Canonical Allele Identifier: CA1430233641

Gene: OPA1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193667245T= , CM000665.2:g.193667245T=	GRCh38
NC_000003.11:g.193385034T= , CM000665.1:g.193385034T=	GRCh37
NC_000003.10:g.194867728T=	NCBI36
NG_011605.1:g.79102T= , LRG_337:g.79102T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361510.8:c.2948T= MANE Select	ENSP00000355324.2:p.Leu983=
ENST00000361828.7:c.2783T=	ENSP00000354429.3:p.Leu928=
ENST00000361908.8:c.2894T=	ENSP00000354681.3:p.Leu965=
ENST00000392436.7:c.2783T=	ENSP00000376231.3:p.Leu928=
ENST00000392437.6:c.2837T=	ENSP00000376232.2:p.Leu946=
ENST00000642289.1:c.2722T=
ENST00000642445.1:c.2783T=	ENSP00000495535.1:p.Leu928=
ENST00000642593.1:c.*1008T=	ENSP00000494273.1:n.*1008T=
ENST00000643329.1:c.2465T=	ENSP00000493673.1:p.Leu822=
ENST00000643737.1:c.*2864T=	ENSP00000494210.1:n.*2864T=
ENST00000644595.1:c.2783T=	ENSP00000494121.1:p.Leu928=
ENST00000644629.1:c.2370T=
ENST00000644841.1:c.*1267T=	ENSP00000493988.1:n.*1267T=
ENST00000644959.1:c.2777T=
ENST00000645553.1:c.2798T=	ENSP00000494725.1:p.Leu933=
ENST00000646085.1:c.*2261T=	ENSP00000494509.1:n.*2261T=
ENST00000646277.1:c.*1384T=	ENSP00000495289.1:n.*1384T=
ENST00000646544.1:c.1771T=
ENST00000646699.1:c.2722T=
ENST00000646793.1:c.2675T=	ENSP00000494512.1:p.Leu892=
ENST00000361150.6:c.2786T=	ENSP00000354781.2:p.Leu929=
ENST00000361510.6:c.2948T=	ENSP00000355324.2:p.Leu983=
ENST00000361715.6:c.2840T=	ENSP00000355311.2:p.Leu947=
ENST00000361828.6:c.2837T=	ENSP00000354429.2:p.Leu946=
ENST00000361908.7:c.2894T=	ENSP00000354681.3:p.Leu965=
ENST00000392438.7:c.2783T=	ENSP00000376233.3:p.Leu928=
ENST00000429164.1:c.70T=
ENST00000445863.1:c.359T=	ENSP00000398358.1:p.Leu120=
NM_015560.2:c.2783T= , LRG_337t1:c.2783T=	NP_056375.2:p.Leu928=
NM_130831.2:c.2675T=	NP_570844.1:p.Leu892=
NM_130832.2:c.2729T=	NP_570845.1:p.Leu910=
NM_130833.2:c.2786T=	NP_570846.1:p.Leu929=
NM_130834.2:c.2837T=	NP_570847.2:p.Leu946=
NM_130835.2:c.2840T=	NP_570848.1:p.Leu947=
NM_130836.2:c.2894T=	NP_570849.2:p.Leu965=
NM_130837.2:c.2948T= , LRG_337t2:c.2948T=	NP_570850.2:p.Leu983=
XM_011512863.1:c.2948T=	XP_011511165.1:p.Leu983=
XM_011512864.1:c.2894T=	XP_011511166.1:p.Leu965=
XM_011512865.1:c.2837T=	XP_011511167.1:p.Leu946=
XM_011512866.1:c.2786T=	XP_011511168.1:p.Leu929=
XM_011512867.1:c.2783T=	XP_011511169.1:p.Leu928=
XM_011512868.1:c.2675T=	XP_011511170.1:p.Leu892=
XR_924835.1:n.582+1675A=
NM_001354663.1:c.2414T=	NP_001341592.1:p.Leu805=
NM_001354664.1:c.2411T=	NP_001341593.1:p.Leu804=
XR_001740158.2:n.3202T=
XR_001740159.2:n.3037T=
XR_001741072.1:n.600+1675A=
XR_001741074.1:n.475+3563A=
XR_924835.2:n.600+1675A=
NM_001354663.2:c.2414T=	NP_001341592.1:p.Leu805=
NM_001354664.2:c.2411T=	NP_001341593.1:p.Leu804=
NM_130831.3:c.2675T=	NP_570844.1:p.Leu892=
NM_130832.3:c.2729T=	NP_570845.1:p.Leu910=
NM_130834.3:c.2837T=	NP_570847.2:p.Leu946=
NM_130836.3:c.2894T=	NP_570849.2:p.Leu965=
NM_015560.3:c.2783T=	NP_056375.2:p.Leu928=
NM_130833.3:c.2786T=	NP_570846.1:p.Leu929=
NM_130835.3:c.2840T=	NP_570848.1:p.Leu947=
NM_130837.3:c.2948T= MANE Select	NP_570850.2:p.Leu983=