Canonical Allele Identifier: CA355788808

Gene: OPA1

Linked Data

• MyVariant Identifiers: chr3:g.193360567A>G (hg19) ; chr3:g.193642778A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193642778A>G , CM000665.2:g.193642778A>G	GRCh38
NC_000003.11:g.193360567A>G , CM000665.1:g.193360567A>G	GRCh37
NC_000003.10:g.194843261A>G	NCBI36
NG_011605.1:g.54635A>G , LRG_337:g.54635A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361510.8:c.1163A>G MANE Select	ENSP00000355324.2:p.Glu388Gly
ENST00000361828.7:c.998A>G	ENSP00000354429.3:p.Glu333Gly
ENST00000361908.8:c.1109A>G	ENSP00000354681.3:p.Glu370Gly
ENST00000392436.7:c.998A>G	ENSP00000376231.3:p.Glu333Gly
ENST00000392437.6:c.1052A>G	ENSP00000376232.2:p.Glu351Gly
ENST00000642289.1:c.1080-595A>G
ENST00000642445.1:c.998A>G	ENSP00000495535.1:p.Glu333Gly
ENST00000642593.1:c.998A>G	ENSP00000494273.1:p.Glu333Gly
ENST00000643329.1:c.680A>G	ENSP00000493673.1:p.Glu227Gly
ENST00000643737.1:c.*1079A>G	ENSP00000494210.1:n.*1079A>G
ENST00000644595.1:c.998A>G	ENSP00000494121.1:p.Glu333Gly
ENST00000644629.1:c.658A>G
ENST00000644841.1:c.626A>G	ENSP00000493988.1:p.Glu209Gly
ENST00000644959.1:c.967A>G
ENST00000645553.1:c.1013A>G	ENSP00000494725.1:p.Glu338Gly
ENST00000646085.1:c.*476A>G	ENSP00000494509.1:n.*476A>G
ENST00000646277.1:c.1163A>G	ENSP00000495289.1:p.Glu388Gly
ENST00000646544.1:c.61A>G
ENST00000646699.1:c.1080-595A>G
ENST00000646793.1:c.890A>G	ENSP00000494512.1:p.Glu297Gly
ENST00000361150.6:c.1001A>G	ENSP00000354781.2:p.Glu334Gly
ENST00000361510.6:c.1163A>G	ENSP00000355324.2:p.Glu388Gly
ENST00000361715.6:c.1055A>G	ENSP00000355311.2:p.Glu352Gly
ENST00000361828.6:c.1052A>G	ENSP00000354429.2:p.Glu351Gly
ENST00000361908.7:c.1109A>G	ENSP00000354681.3:p.Glu370Gly
ENST00000392438.7:c.998A>G	ENSP00000376233.3:p.Glu333Gly
ENST00000475899.1:n.194A>G
ENST00000497189.5:n.484A>G
NM_015560.2:c.998A>G , LRG_337t1:c.998A>G	NP_056375.2:p.Glu333Gly
NM_130831.2:c.890A>G	NP_570844.1:p.Glu297Gly
NM_130832.2:c.944A>G	NP_570845.1:p.Glu315Gly
NM_130833.2:c.1001A>G	NP_570846.1:p.Glu334Gly
NM_130834.2:c.1052A>G	NP_570847.2:p.Glu351Gly
NM_130835.2:c.1055A>G	NP_570848.1:p.Glu352Gly
NM_130836.2:c.1109A>G	NP_570849.2:p.Glu370Gly
NM_130837.2:c.1163A>G , LRG_337t2:c.1163A>G	NP_570850.2:p.Glu388Gly
XM_011512863.1:c.1163A>G	XP_011511165.1:p.Glu388Gly
XM_011512864.1:c.1109A>G	XP_011511166.1:p.Glu370Gly
XM_011512865.1:c.1052A>G	XP_011511167.1:p.Glu351Gly
XM_011512866.1:c.1001A>G	XP_011511168.1:p.Glu334Gly
XM_011512867.1:c.998A>G	XP_011511169.1:p.Glu333Gly
XM_011512868.1:c.890A>G	XP_011511170.1:p.Glu297Gly
XM_011512869.1:c.1163A>G	XP_011511171.1:p.Glu388Gly
NM_001354663.1:c.629A>G	NP_001341592.1:p.Glu210Gly
NM_001354664.1:c.626A>G	NP_001341593.1:p.Glu209Gly
XR_001740158.2:n.1392A>G
XR_001740159.2:n.1227A>G
NM_001354663.2:c.629A>G	NP_001341592.1:p.Glu210Gly
NM_001354664.2:c.626A>G	NP_001341593.1:p.Glu209Gly
NM_130831.3:c.890A>G	NP_570844.1:p.Glu297Gly
NM_130832.3:c.944A>G	NP_570845.1:p.Glu315Gly
NM_130834.3:c.1052A>G	NP_570847.2:p.Glu351Gly
NM_130836.3:c.1109A>G	NP_570849.2:p.Glu370Gly
NM_015560.3:c.998A>G	NP_056375.2:p.Glu333Gly
NM_130833.3:c.1001A>G	NP_570846.1:p.Glu334Gly
NM_130835.3:c.1055A>G	NP_570848.1:p.Glu352Gly
NM_130837.3:c.1163A>G MANE Select	NP_570850.2:p.Glu388Gly