Canonical Allele Identifier: CA1430233497

Gene: OPA1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193667186A= , CM000665.2:g.193667186A=	GRCh38
NC_000003.11:g.193384975A= , CM000665.1:g.193384975A=	GRCh37
NC_000003.10:g.194867669A=	NCBI36
NG_011605.1:g.79043A= , LRG_337:g.79043A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361510.8:c.2889A= MANE Select	ENSP00000355324.2:p.Lys963=
ENST00000361828.7:c.2724A=	ENSP00000354429.3:p.Lys908=
ENST00000361908.8:c.2835A=	ENSP00000354681.3:p.Lys945=
ENST00000392436.7:c.2724A=	ENSP00000376231.3:p.Lys908=
ENST00000392437.6:c.2778A=	ENSP00000376232.2:p.Lys926=
ENST00000642289.1:c.2663A=
ENST00000642445.1:c.2724A=	ENSP00000495535.1:p.Lys908=
ENST00000642593.1:c.*949A=	ENSP00000494273.1:n.*949A=
ENST00000643329.1:c.2406A=	ENSP00000493673.1:p.Lys802=
ENST00000643737.1:c.*2805A=	ENSP00000494210.1:n.*2805A=
ENST00000644595.1:c.2724A=	ENSP00000494121.1:p.Lys908=
ENST00000644629.1:c.2311A=
ENST00000644841.1:c.*1208A=	ENSP00000493988.1:n.*1208A=
ENST00000644959.1:c.2718A=
ENST00000645553.1:c.2739A=	ENSP00000494725.1:p.Lys913=
ENST00000646085.1:c.*2202A=	ENSP00000494509.1:n.*2202A=
ENST00000646277.1:c.*1325A=	ENSP00000495289.1:n.*1325A=
ENST00000646544.1:c.1712A=
ENST00000646699.1:c.2663A=
ENST00000646793.1:c.2616A=	ENSP00000494512.1:p.Lys872=
ENST00000361150.6:c.2727A=	ENSP00000354781.2:p.Lys909=
ENST00000361510.6:c.2889A=	ENSP00000355324.2:p.Lys963=
ENST00000361715.6:c.2781A=	ENSP00000355311.2:p.Lys927=
ENST00000361828.6:c.2778A=	ENSP00000354429.2:p.Lys926=
ENST00000361908.7:c.2835A=	ENSP00000354681.3:p.Lys945=
ENST00000392438.7:c.2724A=	ENSP00000376233.3:p.Lys908=
ENST00000429164.1:c.11A=
ENST00000445863.1:c.300A=	ENSP00000398358.1:p.Lys100=
NM_015560.2:c.2724A= , LRG_337t1:c.2724A=	NP_056375.2:p.Lys908=
NM_130831.2:c.2616A=	NP_570844.1:p.Lys872=
NM_130832.2:c.2670A=	NP_570845.1:p.Lys890=
NM_130833.2:c.2727A=	NP_570846.1:p.Lys909=
NM_130834.2:c.2778A=	NP_570847.2:p.Lys926=
NM_130835.2:c.2781A=	NP_570848.1:p.Lys927=
NM_130836.2:c.2835A=	NP_570849.2:p.Lys945=
NM_130837.2:c.2889A= , LRG_337t2:c.2889A=	NP_570850.2:p.Lys963=
XM_011512863.1:c.2889A=	XP_011511165.1:p.Lys963=
XM_011512864.1:c.2835A=	XP_011511166.1:p.Lys945=
XM_011512865.1:c.2778A=	XP_011511167.1:p.Lys926=
XM_011512866.1:c.2727A=	XP_011511168.1:p.Lys909=
XM_011512867.1:c.2724A=	XP_011511169.1:p.Lys908=
XM_011512868.1:c.2616A=	XP_011511170.1:p.Lys872=
XR_924835.1:n.582+1734T=
NM_001354663.1:c.2355A=	NP_001341592.1:p.Lys785=
NM_001354664.1:c.2352A=	NP_001341593.1:p.Lys784=
XR_001740158.2:n.3143A=
XR_001740159.2:n.2978A=
XR_001741072.1:n.600+1734T=
XR_001741074.1:n.475+3622T=
XR_924835.2:n.600+1734T=
NM_001354663.2:c.2355A=	NP_001341592.1:p.Lys785=
NM_001354664.2:c.2352A=	NP_001341593.1:p.Lys784=
NM_130831.3:c.2616A=	NP_570844.1:p.Lys872=
NM_130832.3:c.2670A=	NP_570845.1:p.Lys890=
NM_130834.3:c.2778A=	NP_570847.2:p.Lys926=
NM_130836.3:c.2835A=	NP_570849.2:p.Lys945=
NM_015560.3:c.2724A=	NP_056375.2:p.Lys908=
NM_130833.3:c.2727A=	NP_570846.1:p.Lys909=
NM_130835.3:c.2781A=	NP_570848.1:p.Lys927=
NM_130837.3:c.2889A= MANE Select	NP_570850.2:p.Lys963=