Canonical Allele Identifier: CA355790729

Gene: OPA1

Linked Data

• MyVariant Identifiers: chr3:g.193365907T>G (hg19) ; chr3:g.193648118T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193648118T>G , CM000665.2:g.193648118T>G	GRCh38
NC_000003.11:g.193365907T>G , CM000665.1:g.193365907T>G	GRCh37
NC_000003.10:g.194848601T>G	NCBI36
NG_011605.1:g.59975T>G , LRG_337:g.59975T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000361510.8:c.1919T>G MANE Select	ENSP00000355324.2:p.Leu640Arg
ENST00000361828.7:c.1754T>G	ENSP00000354429.3:p.Leu585Arg
ENST00000361908.8:c.1865T>G	ENSP00000354681.3:p.Leu622Arg
ENST00000392436.7:c.1754T>G	ENSP00000376231.3:p.Leu585Arg
ENST00000392437.6:c.1808T>G	ENSP00000376232.2:p.Leu603Arg
ENST00000642289.1:c.1693T>G
ENST00000642445.1:c.1754T>G	ENSP00000495535.1:p.Leu585Arg
ENST00000642593.1:c.1706-677T>G	ENSP00000494273.1:n.1706-677T>G
ENST00000643329.1:c.1436T>G	ENSP00000493673.1:p.Leu479Arg
ENST00000643737.1:c.*1835T>G	ENSP00000494210.1:n.*1835T>G
ENST00000644595.1:c.1754T>G	ENSP00000494121.1:p.Leu585Arg
ENST00000644629.1:c.1341T>G
ENST00000644841.1:c.*238T>G	ENSP00000493988.1:n.*238T>G
ENST00000644959.1:c.1723T>G
ENST00000645553.1:c.1769T>G	ENSP00000494725.1:p.Leu590Arg
ENST00000646085.1:c.*1232T>G	ENSP00000494509.1:n.*1232T>G
ENST00000646277.1:c.*355T>G	ENSP00000495289.1:n.*355T>G
ENST00000646544.1:c.742T>G
ENST00000646699.1:c.1693T>G
ENST00000646793.1:c.1646T>G	ENSP00000494512.1:p.Leu549Arg
ENST00000361150.6:c.1757T>G	ENSP00000354781.2:p.Leu586Arg
ENST00000361510.6:c.1919T>G	ENSP00000355324.2:p.Leu640Arg
ENST00000361715.6:c.1811T>G	ENSP00000355311.2:p.Leu604Arg
ENST00000361828.6:c.1808T>G	ENSP00000354429.2:p.Leu603Arg
ENST00000361908.7:c.1865T>G	ENSP00000354681.3:p.Leu622Arg
ENST00000392438.7:c.1754T>G	ENSP00000376233.3:p.Leu585Arg
ENST00000483516.1:n.252T>G
NM_015560.2:c.1754T>G , LRG_337t1:c.1754T>G	NP_056375.2:p.Leu585Arg
NM_130831.2:c.1646T>G	NP_570844.1:p.Leu549Arg
NM_130832.2:c.1700T>G	NP_570845.1:p.Leu567Arg
NM_130833.2:c.1757T>G	NP_570846.1:p.Leu586Arg
NM_130834.2:c.1808T>G	NP_570847.2:p.Leu603Arg
NM_130835.2:c.1811T>G	NP_570848.1:p.Leu604Arg
NM_130836.2:c.1865T>G	NP_570849.2:p.Leu622Arg
NM_130837.2:c.1919T>G , LRG_337t2:c.1919T>G	NP_570850.2:p.Leu640Arg
XM_011512863.1:c.1919T>G	XP_011511165.1:p.Leu640Arg
XM_011512864.1:c.1865T>G	XP_011511166.1:p.Leu622Arg
XM_011512865.1:c.1808T>G	XP_011511167.1:p.Leu603Arg
XM_011512866.1:c.1757T>G	XP_011511168.1:p.Leu586Arg
XM_011512867.1:c.1754T>G	XP_011511169.1:p.Leu585Arg
XM_011512868.1:c.1646T>G	XP_011511170.1:p.Leu549Arg
XM_011512869.1:c.1919T>G	XP_011511171.1:p.Leu640Arg
XR_924835.1:n.583-808A>C
NM_001354663.1:c.1385T>G	NP_001341592.1:p.Leu462Arg
NM_001354664.1:c.1382T>G	NP_001341593.1:p.Leu461Arg
XR_001740158.2:n.2148T>G
XR_001740159.2:n.1983T>G
XR_001741074.1:n.476-808A>C
XR_924835.2:n.601-808A>C
NM_001354663.2:c.1385T>G	NP_001341592.1:p.Leu462Arg
NM_001354664.2:c.1382T>G	NP_001341593.1:p.Leu461Arg
NM_130831.3:c.1646T>G	NP_570844.1:p.Leu549Arg
NM_130832.3:c.1700T>G	NP_570845.1:p.Leu567Arg
NM_130834.3:c.1808T>G	NP_570847.2:p.Leu603Arg
NM_130836.3:c.1865T>G	NP_570849.2:p.Leu622Arg
NM_015560.3:c.1754T>G	NP_056375.2:p.Leu585Arg
NM_130833.3:c.1757T>G	NP_570846.1:p.Leu586Arg
NM_130835.3:c.1811T>G	NP_570848.1:p.Leu604Arg
NM_130837.3:c.1919T>G MANE Select	NP_570850.2:p.Leu640Arg