Canonical Allele Identifier: CA2759521

Gene: OPA1

Linked Data

• dbSNP Id: rs754022891
• ExAC: 3:193365904 G / A
• gnomAD v2: 3-193365904-G-A
• gnomAD v3: 3-193648115-G-A
• gnomAD v4: 3-193648115-G-A
• MyVariant Identifiers: chr3:g.193365904G>A (hg19) ; chr3:g.193648115G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193648115G>A , CM000665.2:g.193648115G>A	GRCh38
NC_000003.11:g.193365904G>A , CM000665.1:g.193365904G>A	GRCh37
NC_000003.10:g.194848598G>A	NCBI36
NG_011605.1:g.59972G>A , LRG_337:g.59972G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000361510.8:c.1916G>A MANE Select	ENSP00000355324.2:p.Arg639His
ENST00000361828.7:c.1751G>A	ENSP00000354429.3:p.Arg584His
ENST00000361908.8:c.1862G>A	ENSP00000354681.3:p.Arg621His
ENST00000392436.7:c.1751G>A	ENSP00000376231.3:p.Arg584His
ENST00000392437.6:c.1805G>A	ENSP00000376232.2:p.Arg602His
ENST00000642289.1:c.1690G>A
ENST00000642445.1:c.1751G>A	ENSP00000495535.1:p.Arg584His
ENST00000642593.1:c.1706-680G>A	ENSP00000494273.1:n.1706-680G>A
ENST00000643329.1:c.1433G>A	ENSP00000493673.1:p.Arg478His
ENST00000643737.1:c.*1832G>A	ENSP00000494210.1:n.*1832G>A
ENST00000644595.1:c.1751G>A	ENSP00000494121.1:p.Arg584His
ENST00000644629.1:c.1338G>A
ENST00000644841.1:c.*235G>A	ENSP00000493988.1:n.*235G>A
ENST00000644959.1:c.1720G>A
ENST00000645553.1:c.1766G>A	ENSP00000494725.1:p.Arg589His
ENST00000646085.1:c.*1229G>A	ENSP00000494509.1:n.*1229G>A
ENST00000646277.1:c.*352G>A	ENSP00000495289.1:n.*352G>A
ENST00000646544.1:c.739G>A
ENST00000646699.1:c.1690G>A
ENST00000646793.1:c.1643G>A	ENSP00000494512.1:p.Arg548His
ENST00000361150.6:c.1754G>A	ENSP00000354781.2:p.Arg585His
ENST00000361510.6:c.1916G>A	ENSP00000355324.2:p.Arg639His
ENST00000361715.6:c.1808G>A	ENSP00000355311.2:p.Arg603His
ENST00000361828.6:c.1805G>A	ENSP00000354429.2:p.Arg602His
ENST00000361908.7:c.1862G>A	ENSP00000354681.3:p.Arg621His
ENST00000392438.7:c.1751G>A	ENSP00000376233.3:p.Arg584His
ENST00000483516.1:n.249G>A
NM_015560.2:c.1751G>A , LRG_337t1:c.1751G>A	NP_056375.2:p.Arg584His
NM_130831.2:c.1643G>A	NP_570844.1:p.Arg548His
NM_130832.2:c.1697G>A	NP_570845.1:p.Arg566His
NM_130833.2:c.1754G>A	NP_570846.1:p.Arg585His
NM_130834.2:c.1805G>A	NP_570847.2:p.Arg602His
NM_130835.2:c.1808G>A	NP_570848.1:p.Arg603His
NM_130836.2:c.1862G>A	NP_570849.2:p.Arg621His
NM_130837.2:c.1916G>A , LRG_337t2:c.1916G>A	NP_570850.2:p.Arg639His
XM_011512863.1:c.1916G>A	XP_011511165.1:p.Arg639His
XM_011512864.1:c.1862G>A	XP_011511166.1:p.Arg621His
XM_011512865.1:c.1805G>A	XP_011511167.1:p.Arg602His
XM_011512866.1:c.1754G>A	XP_011511168.1:p.Arg585His
XM_011512867.1:c.1751G>A	XP_011511169.1:p.Arg584His
XM_011512868.1:c.1643G>A	XP_011511170.1:p.Arg548His
XM_011512869.1:c.1916G>A	XP_011511171.1:p.Arg639His
XR_924835.1:n.583-805C>T
NM_001354663.1:c.1382G>A	NP_001341592.1:p.Arg461His
NM_001354664.1:c.1379G>A	NP_001341593.1:p.Arg460His
XR_001740158.2:n.2145G>A
XR_001740159.2:n.1980G>A
XR_001741074.1:n.476-805C>T
XR_924835.2:n.601-805C>T
NM_001354663.2:c.1382G>A	NP_001341592.1:p.Arg461His
NM_001354664.2:c.1379G>A	NP_001341593.1:p.Arg460His
NM_130831.3:c.1643G>A	NP_570844.1:p.Arg548His
NM_130832.3:c.1697G>A	NP_570845.1:p.Arg566His
NM_130834.3:c.1805G>A	NP_570847.2:p.Arg602His
NM_130836.3:c.1862G>A	NP_570849.2:p.Arg621His
NM_015560.3:c.1751G>A	NP_056375.2:p.Arg584His
NM_130833.3:c.1754G>A	NP_570846.1:p.Arg585His
NM_130835.3:c.1808G>A	NP_570848.1:p.Arg603His
NM_130837.3:c.1916G>A MANE Select	NP_570850.2:p.Arg639His