Canonical Allele Identifier: CA355788491

Gene: OPA1

Linked Data

• ClinVar Variation Id: 995146
• ClinVar RCV Id: RCV001289038
• dbSNP Id: rs1475478496
• gnomAD v2: 3-193355841-G-A
• gnomAD v4: 3-193638052-G-A
• MyVariant Identifiers: chr3:g.193355841G>A (hg19) ; chr3:g.193638052G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193638052G>A , CM000665.2:g.193638052G>A	GRCh38
NC_000003.11:g.193355841G>A , CM000665.1:g.193355841G>A	GRCh37
NC_000003.10:g.194838535G>A	NCBI36
NG_011605.1:g.49909G>A , LRG_337:g.49909G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000361510.8:c.1136G>A MANE Select	ENSP00000355324.2:p.Arg379His
ENST00000361828.7:c.971G>A	ENSP00000354429.3:p.Arg324His
ENST00000361908.8:c.1082G>A	ENSP00000354681.3:p.Arg361His
ENST00000392436.7:c.971G>A	ENSP00000376231.3:p.Arg324His
ENST00000392437.6:c.1025G>A	ENSP00000376232.2:p.Arg342His
ENST00000642289.1:c.1066G>A
ENST00000642445.1:c.971G>A	ENSP00000495535.1:p.Arg324His
ENST00000642593.1:c.971G>A	ENSP00000494273.1:p.Arg324His
ENST00000643329.1:c.653G>A	ENSP00000493673.1:p.Arg218His
ENST00000643737.1:c.*1052G>A	ENSP00000494210.1:n.*1052G>A
ENST00000644595.1:c.971G>A	ENSP00000494121.1:p.Arg324His
ENST00000644629.1:c.631G>A
ENST00000644841.1:c.599G>A	ENSP00000493988.1:p.Arg200His
ENST00000644959.1:c.940G>A
ENST00000645553.1:c.986G>A	ENSP00000494725.1:p.Arg329His
ENST00000646085.1:c.*449G>A	ENSP00000494509.1:n.*449G>A
ENST00000646277.1:c.1136G>A	ENSP00000495289.1:p.Arg379His
ENST00000646544.1:c.34G>A
ENST00000646699.1:c.1066G>A
ENST00000646793.1:c.863G>A	ENSP00000494512.1:p.Arg288His
ENST00000361150.6:c.974G>A	ENSP00000354781.2:p.Arg325His
ENST00000361510.6:c.1136G>A	ENSP00000355324.2:p.Arg379His
ENST00000361715.6:c.1028G>A	ENSP00000355311.2:p.Arg343His
ENST00000361828.6:c.1025G>A	ENSP00000354429.2:p.Arg342His
ENST00000361908.7:c.1082G>A	ENSP00000354681.3:p.Arg361His
ENST00000392438.7:c.971G>A	ENSP00000376233.3:p.Arg324His
ENST00000475899.1:n.167G>A
ENST00000497189.5:n.457G>A
NM_015560.2:c.971G>A , LRG_337t1:c.971G>A	NP_056375.2:p.Arg324His
NM_130831.2:c.863G>A	NP_570844.1:p.Arg288His
NM_130832.2:c.917G>A	NP_570845.1:p.Arg306His
NM_130833.2:c.974G>A	NP_570846.1:p.Arg325His
NM_130834.2:c.1025G>A	NP_570847.2:p.Arg342His
NM_130835.2:c.1028G>A	NP_570848.1:p.Arg343His
NM_130836.2:c.1082G>A	NP_570849.2:p.Arg361His
NM_130837.2:c.1136G>A , LRG_337t2:c.1136G>A	NP_570850.2:p.Arg379His
XM_011512863.1:c.1136G>A	XP_011511165.1:p.Arg379His
XM_011512864.1:c.1082G>A	XP_011511166.1:p.Arg361His
XM_011512865.1:c.1025G>A	XP_011511167.1:p.Arg342His
XM_011512866.1:c.974G>A	XP_011511168.1:p.Arg325His
XM_011512867.1:c.971G>A	XP_011511169.1:p.Arg324His
XM_011512868.1:c.863G>A	XP_011511170.1:p.Arg288His
XM_011512869.1:c.1136G>A	XP_011511171.1:p.Arg379His
NM_001354663.1:c.602G>A	NP_001341592.1:p.Arg201His
NM_001354664.1:c.599G>A	NP_001341593.1:p.Arg200His
XR_001740158.2:n.1365G>A
XR_001740159.2:n.1200G>A
NM_001354663.2:c.602G>A	NP_001341592.1:p.Arg201His
NM_001354664.2:c.599G>A	NP_001341593.1:p.Arg200His
NM_130831.3:c.863G>A	NP_570844.1:p.Arg288His
NM_130832.3:c.917G>A	NP_570845.1:p.Arg306His
NM_130834.3:c.1025G>A	NP_570847.2:p.Arg342His
NM_130836.3:c.1082G>A	NP_570849.2:p.Arg361His
NM_015560.3:c.971G>A	NP_056375.2:p.Arg324His
NM_130833.3:c.974G>A	NP_570846.1:p.Arg325His
NM_130835.3:c.1028G>A	NP_570848.1:p.Arg343His
NM_130837.3:c.1136G>A MANE Select	NP_570850.2:p.Arg379His