Canonical Allele Identifier: CA355793014

Gene: OPA1

Linked Data

• MyVariant Identifiers: chr3:g.193380619C>A (hg19) ; chr3:g.193662830C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193662830C>A , CM000665.2:g.193662830C>A	GRCh38
NC_000003.11:g.193380619C>A , CM000665.1:g.193380619C>A	GRCh37
NC_000003.10:g.194863313C>A	NCBI36
NG_011605.1:g.74687C>A , LRG_337:g.74687C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361510.8:c.2529C>A MANE Select	ENSP00000355324.2:p.His843Gln
ENST00000361828.7:c.2364C>A	ENSP00000354429.3:p.His788Gln
ENST00000361908.8:c.2475C>A	ENSP00000354681.3:p.His825Gln
ENST00000392436.7:c.2364C>A	ENSP00000376231.3:p.His788Gln
ENST00000392437.6:c.2418C>A	ENSP00000376232.2:p.His806Gln
ENST00000642289.1:c.2303C>A
ENST00000642445.1:c.2364C>A	ENSP00000495535.1:p.His788Gln
ENST00000642593.1:c.*589C>A	ENSP00000494273.1:n.*589C>A
ENST00000643329.1:c.2046C>A	ENSP00000493673.1:p.His682Gln
ENST00000643737.1:c.*2445C>A	ENSP00000494210.1:n.*2445C>A
ENST00000644595.1:c.2364C>A	ENSP00000494121.1:p.His788Gln
ENST00000644629.1:c.1951C>A
ENST00000644841.1:c.*848C>A	ENSP00000493988.1:n.*848C>A
ENST00000644959.1:c.2358C>A
ENST00000645553.1:c.2379C>A	ENSP00000494725.1:p.His793Gln
ENST00000646085.1:c.*1842C>A	ENSP00000494509.1:n.*1842C>A
ENST00000646277.1:c.*965C>A	ENSP00000495289.1:n.*965C>A
ENST00000646544.1:c.1352C>A
ENST00000646699.1:c.2303C>A
ENST00000646793.1:c.2256C>A	ENSP00000494512.1:p.His752Gln
ENST00000361150.6:c.2367C>A	ENSP00000354781.2:p.His789Gln
ENST00000361510.6:c.2529C>A	ENSP00000355324.2:p.His843Gln
ENST00000361715.6:c.2421C>A	ENSP00000355311.2:p.His807Gln
ENST00000361828.6:c.2418C>A	ENSP00000354429.2:p.His806Gln
ENST00000361908.7:c.2475C>A	ENSP00000354681.3:p.His825Gln
ENST00000392438.7:c.2364C>A	ENSP00000376233.3:p.His788Gln
NM_015560.2:c.2364C>A , LRG_337t1:c.2364C>A	NP_056375.2:p.His788Gln
NM_130831.2:c.2256C>A	NP_570844.1:p.His752Gln
NM_130832.2:c.2310C>A	NP_570845.1:p.His770Gln
NM_130833.2:c.2367C>A	NP_570846.1:p.His789Gln
NM_130834.2:c.2418C>A	NP_570847.2:p.His806Gln
NM_130835.2:c.2421C>A	NP_570848.1:p.His807Gln
NM_130836.2:c.2475C>A	NP_570849.2:p.His825Gln
NM_130837.2:c.2529C>A , LRG_337t2:c.2529C>A	NP_570850.2:p.His843Gln
XM_011512863.1:c.2529C>A	XP_011511165.1:p.His843Gln
XM_011512864.1:c.2475C>A	XP_011511166.1:p.His825Gln
XM_011512865.1:c.2418C>A	XP_011511167.1:p.His806Gln
XM_011512866.1:c.2367C>A	XP_011511168.1:p.His789Gln
XM_011512867.1:c.2364C>A	XP_011511169.1:p.His788Gln
XM_011512868.1:c.2256C>A	XP_011511170.1:p.His752Gln
XR_924835.1:n.582+6090G>T
NM_001354663.1:c.1995C>A	NP_001341592.1:p.His665Gln
NM_001354664.1:c.1992C>A	NP_001341593.1:p.His664Gln
XR_001740158.2:n.2783C>A
XR_001740159.2:n.2618C>A
XR_001741072.1:n.601-2745G>T
XR_001741074.1:n.475+7978G>T
XR_924835.2:n.600+6090G>T
NM_001354663.2:c.1995C>A	NP_001341592.1:p.His665Gln
NM_001354664.2:c.1992C>A	NP_001341593.1:p.His664Gln
NM_130831.3:c.2256C>A	NP_570844.1:p.His752Gln
NM_130832.3:c.2310C>A	NP_570845.1:p.His770Gln
NM_130834.3:c.2418C>A	NP_570847.2:p.His806Gln
NM_130836.3:c.2475C>A	NP_570849.2:p.His825Gln
NM_015560.3:c.2364C>A	NP_056375.2:p.His788Gln
NM_130833.3:c.2367C>A	NP_570846.1:p.His789Gln
NM_130835.3:c.2421C>A	NP_570848.1:p.His807Gln
NM_130837.3:c.2529C>A MANE Select	NP_570850.2:p.His843Gln