Canonical Allele Identifier: CA355789360

Gene: OPA1

Linked Data

• MyVariant Identifiers: chr3:g.193361217T>G (hg19) ; chr3:g.193643428T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193643428T>G , CM000665.2:g.193643428T>G	GRCh38
NC_000003.11:g.193361217T>G , CM000665.1:g.193361217T>G	GRCh37
NC_000003.10:g.194843911T>G	NCBI36
NG_011605.1:g.55285T>G , LRG_337:g.55285T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361510.8:c.1361T>G MANE Select	ENSP00000355324.2:p.Leu454Ter
ENST00000361828.7:c.1196T>G	ENSP00000354429.3:p.Leu399Ter
ENST00000361908.8:c.1307T>G	ENSP00000354681.3:p.Leu436Ter
ENST00000392436.7:c.1196T>G	ENSP00000376231.3:p.Leu399Ter
ENST00000392437.6:c.1250T>G	ENSP00000376232.2:p.Leu417Ter
ENST00000642289.1:c.1135T>G
ENST00000642445.1:c.1196T>G	ENSP00000495535.1:p.Leu399Ter
ENST00000642593.1:c.1196T>G	ENSP00000494273.1:p.Leu399Ter
ENST00000643329.1:c.878T>G	ENSP00000493673.1:p.Leu293Ter
ENST00000643737.1:c.*1277T>G	ENSP00000494210.1:n.*1277T>G
ENST00000644595.1:c.1196T>G	ENSP00000494121.1:p.Leu399Ter
ENST00000644629.1:c.856T>G
ENST00000644841.1:c.824T>G	ENSP00000493988.1:p.Leu275Ter
ENST00000644959.1:c.1165T>G
ENST00000645553.1:c.1211T>G	ENSP00000494725.1:p.Leu404Ter
ENST00000646085.1:c.*674T>G	ENSP00000494509.1:n.*674T>G
ENST00000646277.1:c.1361T>G	ENSP00000495289.1:p.Leu454Ter
ENST00000646544.1:c.184T>G
ENST00000646699.1:c.1135T>G
ENST00000646793.1:c.1088T>G	ENSP00000494512.1:p.Leu363Ter
ENST00000361150.6:c.1199T>G	ENSP00000354781.2:p.Leu400Ter
ENST00000361510.6:c.1361T>G	ENSP00000355324.2:p.Leu454Ter
ENST00000361715.6:c.1253T>G	ENSP00000355311.2:p.Leu418Ter
ENST00000361828.6:c.1250T>G	ENSP00000354429.2:p.Leu417Ter
ENST00000361908.7:c.1307T>G	ENSP00000354681.3:p.Leu436Ter
ENST00000392438.7:c.1196T>G	ENSP00000376233.3:p.Leu399Ter
ENST00000475899.1:n.392T>G
NM_015560.2:c.1196T>G , LRG_337t1:c.1196T>G	NP_056375.2:p.Leu399Ter
NM_130831.2:c.1088T>G	NP_570844.1:p.Leu363Ter
NM_130832.2:c.1142T>G	NP_570845.1:p.Leu381Ter
NM_130833.2:c.1199T>G	NP_570846.1:p.Leu400Ter
NM_130834.2:c.1250T>G	NP_570847.2:p.Leu417Ter
NM_130835.2:c.1253T>G	NP_570848.1:p.Leu418Ter
NM_130836.2:c.1307T>G	NP_570849.2:p.Leu436Ter
NM_130837.2:c.1361T>G , LRG_337t2:c.1361T>G	NP_570850.2:p.Leu454Ter
XM_011512863.1:c.1361T>G	XP_011511165.1:p.Leu454Ter
XM_011512864.1:c.1307T>G	XP_011511166.1:p.Leu436Ter
XM_011512865.1:c.1250T>G	XP_011511167.1:p.Leu417Ter
XM_011512866.1:c.1199T>G	XP_011511168.1:p.Leu400Ter
XM_011512867.1:c.1196T>G	XP_011511169.1:p.Leu399Ter
XM_011512868.1:c.1088T>G	XP_011511170.1:p.Leu363Ter
XM_011512869.1:c.1361T>G	XP_011511171.1:p.Leu454Ter
NM_001354663.1:c.827T>G	NP_001341592.1:p.Leu276Ter
NM_001354664.1:c.824T>G	NP_001341593.1:p.Leu275Ter
XR_001740158.2:n.1590T>G
XR_001740159.2:n.1425T>G
NM_001354663.2:c.827T>G	NP_001341592.1:p.Leu276Ter
NM_001354664.2:c.824T>G	NP_001341593.1:p.Leu275Ter
NM_130831.3:c.1088T>G	NP_570844.1:p.Leu363Ter
NM_130832.3:c.1142T>G	NP_570845.1:p.Leu381Ter
NM_130834.3:c.1250T>G	NP_570847.2:p.Leu417Ter
NM_130836.3:c.1307T>G	NP_570849.2:p.Leu436Ter
NM_015560.3:c.1196T>G	NP_056375.2:p.Leu399Ter
NM_130833.3:c.1199T>G	NP_570846.1:p.Leu400Ter
NM_130835.3:c.1253T>G	NP_570848.1:p.Leu418Ter
NM_130837.3:c.1361T>G MANE Select	NP_570850.2:p.Leu454Ter