Canonical Allele Identifier: CA355789199

Gene: OPA1

Linked Data

• dbSNP Id: rs1560373320
• gnomAD v4: 3-193643398-C-G
• MyVariant Identifiers: chr3:g.193361187C>G (hg19) ; chr3:g.193643398C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193643398C>G , CM000665.2:g.193643398C>G	GRCh38
NC_000003.11:g.193361187C>G , CM000665.1:g.193361187C>G	GRCh37
NC_000003.10:g.194843881C>G	NCBI36
NG_011605.1:g.55255C>G , LRG_337:g.55255C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361510.8:c.1331C>G MANE Select	ENSP00000355324.2:p.Pro444Arg
ENST00000361828.7:c.1166C>G	ENSP00000354429.3:p.Pro389Arg
ENST00000361908.8:c.1277C>G	ENSP00000354681.3:p.Pro426Arg
ENST00000392436.7:c.1166C>G	ENSP00000376231.3:p.Pro389Arg
ENST00000392437.6:c.1220C>G	ENSP00000376232.2:p.Pro407Arg
ENST00000642289.1:c.1105C>G
ENST00000642445.1:c.1166C>G	ENSP00000495535.1:p.Pro389Arg
ENST00000642593.1:c.1166C>G	ENSP00000494273.1:p.Pro389Arg
ENST00000643329.1:c.848C>G	ENSP00000493673.1:p.Pro283Arg
ENST00000643737.1:c.*1247C>G	ENSP00000494210.1:n.*1247C>G
ENST00000644595.1:c.1166C>G	ENSP00000494121.1:p.Pro389Arg
ENST00000644629.1:c.826C>G
ENST00000644841.1:c.794C>G	ENSP00000493988.1:p.Pro265Arg
ENST00000644959.1:c.1135C>G
ENST00000645553.1:c.1181C>G	ENSP00000494725.1:p.Pro394Arg
ENST00000646085.1:c.*644C>G	ENSP00000494509.1:n.*644C>G
ENST00000646277.1:c.1331C>G	ENSP00000495289.1:p.Pro444Arg
ENST00000646544.1:c.154C>G
ENST00000646699.1:c.1105C>G
ENST00000646793.1:c.1058C>G	ENSP00000494512.1:p.Pro353Arg
ENST00000361150.6:c.1169C>G	ENSP00000354781.2:p.Pro390Arg
ENST00000361510.6:c.1331C>G	ENSP00000355324.2:p.Pro444Arg
ENST00000361715.6:c.1223C>G	ENSP00000355311.2:p.Pro408Arg
ENST00000361828.6:c.1220C>G	ENSP00000354429.2:p.Pro407Arg
ENST00000361908.7:c.1277C>G	ENSP00000354681.3:p.Pro426Arg
ENST00000392438.7:c.1166C>G	ENSP00000376233.3:p.Pro389Arg
ENST00000475899.1:n.362C>G
NM_015560.2:c.1166C>G , LRG_337t1:c.1166C>G	NP_056375.2:p.Pro389Arg
NM_130831.2:c.1058C>G	NP_570844.1:p.Pro353Arg
NM_130832.2:c.1112C>G	NP_570845.1:p.Pro371Arg
NM_130833.2:c.1169C>G	NP_570846.1:p.Pro390Arg
NM_130834.2:c.1220C>G	NP_570847.2:p.Pro407Arg
NM_130835.2:c.1223C>G	NP_570848.1:p.Pro408Arg
NM_130836.2:c.1277C>G	NP_570849.2:p.Pro426Arg
NM_130837.2:c.1331C>G , LRG_337t2:c.1331C>G	NP_570850.2:p.Pro444Arg
XM_011512863.1:c.1331C>G	XP_011511165.1:p.Pro444Arg
XM_011512864.1:c.1277C>G	XP_011511166.1:p.Pro426Arg
XM_011512865.1:c.1220C>G	XP_011511167.1:p.Pro407Arg
XM_011512866.1:c.1169C>G	XP_011511168.1:p.Pro390Arg
XM_011512867.1:c.1166C>G	XP_011511169.1:p.Pro389Arg
XM_011512868.1:c.1058C>G	XP_011511170.1:p.Pro353Arg
XM_011512869.1:c.1331C>G	XP_011511171.1:p.Pro444Arg
NM_001354663.1:c.797C>G	NP_001341592.1:p.Pro266Arg
NM_001354664.1:c.794C>G	NP_001341593.1:p.Pro265Arg
XR_001740158.2:n.1560C>G
XR_001740159.2:n.1395C>G
NM_001354663.2:c.797C>G	NP_001341592.1:p.Pro266Arg
NM_001354664.2:c.794C>G	NP_001341593.1:p.Pro265Arg
NM_130831.3:c.1058C>G	NP_570844.1:p.Pro353Arg
NM_130832.3:c.1112C>G	NP_570845.1:p.Pro371Arg
NM_130834.3:c.1220C>G	NP_570847.2:p.Pro407Arg
NM_130836.3:c.1277C>G	NP_570849.2:p.Pro426Arg
NM_015560.3:c.1166C>G	NP_056375.2:p.Pro389Arg
NM_130833.3:c.1169C>G	NP_570846.1:p.Pro390Arg
NM_130835.3:c.1223C>G	NP_570848.1:p.Pro408Arg
NM_130837.3:c.1331C>G MANE Select	NP_570850.2:p.Pro444Arg