Canonical Allele Identifier: CA355792858

Gene: OPA1

Linked Data

• MyVariant Identifiers: chr3:g.193377298G>A (hg19) ; chr3:g.193659509G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193659509G>A , CM000665.2:g.193659509G>A	GRCh38
NC_000003.11:g.193377298G>A , CM000665.1:g.193377298G>A	GRCh37
NC_000003.10:g.194859992G>A	NCBI36
NG_011605.1:g.71366G>A , LRG_337:g.71366G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361510.8:c.2468G>A MANE Select	ENSP00000355324.2:p.Gly823Asp
ENST00000361828.7:c.2303G>A	ENSP00000354429.3:p.Gly768Asp
ENST00000361908.8:c.2414G>A	ENSP00000354681.3:p.Gly805Asp
ENST00000392436.7:c.2303G>A	ENSP00000376231.3:p.Gly768Asp
ENST00000392437.6:c.2357G>A	ENSP00000376232.2:p.Gly786Asp
ENST00000642289.1:c.2242G>A
ENST00000642445.1:c.2303G>A	ENSP00000495535.1:p.Gly768Asp
ENST00000642593.1:c.*528G>A	ENSP00000494273.1:n.*528G>A
ENST00000643329.1:c.1985G>A	ENSP00000493673.1:p.Gly662Asp
ENST00000643737.1:c.*2384G>A	ENSP00000494210.1:n.*2384G>A
ENST00000644595.1:c.2303G>A	ENSP00000494121.1:p.Gly768Asp
ENST00000644629.1:c.1890G>A
ENST00000644841.1:c.*787G>A	ENSP00000493988.1:n.*787G>A
ENST00000644959.1:c.2297G>A
ENST00000645553.1:c.2318G>A	ENSP00000494725.1:p.Gly773Asp
ENST00000646085.1:c.*1781G>A	ENSP00000494509.1:n.*1781G>A
ENST00000646277.1:c.*904G>A	ENSP00000495289.1:n.*904G>A
ENST00000646544.1:c.1291G>A
ENST00000646699.1:c.2242G>A
ENST00000646793.1:c.2195G>A	ENSP00000494512.1:p.Gly732Asp
ENST00000361150.6:c.2306G>A	ENSP00000354781.2:p.Gly769Asp
ENST00000361510.6:c.2468G>A	ENSP00000355324.2:p.Gly823Asp
ENST00000361715.6:c.2360G>A	ENSP00000355311.2:p.Gly787Asp
ENST00000361828.6:c.2357G>A	ENSP00000354429.2:p.Gly786Asp
ENST00000361908.7:c.2414G>A	ENSP00000354681.3:p.Gly805Asp
ENST00000392438.7:c.2303G>A	ENSP00000376233.3:p.Gly768Asp
ENST00000482865.1:n.562G>A
NM_015560.2:c.2303G>A , LRG_337t1:c.2303G>A	NP_056375.2:p.Gly768Asp
NM_130831.2:c.2195G>A	NP_570844.1:p.Gly732Asp
NM_130832.2:c.2249G>A	NP_570845.1:p.Gly750Asp
NM_130833.2:c.2306G>A	NP_570846.1:p.Gly769Asp
NM_130834.2:c.2357G>A	NP_570847.2:p.Gly786Asp
NM_130835.2:c.2360G>A	NP_570848.1:p.Gly787Asp
NM_130836.2:c.2414G>A	NP_570849.2:p.Gly805Asp
NM_130837.2:c.2468G>A , LRG_337t2:c.2468G>A	NP_570850.2:p.Gly823Asp
XM_011512863.1:c.2468G>A	XP_011511165.1:p.Gly823Asp
XM_011512864.1:c.2414G>A	XP_011511166.1:p.Gly805Asp
XM_011512865.1:c.2357G>A	XP_011511167.1:p.Gly786Asp
XM_011512866.1:c.2306G>A	XP_011511168.1:p.Gly769Asp
XM_011512867.1:c.2303G>A	XP_011511169.1:p.Gly768Asp
XM_011512868.1:c.2195G>A	XP_011511170.1:p.Gly732Asp
XR_924835.1:n.582+9411C>T
NM_001354663.1:c.1934G>A	NP_001341592.1:p.Gly645Asp
NM_001354664.1:c.1931G>A	NP_001341593.1:p.Gly644Asp
XR_001740158.2:n.2722G>A
XR_001740159.2:n.2557G>A
XR_001741074.1:n.475+11299C>T
XR_924835.2:n.600+9411C>T
NM_001354663.2:c.1934G>A	NP_001341592.1:p.Gly645Asp
NM_001354664.2:c.1931G>A	NP_001341593.1:p.Gly644Asp
NM_130831.3:c.2195G>A	NP_570844.1:p.Gly732Asp
NM_130832.3:c.2249G>A	NP_570845.1:p.Gly750Asp
NM_130834.3:c.2357G>A	NP_570847.2:p.Gly786Asp
NM_130836.3:c.2414G>A	NP_570849.2:p.Gly805Asp
NM_015560.3:c.2303G>A	NP_056375.2:p.Gly768Asp
NM_130833.3:c.2306G>A	NP_570846.1:p.Gly769Asp
NM_130835.3:c.2360G>A	NP_570848.1:p.Gly787Asp
NM_130837.3:c.2468G>A MANE Select	NP_570850.2:p.Gly823Asp