000646544.1:c.186C=
ENST00000646699.1:c.1137C=
ENST00000646793.1:c.1090C=	ENSP00000494512.1:p.Pro364=
ENST00000361150.6:c.1201C=	ENSP00000354781.2:p.Pro401=
ENST00000361510.6:c.1363C=	ENSP00000355324.2:p.Pro455=
ENST00000361715.6:c.1255C=	ENSP00000355311.2:p.Pro419=
ENST00000361828.6:c.1252C=	ENSP00000354429.2:p.Pro418=
ENST00000361908.7:c.1309C=	ENSP00000354681.3:p.Pro437=
ENST00000392438.7:c.1198C=	ENSP00000376233.3:p.Pro400=
ENST00000475899.1:n.394C=
NM_015560.2:c.1198C= , LRG_337t1:c.1198C=	NP_056375.2:p.Pro400=
NM_130831.2:c.1090C=	NP_570844.1:p.Pro364=
NM_130832.2:c.1144C=	NP_570845.1:p.Pro382=
NM_130833.2:c.1201C=	NP_570846.1:p.Pro401=
NM_130834.2:c.1252C=	NP_570847.2:p.Pro418=
NM_130835.2:c.1255C=	NP_570848.1:p.Pro419=
NM_130836.2:c.1309C=	NP_570849.2:p.Pro437=
NM_130837.2:c.1363C= , LRG_337t2:c.1363C=	NP_570850.2:p.Pro455=
XM_011512863.1:c.1363C=	XP_011511165.1:p.Pro455=
XM_011512864.1:c.1309C=	XP_011511166.1:p.Pro437=
XM_011512865.1:c.1252C=	XP_011511167.1:p.Pro418=
XM_011512866.1:c.1201C=	XP_011511168.1:p.Pro401=
XM_011512867.1:c.1198C=	XP_011511169.1:p.Pro400=
XM_011512868.1:c.1090C=	XP_011511170.1:p.Pro364=
XM_011512869.1:c.1363C=	XP_011511171.1:p.Pro455=
NM_001354663.1:c.829C=	NP_001341592.1:p.Pro277=
NM_001354664.1:c.826C=	NP_001341593.1:p.Pro276=
XR_001740158.2:n.1592C=
XR_001740159.2:n.1427C=
NM_001354663.2:c.829C=	NP_001341592.1:p.Pro277=
NM_001354664.2:c.826C=	NP_001341593.1:p.Pro276=
NM_130831.3:c.1090C=	NP_570844.1:p.Pro364=
NM_130832.3:c.1144C=	NP_570845.1:p.Pro382=
NM_130834.3:c.1252C=	NP_570847.2:p.Pro418=
NM_130836.3:c.1309C=	NP_570849.2:p.Pro437=
NM_015560.3:c.1198C=	NP_056375.2:p.Pro400=
NM_130833.3:c.1201C=	NP_570846.1:p.Pro401=
NM_130835.3:c.1255C=	NP_570848.1:p.Pro419=
NM_130837.3:c.1363C= MANE Select	NP_570850.2:p.Pro455=