Canonical Allele Identifier: CA355789072

Gene: OPA1

Linked Data

• MyVariant Identifiers: chr3:g.193360810T>C (hg19) ; chr3:g.193643021T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193643021T>C , CM000665.2:g.193643021T>C	GRCh38
NC_000003.11:g.193360810T>C , CM000665.1:g.193360810T>C	GRCh37
NC_000003.10:g.194843504T>C	NCBI36
NG_011605.1:g.54878T>C , LRG_337:g.54878T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361510.8:c.1277T>C MANE Select	ENSP00000355324.2:p.Val426Ala
ENST00000361828.7:c.1112T>C	ENSP00000354429.3:p.Val371Ala
ENST00000361908.8:c.1223T>C	ENSP00000354681.3:p.Val408Ala
ENST00000392436.7:c.1112T>C	ENSP00000376231.3:p.Val371Ala
ENST00000392437.6:c.1166T>C	ENSP00000376232.2:p.Val389Ala
ENST00000642289.1:c.1080-352T>C
ENST00000642445.1:c.1112T>C	ENSP00000495535.1:p.Val371Ala
ENST00000642593.1:c.1112T>C	ENSP00000494273.1:p.Val371Ala
ENST00000643329.1:c.794T>C	ENSP00000493673.1:p.Val265Ala
ENST00000643737.1:c.*1193T>C	ENSP00000494210.1:n.*1193T>C
ENST00000644595.1:c.1112T>C	ENSP00000494121.1:p.Val371Ala
ENST00000644629.1:c.772T>C
ENST00000644841.1:c.740T>C	ENSP00000493988.1:p.Val247Ala
ENST00000644959.1:c.1081T>C
ENST00000645553.1:c.1127T>C	ENSP00000494725.1:p.Val376Ala
ENST00000646085.1:c.*590T>C	ENSP00000494509.1:n.*590T>C
ENST00000646277.1:c.1277T>C	ENSP00000495289.1:p.Val426Ala
ENST00000646544.1:c.128+176T>C
ENST00000646699.1:c.1080-352T>C
ENST00000646793.1:c.1004T>C	ENSP00000494512.1:p.Val335Ala
ENST00000361150.6:c.1115T>C	ENSP00000354781.2:p.Val372Ala
ENST00000361510.6:c.1277T>C	ENSP00000355324.2:p.Val426Ala
ENST00000361715.6:c.1169T>C	ENSP00000355311.2:p.Val390Ala
ENST00000361828.6:c.1166T>C	ENSP00000354429.2:p.Val389Ala
ENST00000361908.7:c.1223T>C	ENSP00000354681.3:p.Val408Ala
ENST00000392438.7:c.1112T>C	ENSP00000376233.3:p.Val371Ala
ENST00000475899.1:n.308T>C
NM_015560.2:c.1112T>C , LRG_337t1:c.1112T>C	NP_056375.2:p.Val371Ala
NM_130831.2:c.1004T>C	NP_570844.1:p.Val335Ala
NM_130832.2:c.1058T>C	NP_570845.1:p.Val353Ala
NM_130833.2:c.1115T>C	NP_570846.1:p.Val372Ala
NM_130834.2:c.1166T>C	NP_570847.2:p.Val389Ala
NM_130835.2:c.1169T>C	NP_570848.1:p.Val390Ala
NM_130836.2:c.1223T>C	NP_570849.2:p.Val408Ala
NM_130837.2:c.1277T>C , LRG_337t2:c.1277T>C	NP_570850.2:p.Val426Ala
XM_011512863.1:c.1277T>C	XP_011511165.1:p.Val426Ala
XM_011512864.1:c.1223T>C	XP_011511166.1:p.Val408Ala
XM_011512865.1:c.1166T>C	XP_011511167.1:p.Val389Ala
XM_011512866.1:c.1115T>C	XP_011511168.1:p.Val372Ala
XM_011512867.1:c.1112T>C	XP_011511169.1:p.Val371Ala
XM_011512868.1:c.1004T>C	XP_011511170.1:p.Val335Ala
XM_011512869.1:c.1277T>C	XP_011511171.1:p.Val426Ala
NM_001354663.1:c.743T>C	NP_001341592.1:p.Val248Ala
NM_001354664.1:c.740T>C	NP_001341593.1:p.Val247Ala
XR_001740158.2:n.1506T>C
XR_001740159.2:n.1341T>C
NM_001354663.2:c.743T>C	NP_001341592.1:p.Val248Ala
NM_001354664.2:c.740T>C	NP_001341593.1:p.Val247Ala
NM_130831.3:c.1004T>C	NP_570844.1:p.Val335Ala
NM_130832.3:c.1058T>C	NP_570845.1:p.Val353Ala
NM_130834.3:c.1166T>C	NP_570847.2:p.Val389Ala
NM_130836.3:c.1223T>C	NP_570849.2:p.Val408Ala
NM_015560.3:c.1112T>C	NP_056375.2:p.Val371Ala
NM_130833.3:c.1115T>C	NP_570846.1:p.Val372Ala
NM_130835.3:c.1169T>C	NP_570848.1:p.Val390Ala
NM_130837.3:c.1277T>C MANE Select	NP_570850.2:p.Val426Ala