Canonical Allele Identifier: CA1430245836

Gene: OPA1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193643996G= , CM000665.2:g.193643996G=	GRCh38
NC_000003.11:g.193361785G= , CM000665.1:g.193361785G=	GRCh37
NC_000003.10:g.194844479G=	NCBI36
NG_011605.1:g.55853G= , LRG_337:g.55853G=

Transcript Alleles

HGVS	Amino-acid Change
NM_130837.3:c.1499G= MANE Select	NP_570850.2:p.Arg500=
ENST00000361510.8:c.1499G= MANE Select	ENSP00000355324.2:p.Arg500=
NM_001354663.1:c.965G=	NP_001341592.1:p.Arg322=
NM_001354663.2:c.965G=	NP_001341592.1:p.Arg322=
NM_001354664.1:c.962G=	NP_001341593.1:p.Arg321=
NM_001354664.2:c.962G=	NP_001341593.1:p.Arg321=
NM_015560.2:c.1334G= , LRG_337t1:c.1334G=	NP_056375.2:p.Arg445=
NM_015560.3:c.1334G=	NP_056375.2:p.Arg445=
NM_130831.2:c.1226G=	NP_570844.1:p.Arg409=
NM_130831.3:c.1226G=	NP_570844.1:p.Arg409=
NM_130832.2:c.1280G=	NP_570845.1:p.Arg427=
NM_130832.3:c.1280G=	NP_570845.1:p.Arg427=
NM_130833.2:c.1337G=	NP_570846.1:p.Arg446=
NM_130833.3:c.1337G=	NP_570846.1:p.Arg446=
NM_130834.2:c.1388G=	NP_570847.2:p.Arg463=
NM_130834.3:c.1388G=	NP_570847.2:p.Arg463=
NM_130835.2:c.1391G=	NP_570848.1:p.Arg464=
NM_130835.3:c.1391G=	NP_570848.1:p.Arg464=
NM_130836.2:c.1445G=	NP_570849.2:p.Arg482=
NM_130836.3:c.1445G=	NP_570849.2:p.Arg482=
NM_130837.2:c.1499G= , LRG_337t2:c.1499G=	NP_570850.2:p.Arg500=
ENST00000361150.6:c.1337G=	ENSP00000354781.2:p.Arg446=
ENST00000361510.6:c.1499G=	ENSP00000355324.2:p.Arg500=
ENST00000361715.6:c.1391G=	ENSP00000355311.2:p.Arg464=
ENST00000361828.6:c.1388G=	ENSP00000354429.2:p.Arg463=
ENST00000361828.7:c.1334G=	ENSP00000354429.3:p.Arg445=
ENST00000361908.7:c.1445G=	ENSP00000354681.3:p.Arg482=
ENST00000361908.8:c.1445G=	ENSP00000354681.3:p.Arg482=
ENST00000392436.7:c.1334G=	ENSP00000376231.3:p.Arg445=
ENST00000392437.6:c.1388G=	ENSP00000376232.2:p.Arg463=
ENST00000392438.7:c.1334G=	ENSP00000376233.3:p.Arg445=
ENST00000475899.1:n.530G=
ENST00000642289.1:c.1273G=
ENST00000642445.1:c.1334G=	ENSP00000495535.1:p.Arg445=
ENST00000642593.1:c.1334G=	ENSP00000494273.1:p.Arg445=
ENST00000643329.1:c.1016G=	ENSP00000493673.1:p.Arg339=
ENST00000643737.1:c.*1415G=	ENSP00000494210.1:n.*1415G=
ENST00000644595.1:c.1334G=	ENSP00000494121.1:p.Arg445=
ENST00000644629.1:c.994G=
ENST00000644841.1:c.962G=	ENSP00000493988.1:p.Arg321=
ENST00000644959.1:c.1303G=
ENST00000645553.1:c.1349G=	ENSP00000494725.1:p.Arg450=
ENST00000646085.1:c.*812G=	ENSP00000494509.1:n.*812G=
ENST00000646277.1:c.1522G=	ENSP00000495289.1:p.Ala508=
ENST00000646544.1:c.322G=
ENST00000646699.1:c.1273G=
ENST00000646793.1:c.1226G=	ENSP00000494512.1:p.Arg409=
XM_011512863.1:c.1499G=	XP_011511165.1:p.Arg500=
XM_011512864.1:c.1445G=	XP_011511166.1:p.Arg482=
XM_011512865.1:c.1388G=	XP_011511167.1:p.Arg463=
XM_011512866.1:c.1337G=	XP_011511168.1:p.Arg446=
XM_011512867.1:c.1334G=	XP_011511169.1:p.Arg445=
XM_011512868.1:c.1226G=	XP_011511170.1:p.Arg409=
XM_011512869.1:c.1499G=	XP_011511171.1:p.Arg500=
XR_001740158.2:n.1728G=
XR_001740159.2:n.1563G=