Canonical Allele Identifier: CA355789599

Gene: OPA1

Linked Data

• ClinVar Variation Id: 2203481
• ClinVar RCV Id: RCV002651774
• MyVariant Identifiers: chr3:g.193361383C>T (hg19) ; chr3:g.193643594C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193643594C>T , CM000665.2:g.193643594C>T	GRCh38
NC_000003.11:g.193361383C>T , CM000665.1:g.193361383C>T	GRCh37
NC_000003.10:g.194844077C>T	NCBI36
NG_011605.1:g.55451C>T , LRG_337:g.55451C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361510.8:c.1444C>T MANE Select	ENSP00000355324.2:p.Gln482Ter
ENST00000361828.7:c.1279C>T	ENSP00000354429.3:p.Gln427Ter
ENST00000361908.8:c.1390C>T	ENSP00000354681.3:p.Gln464Ter
ENST00000392436.7:c.1279C>T	ENSP00000376231.3:p.Gln427Ter
ENST00000392437.6:c.1333C>T	ENSP00000376232.2:p.Gln445Ter
ENST00000642289.1:c.1218C>T
ENST00000642445.1:c.1279C>T	ENSP00000495535.1:p.Gln427Ter
ENST00000642593.1:c.1279C>T	ENSP00000494273.1:p.Gln427Ter
ENST00000643329.1:c.961C>T	ENSP00000493673.1:p.Gln321Ter
ENST00000643737.1:c.*1360C>T	ENSP00000494210.1:n.*1360C>T
ENST00000644595.1:c.1279C>T	ENSP00000494121.1:p.Gln427Ter
ENST00000644629.1:c.939C>T
ENST00000644841.1:c.907C>T	ENSP00000493988.1:p.Gln303Ter
ENST00000644959.1:c.1248C>T
ENST00000645553.1:c.1294C>T	ENSP00000494725.1:p.Gln432Ter
ENST00000646085.1:c.*757C>T	ENSP00000494509.1:n.*757C>T
ENST00000646277.1:c.1444C>T	ENSP00000495289.1:p.Gln482Ter
ENST00000646544.1:c.267C>T
ENST00000646699.1:c.1218C>T
ENST00000646793.1:c.1171C>T	ENSP00000494512.1:p.Gln391Ter
ENST00000361150.6:c.1282C>T	ENSP00000354781.2:p.Gln428Ter
ENST00000361510.6:c.1444C>T	ENSP00000355324.2:p.Gln482Ter
ENST00000361715.6:c.1336C>T	ENSP00000355311.2:p.Gln446Ter
ENST00000361828.6:c.1333C>T	ENSP00000354429.2:p.Gln445Ter
ENST00000361908.7:c.1390C>T	ENSP00000354681.3:p.Gln464Ter
ENST00000392438.7:c.1279C>T	ENSP00000376233.3:p.Gln427Ter
ENST00000475899.1:n.475C>T
NM_015560.2:c.1279C>T , LRG_337t1:c.1279C>T	NP_056375.2:p.Gln427Ter
NM_130831.2:c.1171C>T	NP_570844.1:p.Gln391Ter
NM_130832.2:c.1225C>T	NP_570845.1:p.Gln409Ter
NM_130833.2:c.1282C>T	NP_570846.1:p.Gln428Ter
NM_130834.2:c.1333C>T	NP_570847.2:p.Gln445Ter
NM_130835.2:c.1336C>T	NP_570848.1:p.Gln446Ter
NM_130836.2:c.1390C>T	NP_570849.2:p.Gln464Ter
NM_130837.2:c.1444C>T , LRG_337t2:c.1444C>T	NP_570850.2:p.Gln482Ter
XM_011512863.1:c.1444C>T	XP_011511165.1:p.Gln482Ter
XM_011512864.1:c.1390C>T	XP_011511166.1:p.Gln464Ter
XM_011512865.1:c.1333C>T	XP_011511167.1:p.Gln445Ter
XM_011512866.1:c.1282C>T	XP_011511168.1:p.Gln428Ter
XM_011512867.1:c.1279C>T	XP_011511169.1:p.Gln427Ter
XM_011512868.1:c.1171C>T	XP_011511170.1:p.Gln391Ter
XM_011512869.1:c.1444C>T	XP_011511171.1:p.Gln482Ter
NM_001354663.1:c.910C>T	NP_001341592.1:p.Gln304Ter
NM_001354664.1:c.907C>T	NP_001341593.1:p.Gln303Ter
XR_001740158.2:n.1673C>T
XR_001740159.2:n.1508C>T
NM_001354663.2:c.910C>T	NP_001341592.1:p.Gln304Ter
NM_001354664.2:c.907C>T	NP_001341593.1:p.Gln303Ter
NM_130831.3:c.1171C>T	NP_570844.1:p.Gln391Ter
NM_130832.3:c.1225C>T	NP_570845.1:p.Gln409Ter
NM_130834.3:c.1333C>T	NP_570847.2:p.Gln445Ter
NM_130836.3:c.1390C>T	NP_570849.2:p.Gln464Ter
NM_015560.3:c.1279C>T	NP_056375.2:p.Gln427Ter
NM_130833.3:c.1282C>T	NP_570846.1:p.Gln428Ter
NM_130835.3:c.1336C>T	NP_570848.1:p.Gln446Ter
NM_130837.3:c.1444C>T MANE Select	NP_570850.2:p.Gln482Ter