Canonical Allele Identifier: CA2759262

Gene: OPA1

Linked Data

• ClinVar Variation Id: 1698189
• ClinVar RCV Id: RCV002269612
• dbSNP Id: rs372878876
• ExAC: 3:193355805 G / A
• gnomAD v2: 3-193355805-G-A
• gnomAD v3: 3-193638016-G-A
• gnomAD v4: 3-193638016-G-A
• MyVariant Identifiers: chr3:g.193355805G>A (hg19) ; chr3:g.193638016G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193638016G>A , CM000665.2:g.193638016G>A	GRCh38
NC_000003.11:g.193355805G>A , CM000665.1:g.193355805G>A	GRCh37
NC_000003.10:g.194838499G>A	NCBI36
NG_011605.1:g.49873G>A , LRG_337:g.49873G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000361510.8:c.1100G>A MANE Select	ENSP00000355324.2:p.Arg367Gln
ENST00000361828.7:c.935G>A	ENSP00000354429.3:p.Arg312Gln
ENST00000361908.8:c.1046G>A	ENSP00000354681.3:p.Arg349Gln
ENST00000392436.7:c.935G>A	ENSP00000376231.3:p.Arg312Gln
ENST00000392437.6:c.989G>A	ENSP00000376232.2:p.Arg330Gln
ENST00000642289.1:c.1030G>A
ENST00000642445.1:c.935G>A	ENSP00000495535.1:p.Arg312Gln
ENST00000642593.1:c.935G>A	ENSP00000494273.1:p.Arg312Gln
ENST00000643329.1:c.617G>A	ENSP00000493673.1:p.Arg206Gln
ENST00000643737.1:c.*1016G>A	ENSP00000494210.1:n.*1016G>A
ENST00000644595.1:c.935G>A	ENSP00000494121.1:p.Arg312Gln
ENST00000644629.1:c.595G>A
ENST00000644841.1:c.563G>A	ENSP00000493988.1:p.Arg188Gln
ENST00000644959.1:c.904G>A
ENST00000645553.1:c.950G>A	ENSP00000494725.1:p.Arg317Gln
ENST00000646085.1:c.*413G>A	ENSP00000494509.1:n.*413G>A
ENST00000646277.1:c.1100G>A	ENSP00000495289.1:p.Arg367Gln
ENST00000646699.1:c.1030G>A
ENST00000646793.1:c.827G>A	ENSP00000494512.1:p.Arg276Gln
ENST00000361150.6:c.938G>A	ENSP00000354781.2:p.Arg313Gln
ENST00000361510.6:c.1100G>A	ENSP00000355324.2:p.Arg367Gln
ENST00000361715.6:c.992G>A	ENSP00000355311.2:p.Arg331Gln
ENST00000361828.6:c.989G>A	ENSP00000354429.2:p.Arg330Gln
ENST00000361908.7:c.1046G>A	ENSP00000354681.3:p.Arg349Gln
ENST00000392438.7:c.935G>A	ENSP00000376233.3:p.Arg312Gln
ENST00000475899.1:n.131G>A
ENST00000495476.1:n.456G>A
ENST00000497189.5:n.421G>A
NM_015560.2:c.935G>A , LRG_337t1:c.935G>A	NP_056375.2:p.Arg312Gln
NM_130831.2:c.827G>A	NP_570844.1:p.Arg276Gln
NM_130832.2:c.881G>A	NP_570845.1:p.Arg294Gln
NM_130833.2:c.938G>A	NP_570846.1:p.Arg313Gln
NM_130834.2:c.989G>A	NP_570847.2:p.Arg330Gln
NM_130835.2:c.992G>A	NP_570848.1:p.Arg331Gln
NM_130836.2:c.1046G>A	NP_570849.2:p.Arg349Gln
NM_130837.2:c.1100G>A , LRG_337t2:c.1100G>A	NP_570850.2:p.Arg367Gln
XM_011512863.1:c.1100G>A	XP_011511165.1:p.Arg367Gln
XM_011512864.1:c.1046G>A	XP_011511166.1:p.Arg349Gln
XM_011512865.1:c.989G>A	XP_011511167.1:p.Arg330Gln
XM_011512866.1:c.938G>A	XP_011511168.1:p.Arg313Gln
XM_011512867.1:c.935G>A	XP_011511169.1:p.Arg312Gln
XM_011512868.1:c.827G>A	XP_011511170.1:p.Arg276Gln
XM_011512869.1:c.1100G>A	XP_011511171.1:p.Arg367Gln
NM_001354663.1:c.566G>A	NP_001341592.1:p.Arg189Gln
NM_001354664.1:c.563G>A	NP_001341593.1:p.Arg188Gln
XR_001740158.2:n.1329G>A
XR_001740159.2:n.1164G>A
NM_001354663.2:c.566G>A	NP_001341592.1:p.Arg189Gln
NM_001354664.2:c.563G>A	NP_001341593.1:p.Arg188Gln
NM_130831.3:c.827G>A	NP_570844.1:p.Arg276Gln
NM_130832.3:c.881G>A	NP_570845.1:p.Arg294Gln
NM_130834.3:c.989G>A	NP_570847.2:p.Arg330Gln
NM_130836.3:c.1046G>A	NP_570849.2:p.Arg349Gln
NM_015560.3:c.935G>A	NP_056375.2:p.Arg312Gln
NM_130833.3:c.938G>A	NP_570846.1:p.Arg313Gln
NM_130835.3:c.992G>A	NP_570848.1:p.Arg331Gln
NM_130837.3:c.1100G>A MANE Select	NP_570850.2:p.Arg367Gln