Canonical Allele Identifier: CA355789470

Gene: OPA1

Linked Data

• MyVariant Identifiers: chr3:g.193361327C>T (hg19) ; chr3:g.193643538C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193643538C>T , CM000665.2:g.193643538C>T	GRCh38
NC_000003.11:g.193361327C>T , CM000665.1:g.193361327C>T	GRCh37
NC_000003.10:g.194844021C>T	NCBI36
NG_011605.1:g.55395C>T , LRG_337:g.55395C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361510.8:c.1388C>T MANE Select	ENSP00000355324.2:p.Ser463Leu
ENST00000361828.7:c.1223C>T	ENSP00000354429.3:p.Ser408Leu
ENST00000361908.8:c.1334C>T	ENSP00000354681.3:p.Ser445Leu
ENST00000392436.7:c.1223C>T	ENSP00000376231.3:p.Ser408Leu
ENST00000392437.6:c.1277C>T	ENSP00000376232.2:p.Ser426Leu
ENST00000642289.1:c.1162C>T
ENST00000642445.1:c.1223C>T	ENSP00000495535.1:p.Ser408Leu
ENST00000642593.1:c.1223C>T	ENSP00000494273.1:p.Ser408Leu
ENST00000643329.1:c.905C>T	ENSP00000493673.1:p.Ser302Leu
ENST00000643737.1:c.*1304C>T	ENSP00000494210.1:n.*1304C>T
ENST00000644595.1:c.1223C>T	ENSP00000494121.1:p.Ser408Leu
ENST00000644629.1:c.883C>T
ENST00000644841.1:c.851C>T	ENSP00000493988.1:p.Ser284Leu
ENST00000644959.1:c.1192C>T
ENST00000645553.1:c.1238C>T	ENSP00000494725.1:p.Ser413Leu
ENST00000646085.1:c.*701C>T	ENSP00000494509.1:n.*701C>T
ENST00000646277.1:c.1388C>T	ENSP00000495289.1:p.Ser463Leu
ENST00000646544.1:c.211C>T
ENST00000646699.1:c.1162C>T
ENST00000646793.1:c.1115C>T	ENSP00000494512.1:p.Ser372Leu
ENST00000361150.6:c.1226C>T	ENSP00000354781.2:p.Ser409Leu
ENST00000361510.6:c.1388C>T	ENSP00000355324.2:p.Ser463Leu
ENST00000361715.6:c.1280C>T	ENSP00000355311.2:p.Ser427Leu
ENST00000361828.6:c.1277C>T	ENSP00000354429.2:p.Ser426Leu
ENST00000361908.7:c.1334C>T	ENSP00000354681.3:p.Ser445Leu
ENST00000392438.7:c.1223C>T	ENSP00000376233.3:p.Ser408Leu
ENST00000475899.1:n.419C>T
NM_015560.2:c.1223C>T , LRG_337t1:c.1223C>T	NP_056375.2:p.Ser408Leu
NM_130831.2:c.1115C>T	NP_570844.1:p.Ser372Leu
NM_130832.2:c.1169C>T	NP_570845.1:p.Ser390Leu
NM_130833.2:c.1226C>T	NP_570846.1:p.Ser409Leu
NM_130834.2:c.1277C>T	NP_570847.2:p.Ser426Leu
NM_130835.2:c.1280C>T	NP_570848.1:p.Ser427Leu
NM_130836.2:c.1334C>T	NP_570849.2:p.Ser445Leu
NM_130837.2:c.1388C>T , LRG_337t2:c.1388C>T	NP_570850.2:p.Ser463Leu
XM_011512863.1:c.1388C>T	XP_011511165.1:p.Ser463Leu
XM_011512864.1:c.1334C>T	XP_011511166.1:p.Ser445Leu
XM_011512865.1:c.1277C>T	XP_011511167.1:p.Ser426Leu
XM_011512866.1:c.1226C>T	XP_011511168.1:p.Ser409Leu
XM_011512867.1:c.1223C>T	XP_011511169.1:p.Ser408Leu
XM_011512868.1:c.1115C>T	XP_011511170.1:p.Ser372Leu
XM_011512869.1:c.1388C>T	XP_011511171.1:p.Ser463Leu
NM_001354663.1:c.854C>T	NP_001341592.1:p.Ser285Leu
NM_001354664.1:c.851C>T	NP_001341593.1:p.Ser284Leu
XR_001740158.2:n.1617C>T
XR_001740159.2:n.1452C>T
NM_001354663.2:c.854C>T	NP_001341592.1:p.Ser285Leu
NM_001354664.2:c.851C>T	NP_001341593.1:p.Ser284Leu
NM_130831.3:c.1115C>T	NP_570844.1:p.Ser372Leu
NM_130832.3:c.1169C>T	NP_570845.1:p.Ser390Leu
NM_130834.3:c.1277C>T	NP_570847.2:p.Ser426Leu
NM_130836.3:c.1334C>T	NP_570849.2:p.Ser445Leu
NM_015560.3:c.1223C>T	NP_056375.2:p.Ser408Leu
NM_130833.3:c.1226C>T	NP_570846.1:p.Ser409Leu
NM_130835.3:c.1280C>T	NP_570848.1:p.Ser427Leu
NM_130837.3:c.1388C>T MANE Select	NP_570850.2:p.Ser463Leu