Canonical Allele Identifier: CA355790348

Gene: OPA1

Linked Data

• gnomAD v4: 3-193647067-C-A
• MyVariant Identifiers: chr3:g.193364856C>A (hg19) ; chr3:g.193647067C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193647067C>A , CM000665.2:g.193647067C>A	GRCh38
NC_000003.11:g.193364856C>A , CM000665.1:g.193364856C>A	GRCh37
NC_000003.10:g.194847550C>A	NCBI36
NG_011605.1:g.58924C>A , LRG_337:g.58924C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361510.8:c.1757C>A MANE Select	ENSP00000355324.2:p.Thr586Lys
ENST00000361828.7:c.1592C>A	ENSP00000354429.3:p.Thr531Lys
ENST00000361908.8:c.1703C>A	ENSP00000354681.3:p.Thr568Lys
ENST00000392436.7:c.1592C>A	ENSP00000376231.3:p.Thr531Lys
ENST00000392437.6:c.1646C>A	ENSP00000376232.2:p.Thr549Lys
ENST00000642289.1:c.1531C>A
ENST00000642445.1:c.1592C>A	ENSP00000495535.1:p.Thr531Lys
ENST00000642593.1:c.1592C>A	ENSP00000494273.1:p.Thr531Lys
ENST00000643329.1:c.1274C>A	ENSP00000493673.1:p.Thr425Lys
ENST00000643737.1:c.*1673C>A	ENSP00000494210.1:n.*1673C>A
ENST00000644595.1:c.1592C>A	ENSP00000494121.1:p.Thr531Lys
ENST00000644629.1:c.1179C>A
ENST00000644841.1:c.*76C>A	ENSP00000493988.1:n.*76C>A
ENST00000644959.1:c.1561C>A
ENST00000645553.1:c.1607C>A	ENSP00000494725.1:p.Thr536Lys
ENST00000646085.1:c.*1070C>A	ENSP00000494509.1:n.*1070C>A
ENST00000646277.1:c.*193C>A	ENSP00000495289.1:n.*193C>A
ENST00000646544.1:c.580C>A
ENST00000646699.1:c.1531C>A
ENST00000646793.1:c.1484C>A	ENSP00000494512.1:p.Thr495Lys
ENST00000361150.6:c.1595C>A	ENSP00000354781.2:p.Thr532Lys
ENST00000361510.6:c.1757C>A	ENSP00000355324.2:p.Thr586Lys
ENST00000361715.6:c.1649C>A	ENSP00000355311.2:p.Thr550Lys
ENST00000361828.6:c.1646C>A	ENSP00000354429.2:p.Thr549Lys
ENST00000361908.7:c.1703C>A	ENSP00000354681.3:p.Thr568Lys
ENST00000392438.7:c.1592C>A	ENSP00000376233.3:p.Thr531Lys
ENST00000483516.1:n.90C>A
NM_015560.2:c.1592C>A , LRG_337t1:c.1592C>A	NP_056375.2:p.Thr531Lys
NM_130831.2:c.1484C>A	NP_570844.1:p.Thr495Lys
NM_130832.2:c.1538C>A	NP_570845.1:p.Thr513Lys
NM_130833.2:c.1595C>A	NP_570846.1:p.Thr532Lys
NM_130834.2:c.1646C>A	NP_570847.2:p.Thr549Lys
NM_130835.2:c.1649C>A	NP_570848.1:p.Thr550Lys
NM_130836.2:c.1703C>A	NP_570849.2:p.Thr568Lys
NM_130837.2:c.1757C>A , LRG_337t2:c.1757C>A	NP_570850.2:p.Thr586Lys
XM_011512863.1:c.1757C>A	XP_011511165.1:p.Thr586Lys
XM_011512864.1:c.1703C>A	XP_011511166.1:p.Thr568Lys
XM_011512865.1:c.1646C>A	XP_011511167.1:p.Thr549Lys
XM_011512866.1:c.1595C>A	XP_011511168.1:p.Thr532Lys
XM_011512867.1:c.1592C>A	XP_011511169.1:p.Thr531Lys
XM_011512868.1:c.1484C>A	XP_011511170.1:p.Thr495Lys
XM_011512869.1:c.1757C>A	XP_011511171.1:p.Thr586Lys
NM_001354663.1:c.1223C>A	NP_001341592.1:p.Thr408Lys
NM_001354664.1:c.1220C>A	NP_001341593.1:p.Thr407Lys
XR_001740158.2:n.1986C>A
XR_001740159.2:n.1821C>A
NM_001354663.2:c.1223C>A	NP_001341592.1:p.Thr408Lys
NM_001354664.2:c.1220C>A	NP_001341593.1:p.Thr407Lys
NM_130831.3:c.1484C>A	NP_570844.1:p.Thr495Lys
NM_130832.3:c.1538C>A	NP_570845.1:p.Thr513Lys
NM_130834.3:c.1646C>A	NP_570847.2:p.Thr549Lys
NM_130836.3:c.1703C>A	NP_570849.2:p.Thr568Lys
NM_015560.3:c.1592C>A	NP_056375.2:p.Thr531Lys
NM_130833.3:c.1595C>A	NP_570846.1:p.Thr532Lys
NM_130835.3:c.1649C>A	NP_570848.1:p.Thr550Lys
NM_130837.3:c.1757C>A MANE Select	NP_570850.2:p.Thr586Lys