Canonical Allele Identifier: CA355790458

Gene: OPA1

Linked Data

• MyVariant Identifiers: chr3:g.193364907T>A (hg19) ; chr3:g.193647118T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193647118T>A , CM000665.2:g.193647118T>A	GRCh38
NC_000003.11:g.193364907T>A , CM000665.1:g.193364907T>A	GRCh37
NC_000003.10:g.194847601T>A	NCBI36
NG_011605.1:g.58975T>A , LRG_337:g.58975T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361510.8:c.1808T>A MANE Select	ENSP00000355324.2:p.Val603Glu
ENST00000361828.7:c.1643T>A	ENSP00000354429.3:p.Val548Glu
ENST00000361908.8:c.1754T>A	ENSP00000354681.3:p.Val585Glu
ENST00000392436.7:c.1643T>A	ENSP00000376231.3:p.Val548Glu
ENST00000392437.6:c.1697T>A	ENSP00000376232.2:p.Val566Glu
ENST00000642289.1:c.1582T>A
ENST00000642445.1:c.1643T>A	ENSP00000495535.1:p.Val548Glu
ENST00000642593.1:c.1643T>A	ENSP00000494273.1:p.Val548Glu
ENST00000643329.1:c.1325T>A	ENSP00000493673.1:p.Val442Glu
ENST00000643737.1:c.*1724T>A	ENSP00000494210.1:n.*1724T>A
ENST00000644595.1:c.1643T>A	ENSP00000494121.1:p.Val548Glu
ENST00000644629.1:c.1230T>A
ENST00000644841.1:c.*127T>A	ENSP00000493988.1:n.*127T>A
ENST00000644959.1:c.1612T>A
ENST00000645553.1:c.1658T>A	ENSP00000494725.1:p.Val553Glu
ENST00000646085.1:c.*1121T>A	ENSP00000494509.1:n.*1121T>A
ENST00000646277.1:c.*244T>A	ENSP00000495289.1:n.*244T>A
ENST00000646544.1:c.631T>A
ENST00000646699.1:c.1582T>A
ENST00000646793.1:c.1535T>A	ENSP00000494512.1:p.Val512Glu
ENST00000361150.6:c.1646T>A	ENSP00000354781.2:p.Val549Glu
ENST00000361510.6:c.1808T>A	ENSP00000355324.2:p.Val603Glu
ENST00000361715.6:c.1700T>A	ENSP00000355311.2:p.Val567Glu
ENST00000361828.6:c.1697T>A	ENSP00000354429.2:p.Val566Glu
ENST00000361908.7:c.1754T>A	ENSP00000354681.3:p.Val585Glu
ENST00000392438.7:c.1643T>A	ENSP00000376233.3:p.Val548Glu
ENST00000483516.1:n.141T>A
NM_015560.2:c.1643T>A , LRG_337t1:c.1643T>A	NP_056375.2:p.Val548Glu
NM_130831.2:c.1535T>A	NP_570844.1:p.Val512Glu
NM_130832.2:c.1589T>A	NP_570845.1:p.Val530Glu
NM_130833.2:c.1646T>A	NP_570846.1:p.Val549Glu
NM_130834.2:c.1697T>A	NP_570847.2:p.Val566Glu
NM_130835.2:c.1700T>A	NP_570848.1:p.Val567Glu
NM_130836.2:c.1754T>A	NP_570849.2:p.Val585Glu
NM_130837.2:c.1808T>A , LRG_337t2:c.1808T>A	NP_570850.2:p.Val603Glu
XM_011512863.1:c.1808T>A	XP_011511165.1:p.Val603Glu
XM_011512864.1:c.1754T>A	XP_011511166.1:p.Val585Glu
XM_011512865.1:c.1697T>A	XP_011511167.1:p.Val566Glu
XM_011512866.1:c.1646T>A	XP_011511168.1:p.Val549Glu
XM_011512867.1:c.1643T>A	XP_011511169.1:p.Val548Glu
XM_011512868.1:c.1535T>A	XP_011511170.1:p.Val512Glu
XM_011512869.1:c.1808T>A	XP_011511171.1:p.Val603Glu
NM_001354663.1:c.1274T>A	NP_001341592.1:p.Val425Glu
NM_001354664.1:c.1271T>A	NP_001341593.1:p.Val424Glu
XR_001740158.2:n.2037T>A
XR_001740159.2:n.1872T>A
NM_001354663.2:c.1274T>A	NP_001341592.1:p.Val425Glu
NM_001354664.2:c.1271T>A	NP_001341593.1:p.Val424Glu
NM_130831.3:c.1535T>A	NP_570844.1:p.Val512Glu
NM_130832.3:c.1589T>A	NP_570845.1:p.Val530Glu
NM_130834.3:c.1697T>A	NP_570847.2:p.Val566Glu
NM_130836.3:c.1754T>A	NP_570849.2:p.Val585Glu
NM_015560.3:c.1643T>A	NP_056375.2:p.Val548Glu
NM_130833.3:c.1646T>A	NP_570846.1:p.Val549Glu
NM_130835.3:c.1700T>A	NP_570848.1:p.Val567Glu
NM_130837.3:c.1808T>A MANE Select	NP_570850.2:p.Val603Glu