Canonical Allele Identifier: CA355788828

Gene: OPA1

Linked Data

• MyVariant Identifiers: chr3:g.193360577C>G (hg19) ; chr3:g.193642788C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193642788C>G , CM000665.2:g.193642788C>G	GRCh38
NC_000003.11:g.193360577C>G , CM000665.1:g.193360577C>G	GRCh37
NC_000003.10:g.194843271C>G	NCBI36
NG_011605.1:g.54645C>G , LRG_337:g.54645C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361510.8:c.1173C>G MANE Select	ENSP00000355324.2:p.His391Gln
ENST00000361828.7:c.1008C>G	ENSP00000354429.3:p.His336Gln
ENST00000361908.8:c.1119C>G	ENSP00000354681.3:p.His373Gln
ENST00000392436.7:c.1008C>G	ENSP00000376231.3:p.His336Gln
ENST00000392437.6:c.1062C>G	ENSP00000376232.2:p.His354Gln
ENST00000642289.1:c.1080-585C>G
ENST00000642445.1:c.1008C>G	ENSP00000495535.1:p.His336Gln
ENST00000642593.1:c.1008C>G	ENSP00000494273.1:p.His336Gln
ENST00000643329.1:c.690C>G	ENSP00000493673.1:p.His230Gln
ENST00000643737.1:c.*1089C>G	ENSP00000494210.1:n.*1089C>G
ENST00000644595.1:c.1008C>G	ENSP00000494121.1:p.His336Gln
ENST00000644629.1:c.668C>G
ENST00000644841.1:c.636C>G	ENSP00000493988.1:p.His212Gln
ENST00000644959.1:c.977C>G
ENST00000645553.1:c.1023C>G	ENSP00000494725.1:p.His341Gln
ENST00000646085.1:c.*486C>G	ENSP00000494509.1:n.*486C>G
ENST00000646277.1:c.1173C>G	ENSP00000495289.1:p.His391Gln
ENST00000646544.1:c.71C>G
ENST00000646699.1:c.1080-585C>G
ENST00000646793.1:c.900C>G	ENSP00000494512.1:p.His300Gln
ENST00000361150.6:c.1011C>G	ENSP00000354781.2:p.His337Gln
ENST00000361510.6:c.1173C>G	ENSP00000355324.2:p.His391Gln
ENST00000361715.6:c.1065C>G	ENSP00000355311.2:p.His355Gln
ENST00000361828.6:c.1062C>G	ENSP00000354429.2:p.His354Gln
ENST00000361908.7:c.1119C>G	ENSP00000354681.3:p.His373Gln
ENST00000392438.7:c.1008C>G	ENSP00000376233.3:p.His336Gln
ENST00000475899.1:n.204C>G
ENST00000497189.5:n.494C>G
NM_015560.2:c.1008C>G , LRG_337t1:c.1008C>G	NP_056375.2:p.His336Gln
NM_130831.2:c.900C>G	NP_570844.1:p.His300Gln
NM_130832.2:c.954C>G	NP_570845.1:p.His318Gln
NM_130833.2:c.1011C>G	NP_570846.1:p.His337Gln
NM_130834.2:c.1062C>G	NP_570847.2:p.His354Gln
NM_130835.2:c.1065C>G	NP_570848.1:p.His355Gln
NM_130836.2:c.1119C>G	NP_570849.2:p.His373Gln
NM_130837.2:c.1173C>G , LRG_337t2:c.1173C>G	NP_570850.2:p.His391Gln
XM_011512863.1:c.1173C>G	XP_011511165.1:p.His391Gln
XM_011512864.1:c.1119C>G	XP_011511166.1:p.His373Gln
XM_011512865.1:c.1062C>G	XP_011511167.1:p.His354Gln
XM_011512866.1:c.1011C>G	XP_011511168.1:p.His337Gln
XM_011512867.1:c.1008C>G	XP_011511169.1:p.His336Gln
XM_011512868.1:c.900C>G	XP_011511170.1:p.His300Gln
XM_011512869.1:c.1173C>G	XP_011511171.1:p.His391Gln
NM_001354663.1:c.639C>G	NP_001341592.1:p.His213Gln
NM_001354664.1:c.636C>G	NP_001341593.1:p.His212Gln
XR_001740158.2:n.1402C>G
XR_001740159.2:n.1237C>G
NM_001354663.2:c.639C>G	NP_001341592.1:p.His213Gln
NM_001354664.2:c.636C>G	NP_001341593.1:p.His212Gln
NM_130831.3:c.900C>G	NP_570844.1:p.His300Gln
NM_130832.3:c.954C>G	NP_570845.1:p.His318Gln
NM_130834.3:c.1062C>G	NP_570847.2:p.His354Gln
NM_130836.3:c.1119C>G	NP_570849.2:p.His373Gln
NM_015560.3:c.1008C>G	NP_056375.2:p.His336Gln
NM_130833.3:c.1011C>G	NP_570846.1:p.His337Gln
NM_130835.3:c.1065C>G	NP_570848.1:p.His355Gln
NM_130837.3:c.1173C>G MANE Select	NP_570850.2:p.His391Gln