Canonical Allele Identifier: CA355788375

Gene: OPA1

Linked Data

• MyVariant Identifiers: chr3:g.193355790T>C (hg19) ; chr3:g.193638001T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193638001T>C , CM000665.2:g.193638001T>C	GRCh38
NC_000003.11:g.193355790T>C , CM000665.1:g.193355790T>C	GRCh37
NC_000003.10:g.194838484T>C	NCBI36
NG_011605.1:g.49858T>C , LRG_337:g.49858T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361510.8:c.1085T>C MANE Select	ENSP00000355324.2:p.Met362Thr
ENST00000361828.7:c.920T>C	ENSP00000354429.3:p.Met307Thr
ENST00000361908.8:c.1031T>C	ENSP00000354681.3:p.Met344Thr
ENST00000392436.7:c.920T>C	ENSP00000376231.3:p.Met307Thr
ENST00000392437.6:c.974T>C	ENSP00000376232.2:p.Met325Thr
ENST00000642289.1:c.1015T>C
ENST00000642445.1:c.920T>C	ENSP00000495535.1:p.Met307Thr
ENST00000642593.1:c.920T>C	ENSP00000494273.1:p.Met307Thr
ENST00000643329.1:c.602T>C	ENSP00000493673.1:p.Met201Thr
ENST00000643737.1:c.*1001T>C	ENSP00000494210.1:n.*1001T>C
ENST00000644595.1:c.920T>C	ENSP00000494121.1:p.Met307Thr
ENST00000644629.1:c.580T>C
ENST00000644841.1:c.548T>C	ENSP00000493988.1:p.Met183Thr
ENST00000644959.1:c.889T>C
ENST00000645553.1:c.935T>C	ENSP00000494725.1:p.Met312Thr
ENST00000646085.1:c.*398T>C	ENSP00000494509.1:n.*398T>C
ENST00000646277.1:c.1085T>C	ENSP00000495289.1:p.Met362Thr
ENST00000646699.1:c.1015T>C
ENST00000646793.1:c.812T>C	ENSP00000494512.1:p.Met271Thr
ENST00000361150.6:c.923T>C	ENSP00000354781.2:p.Met308Thr
ENST00000361510.6:c.1085T>C	ENSP00000355324.2:p.Met362Thr
ENST00000361715.6:c.977T>C	ENSP00000355311.2:p.Met326Thr
ENST00000361828.6:c.974T>C	ENSP00000354429.2:p.Met325Thr
ENST00000361908.7:c.1031T>C	ENSP00000354681.3:p.Met344Thr
ENST00000392438.7:c.920T>C	ENSP00000376233.3:p.Met307Thr
ENST00000475899.1:n.116T>C
ENST00000495476.1:n.441T>C
ENST00000497189.5:n.406T>C
NM_015560.2:c.920T>C , LRG_337t1:c.920T>C	NP_056375.2:p.Met307Thr
NM_130831.2:c.812T>C	NP_570844.1:p.Met271Thr
NM_130832.2:c.866T>C	NP_570845.1:p.Met289Thr
NM_130833.2:c.923T>C	NP_570846.1:p.Met308Thr
NM_130834.2:c.974T>C	NP_570847.2:p.Met325Thr
NM_130835.2:c.977T>C	NP_570848.1:p.Met326Thr
NM_130836.2:c.1031T>C	NP_570849.2:p.Met344Thr
NM_130837.2:c.1085T>C , LRG_337t2:c.1085T>C	NP_570850.2:p.Met362Thr
XM_011512863.1:c.1085T>C	XP_011511165.1:p.Met362Thr
XM_011512864.1:c.1031T>C	XP_011511166.1:p.Met344Thr
XM_011512865.1:c.974T>C	XP_011511167.1:p.Met325Thr
XM_011512866.1:c.923T>C	XP_011511168.1:p.Met308Thr
XM_011512867.1:c.920T>C	XP_011511169.1:p.Met307Thr
XM_011512868.1:c.812T>C	XP_011511170.1:p.Met271Thr
XM_011512869.1:c.1085T>C	XP_011511171.1:p.Met362Thr
NM_001354663.1:c.551T>C	NP_001341592.1:p.Met184Thr
NM_001354664.1:c.548T>C	NP_001341593.1:p.Met183Thr
XR_001740158.2:n.1314T>C
XR_001740159.2:n.1149T>C
NM_001354663.2:c.551T>C	NP_001341592.1:p.Met184Thr
NM_001354664.2:c.548T>C	NP_001341593.1:p.Met183Thr
NM_130831.3:c.812T>C	NP_570844.1:p.Met271Thr
NM_130832.3:c.866T>C	NP_570845.1:p.Met289Thr
NM_130834.3:c.974T>C	NP_570847.2:p.Met325Thr
NM_130836.3:c.1031T>C	NP_570849.2:p.Met344Thr
NM_015560.3:c.920T>C	NP_056375.2:p.Met307Thr
NM_130833.3:c.923T>C	NP_570846.1:p.Met308Thr
NM_130835.3:c.977T>C	NP_570848.1:p.Met326Thr
NM_130837.3:c.1085T>C MANE Select	NP_570850.2:p.Met362Thr