Canonical Allele Identifier: CA355790727

Gene: OPA1

Linked Data

• MyVariant Identifiers: chr3:g.193365906C>G (hg19) ; chr3:g.193648117C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193648117C>G , CM000665.2:g.193648117C>G	GRCh38
NC_000003.11:g.193365906C>G , CM000665.1:g.193365906C>G	GRCh37
NC_000003.10:g.194848600C>G	NCBI36
NG_011605.1:g.59974C>G , LRG_337:g.59974C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000361510.8:c.1918C>G MANE Select	ENSP00000355324.2:p.Leu640Val
ENST00000361828.7:c.1753C>G	ENSP00000354429.3:p.Leu585Val
ENST00000361908.8:c.1864C>G	ENSP00000354681.3:p.Leu622Val
ENST00000392436.7:c.1753C>G	ENSP00000376231.3:p.Leu585Val
ENST00000392437.6:c.1807C>G	ENSP00000376232.2:p.Leu603Val
ENST00000642289.1:c.1692C>G
ENST00000642445.1:c.1753C>G	ENSP00000495535.1:p.Leu585Val
ENST00000642593.1:c.1706-678C>G	ENSP00000494273.1:n.1706-678C>G
ENST00000643329.1:c.1435C>G	ENSP00000493673.1:p.Leu479Val
ENST00000643737.1:c.*1834C>G	ENSP00000494210.1:n.*1834C>G
ENST00000644595.1:c.1753C>G	ENSP00000494121.1:p.Leu585Val
ENST00000644629.1:c.1340C>G
ENST00000644841.1:c.*237C>G	ENSP00000493988.1:n.*237C>G
ENST00000644959.1:c.1722C>G
ENST00000645553.1:c.1768C>G	ENSP00000494725.1:p.Leu590Val
ENST00000646085.1:c.*1231C>G	ENSP00000494509.1:n.*1231C>G
ENST00000646277.1:c.*354C>G	ENSP00000495289.1:n.*354C>G
ENST00000646544.1:c.741C>G
ENST00000646699.1:c.1692C>G
ENST00000646793.1:c.1645C>G	ENSP00000494512.1:p.Leu549Val
ENST00000361150.6:c.1756C>G	ENSP00000354781.2:p.Leu586Val
ENST00000361510.6:c.1918C>G	ENSP00000355324.2:p.Leu640Val
ENST00000361715.6:c.1810C>G	ENSP00000355311.2:p.Leu604Val
ENST00000361828.6:c.1807C>G	ENSP00000354429.2:p.Leu603Val
ENST00000361908.7:c.1864C>G	ENSP00000354681.3:p.Leu622Val
ENST00000392438.7:c.1753C>G	ENSP00000376233.3:p.Leu585Val
ENST00000483516.1:n.251C>G
NM_015560.2:c.1753C>G , LRG_337t1:c.1753C>G	NP_056375.2:p.Leu585Val
NM_130831.2:c.1645C>G	NP_570844.1:p.Leu549Val
NM_130832.2:c.1699C>G	NP_570845.1:p.Leu567Val
NM_130833.2:c.1756C>G	NP_570846.1:p.Leu586Val
NM_130834.2:c.1807C>G	NP_570847.2:p.Leu603Val
NM_130835.2:c.1810C>G	NP_570848.1:p.Leu604Val
NM_130836.2:c.1864C>G	NP_570849.2:p.Leu622Val
NM_130837.2:c.1918C>G , LRG_337t2:c.1918C>G	NP_570850.2:p.Leu640Val
XM_011512863.1:c.1918C>G	XP_011511165.1:p.Leu640Val
XM_011512864.1:c.1864C>G	XP_011511166.1:p.Leu622Val
XM_011512865.1:c.1807C>G	XP_011511167.1:p.Leu603Val
XM_011512866.1:c.1756C>G	XP_011511168.1:p.Leu586Val
XM_011512867.1:c.1753C>G	XP_011511169.1:p.Leu585Val
XM_011512868.1:c.1645C>G	XP_011511170.1:p.Leu549Val
XM_011512869.1:c.1918C>G	XP_011511171.1:p.Leu640Val
XR_924835.1:n.583-807G>C
NM_001354663.1:c.1384C>G	NP_001341592.1:p.Leu462Val
NM_001354664.1:c.1381C>G	NP_001341593.1:p.Leu461Val
XR_001740158.2:n.2147C>G
XR_001740159.2:n.1982C>G
XR_001741074.1:n.476-807G>C
XR_924835.2:n.601-807G>C
NM_001354663.2:c.1384C>G	NP_001341592.1:p.Leu462Val
NM_001354664.2:c.1381C>G	NP_001341593.1:p.Leu461Val
NM_130831.3:c.1645C>G	NP_570844.1:p.Leu549Val
NM_130832.3:c.1699C>G	NP_570845.1:p.Leu567Val
NM_130834.3:c.1807C>G	NP_570847.2:p.Leu603Val
NM_130836.3:c.1864C>G	NP_570849.2:p.Leu622Val
NM_015560.3:c.1753C>G	NP_056375.2:p.Leu585Val
NM_130833.3:c.1756C>G	NP_570846.1:p.Leu586Val
NM_130835.3:c.1810C>G	NP_570848.1:p.Leu604Val
NM_130837.3:c.1918C>G MANE Select	NP_570850.2:p.Leu640Val