Canonical Allele Identifier: CA2669105985

Gene: OPA1

Linked Data

• gnomAD v4: 3-193647237-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193647237C>A , CM000665.2:g.193647237C>A	GRCh38
NC_000003.11:g.193365026C>A , CM000665.1:g.193365026C>A	GRCh37
NC_000003.10:g.194847720C>A	NCBI36
NG_011605.1:g.59094C>A , LRG_337:g.59094C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361510.8:c.1870+57C>A MANE Select	ENSP00000355324.2:n.1870+57C>A
ENST00000361828.7:c.1705+57C>A	ENSP00000354429.3:n.1705+57C>A
ENST00000361908.8:c.1816+57C>A	ENSP00000354681.3:n.1816+57C>A
ENST00000392436.7:c.1705+57C>A	ENSP00000376231.3:n.1705+57C>A
ENST00000392437.6:c.1759+57C>A	ENSP00000376232.2:n.1759+57C>A
ENST00000642289.1:c.1644+57C>A
ENST00000642445.1:c.1705+57C>A	ENSP00000495535.1:n.1705+57C>A
ENST00000642593.1:c.1705+57C>A	ENSP00000494273.1:n.1705+57C>A
ENST00000643329.1:c.1387+57C>A	ENSP00000493673.1:n.1387+57C>A
ENST00000643737.1:c.*1786+57C>A	ENSP00000494210.1:n.*1786+57C>A
ENST00000644595.1:c.1705+57C>A	ENSP00000494121.1:n.1705+57C>A
ENST00000644629.1:c.1292+57C>A
ENST00000644841.1:c.*189+57C>A	ENSP00000493988.1:n.*189+57C>A
ENST00000644959.1:c.1674+57C>A
ENST00000645553.1:c.1720+57C>A	ENSP00000494725.1:n.1720+57C>A
ENST00000646085.1:c.*1183+57C>A	ENSP00000494509.1:n.*1183+57C>A
ENST00000646277.1:c.*306+57C>A	ENSP00000495289.1:n.*306+57C>A
ENST00000646544.1:c.693+57C>A
ENST00000646699.1:c.1644+57C>A
ENST00000646793.1:c.1597+57C>A	ENSP00000494512.1:n.1597+57C>A
ENST00000361150.6:c.1708+57C>A	ENSP00000354781.2:n.1708+57C>A
ENST00000361510.6:c.1870+57C>A	ENSP00000355324.2:n.1870+57C>A
ENST00000361715.6:c.1762+57C>A	ENSP00000355311.2:n.1762+57C>A
ENST00000361828.6:c.1759+57C>A	ENSP00000354429.2:n.1759+57C>A
ENST00000361908.7:c.1816+57C>A	ENSP00000354681.3:n.1816+57C>A
ENST00000392438.7:c.1705+57C>A	ENSP00000376233.3:n.1705+57C>A
ENST00000483516.1:n.203+57C>A
NM_015560.2:c.1705+57C>A , LRG_337t1:c.1705+57C>A	NP_056375.2:n.1705+57C>A
NM_130831.2:c.1597+57C>A	NP_570844.1:n.1597+57C>A
NM_130832.2:c.1651+57C>A	NP_570845.1:n.1651+57C>A
NM_130833.2:c.1708+57C>A	NP_570846.1:n.1708+57C>A
NM_130834.2:c.1759+57C>A	NP_570847.2:n.1759+57C>A
NM_130835.2:c.1762+57C>A	NP_570848.1:n.1762+57C>A
NM_130836.2:c.1816+57C>A	NP_570849.2:n.1816+57C>A
NM_130837.2:c.1870+57C>A , LRG_337t2:c.1870+57C>A	NP_570850.2:n.1870+57C>A
XM_011512863.1:c.1870+57C>A	XP_011511165.1:n.1870+57C>A
XM_011512864.1:c.1816+57C>A	XP_011511166.1:n.1816+57C>A
XM_011512865.1:c.1759+57C>A	XP_011511167.1:n.1759+57C>A
XM_011512866.1:c.1708+57C>A	XP_011511168.1:n.1708+57C>A
XM_011512867.1:c.1705+57C>A	XP_011511169.1:n.1705+57C>A
XM_011512868.1:c.1597+57C>A	XP_011511170.1:n.1597+57C>A
XM_011512869.1:c.1870+57C>A	XP_011511171.1:n.1870+57C>A
XR_924835.1:n.656G>T
NM_001354663.1:c.1336+57C>A	NP_001341592.1:n.1336+57C>A
NM_001354664.1:c.1333+57C>A	NP_001341593.1:n.1333+57C>A
XR_001740158.2:n.2099+57C>A
XR_001740159.2:n.1934+57C>A
XR_001741074.1:n.549G>T
XR_924835.2:n.674G>T
NM_001354663.2:c.1336+57C>A	NP_001341592.1:n.1336+57C>A
NM_001354664.2:c.1333+57C>A	NP_001341593.1:n.1333+57C>A
NM_130831.3:c.1597+57C>A	NP_570844.1:n.1597+57C>A
NM_130832.3:c.1651+57C>A	NP_570845.1:n.1651+57C>A
NM_130834.3:c.1759+57C>A	NP_570847.2:n.1759+57C>A
NM_130836.3:c.1816+57C>A	NP_570849.2:n.1816+57C>A
NM_015560.3:c.1705+57C>A	NP_056375.2:n.1705+57C>A
NM_130833.3:c.1708+57C>A	NP_570846.1:n.1708+57C>A
NM_130835.3:c.1762+57C>A	NP_570848.1:n.1762+57C>A
NM_130837.3:c.1870+57C>A MANE Select	NP_570850.2:n.1870+57C>A