Canonical Allele Identifier: CA1430250585

Gene: OPA1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193647082C= , CM000665.2:g.193647082C=	GRCh38
NC_000003.11:g.193364871C= , CM000665.1:g.193364871C=	GRCh37
NC_000003.10:g.194847565C=	NCBI36
NG_011605.1:g.58939C= , LRG_337:g.58939C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361510.8:c.1772C= MANE Select	ENSP00000355324.2:p.Ala591=
ENST00000361828.7:c.1607C=	ENSP00000354429.3:p.Ala536=
ENST00000361908.8:c.1718C=	ENSP00000354681.3:p.Ala573=
ENST00000392436.7:c.1607C=	ENSP00000376231.3:p.Ala536=
ENST00000392437.6:c.1661C=	ENSP00000376232.2:p.Ala554=
ENST00000642289.1:c.1546C=
ENST00000642445.1:c.1607C=	ENSP00000495535.1:p.Ala536=
ENST00000642593.1:c.1607C=	ENSP00000494273.1:p.Ala536=
ENST00000643329.1:c.1289C=	ENSP00000493673.1:p.Ala430=
ENST00000643737.1:c.*1688C=	ENSP00000494210.1:n.*1688C=
ENST00000644595.1:c.1607C=	ENSP00000494121.1:p.Ala536=
ENST00000644629.1:c.1194C=
ENST00000644841.1:c.*91C=	ENSP00000493988.1:n.*91C=
ENST00000644959.1:c.1576C=
ENST00000645553.1:c.1622C=	ENSP00000494725.1:p.Ala541=
ENST00000646085.1:c.*1085C=	ENSP00000494509.1:n.*1085C=
ENST00000646277.1:c.*208C=	ENSP00000495289.1:n.*208C=
ENST00000646544.1:c.595C=
ENST00000646699.1:c.1546C=
ENST00000646793.1:c.1499C=	ENSP00000494512.1:p.Ala500=
ENST00000361150.6:c.1610C=	ENSP00000354781.2:p.Ala537=
ENST00000361510.6:c.1772C=	ENSP00000355324.2:p.Ala591=
ENST00000361715.6:c.1664C=	ENSP00000355311.2:p.Ala555=
ENST00000361828.6:c.1661C=	ENSP00000354429.2:p.Ala554=
ENST00000361908.7:c.1718C=	ENSP00000354681.3:p.Ala573=
ENST00000392438.7:c.1607C=	ENSP00000376233.3:p.Ala536=
ENST00000483516.1:n.105C=
NM_015560.2:c.1607C= , LRG_337t1:c.1607C=	NP_056375.2:p.Ala536=
NM_130831.2:c.1499C=	NP_570844.1:p.Ala500=
NM_130832.2:c.1553C=	NP_570845.1:p.Ala518=
NM_130833.2:c.1610C=	NP_570846.1:p.Ala537=
NM_130834.2:c.1661C=	NP_570847.2:p.Ala554=
NM_130835.2:c.1664C=	NP_570848.1:p.Ala555=
NM_130836.2:c.1718C=	NP_570849.2:p.Ala573=
NM_130837.2:c.1772C= , LRG_337t2:c.1772C=	NP_570850.2:p.Ala591=
XM_011512863.1:c.1772C=	XP_011511165.1:p.Ala591=
XM_011512864.1:c.1718C=	XP_011511166.1:p.Ala573=
XM_011512865.1:c.1661C=	XP_011511167.1:p.Ala554=
XM_011512866.1:c.1610C=	XP_011511168.1:p.Ala537=
XM_011512867.1:c.1607C=	XP_011511169.1:p.Ala536=
XM_011512868.1:c.1499C=	XP_011511170.1:p.Ala500=
XM_011512869.1:c.1772C=	XP_011511171.1:p.Ala591=
NM_001354663.1:c.1238C=	NP_001341592.1:p.Ala413=
NM_001354664.1:c.1235C=	NP_001341593.1:p.Ala412=
XR_001740158.2:n.2001C=
XR_001740159.2:n.1836C=
NM_001354663.2:c.1238C=	NP_001341592.1:p.Ala413=
NM_001354664.2:c.1235C=	NP_001341593.1:p.Ala412=
NM_130831.3:c.1499C=	NP_570844.1:p.Ala500=
NM_130832.3:c.1553C=	NP_570845.1:p.Ala518=
NM_130834.3:c.1661C=	NP_570847.2:p.Ala554=
NM_130836.3:c.1718C=	NP_570849.2:p.Ala573=
NM_015560.3:c.1607C=	NP_056375.2:p.Ala536=
NM_130833.3:c.1610C=	NP_570846.1:p.Ala537=
NM_130835.3:c.1664C=	NP_570848.1:p.Ala555=
NM_130837.3:c.1772C= MANE Select	NP_570850.2:p.Ala591=