Canonical Allele Identifier: CA355797451

Gene: OPA1

Linked Data

• gnomAD v4: 3-193667223-G-A
• MyVariant Identifiers: chr3:g.193385012G>A (hg19) ; chr3:g.193667223G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193667223G>A , CM000665.2:g.193667223G>A	GRCh38
NC_000003.11:g.193385012G>A , CM000665.1:g.193385012G>A	GRCh37
NC_000003.10:g.194867706G>A	NCBI36
NG_011605.1:g.79080G>A , LRG_337:g.79080G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361510.8:c.2926G>A MANE Select	ENSP00000355324.2:p.Gly976Ser
ENST00000361828.7:c.2761G>A	ENSP00000354429.3:p.Gly921Ser
ENST00000361908.8:c.2872G>A	ENSP00000354681.3:p.Gly958Ser
ENST00000392436.7:c.2761G>A	ENSP00000376231.3:p.Gly921Ser
ENST00000392437.6:c.2815G>A	ENSP00000376232.2:p.Gly939Ser
ENST00000642289.1:c.2700G>A
ENST00000642445.1:c.2761G>A	ENSP00000495535.1:p.Gly921Ser
ENST00000642593.1:c.*986G>A	ENSP00000494273.1:n.*986G>A
ENST00000643329.1:c.2443G>A	ENSP00000493673.1:p.Gly815Ser
ENST00000643737.1:c.*2842G>A	ENSP00000494210.1:n.*2842G>A
ENST00000644595.1:c.2761G>A	ENSP00000494121.1:p.Gly921Ser
ENST00000644629.1:c.2348G>A
ENST00000644841.1:c.*1245G>A	ENSP00000493988.1:n.*1245G>A
ENST00000644959.1:c.2755G>A
ENST00000645553.1:c.2776G>A	ENSP00000494725.1:p.Gly926Ser
ENST00000646085.1:c.*2239G>A	ENSP00000494509.1:n.*2239G>A
ENST00000646277.1:c.*1362G>A	ENSP00000495289.1:n.*1362G>A
ENST00000646544.1:c.1749G>A
ENST00000646699.1:c.2700G>A
ENST00000646793.1:c.2653G>A	ENSP00000494512.1:p.Gly885Ser
ENST00000361150.6:c.2764G>A	ENSP00000354781.2:p.Gly922Ser
ENST00000361510.6:c.2926G>A	ENSP00000355324.2:p.Gly976Ser
ENST00000361715.6:c.2818G>A	ENSP00000355311.2:p.Gly940Ser
ENST00000361828.6:c.2815G>A	ENSP00000354429.2:p.Gly939Ser
ENST00000361908.7:c.2872G>A	ENSP00000354681.3:p.Gly958Ser
ENST00000392438.7:c.2761G>A	ENSP00000376233.3:p.Gly921Ser
ENST00000429164.1:c.48G>A
ENST00000445863.1:c.337G>A	ENSP00000398358.1:p.Gly113Ser
NM_015560.2:c.2761G>A , LRG_337t1:c.2761G>A	NP_056375.2:p.Gly921Ser
NM_130831.2:c.2653G>A	NP_570844.1:p.Gly885Ser
NM_130832.2:c.2707G>A	NP_570845.1:p.Gly903Ser
NM_130833.2:c.2764G>A	NP_570846.1:p.Gly922Ser
NM_130834.2:c.2815G>A	NP_570847.2:p.Gly939Ser
NM_130835.2:c.2818G>A	NP_570848.1:p.Gly940Ser
NM_130836.2:c.2872G>A	NP_570849.2:p.Gly958Ser
NM_130837.2:c.2926G>A , LRG_337t2:c.2926G>A	NP_570850.2:p.Gly976Ser
XM_011512863.1:c.2926G>A	XP_011511165.1:p.Gly976Ser
XM_011512864.1:c.2872G>A	XP_011511166.1:p.Gly958Ser
XM_011512865.1:c.2815G>A	XP_011511167.1:p.Gly939Ser
XM_011512866.1:c.2764G>A	XP_011511168.1:p.Gly922Ser
XM_011512867.1:c.2761G>A	XP_011511169.1:p.Gly921Ser
XM_011512868.1:c.2653G>A	XP_011511170.1:p.Gly885Ser
XR_924835.1:n.582+1697C>T
NM_001354663.1:c.2392G>A	NP_001341592.1:p.Gly798Ser
NM_001354664.1:c.2389G>A	NP_001341593.1:p.Gly797Ser
XR_001740158.2:n.3180G>A
XR_001740159.2:n.3015G>A
XR_001741072.1:n.600+1697C>T
XR_001741074.1:n.475+3585C>T
XR_924835.2:n.600+1697C>T
NM_001354663.2:c.2392G>A	NP_001341592.1:p.Gly798Ser
NM_001354664.2:c.2389G>A	NP_001341593.1:p.Gly797Ser
NM_130831.3:c.2653G>A	NP_570844.1:p.Gly885Ser
NM_130832.3:c.2707G>A	NP_570845.1:p.Gly903Ser
NM_130834.3:c.2815G>A	NP_570847.2:p.Gly939Ser
NM_130836.3:c.2872G>A	NP_570849.2:p.Gly958Ser
NM_015560.3:c.2761G>A	NP_056375.2:p.Gly921Ser
NM_130833.3:c.2764G>A	NP_570846.1:p.Gly922Ser
NM_130835.3:c.2818G>A	NP_570848.1:p.Gly940Ser
NM_130837.3:c.2926G>A MANE Select	NP_570850.2:p.Gly976Ser