Canonical Allele Identifier: CA355797090

Gene: OPA1

Linked Data

• dbSNP Id: rs1716763602
• gnomAD v4: 3-193667175-C-T
• COSMIC: COSM3333834
• MyVariant Identifiers: chr3:g.193384964C>T (hg19) ; chr3:g.193667175C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193667175C>T , CM000665.2:g.193667175C>T	GRCh38
NC_000003.11:g.193384964C>T , CM000665.1:g.193384964C>T	GRCh37
NC_000003.10:g.194867658C>T	NCBI36
NG_011605.1:g.79032C>T , LRG_337:g.79032C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361510.8:c.2878C>T MANE Select	ENSP00000355324.2:p.Arg960Ter
ENST00000361828.7:c.2713C>T	ENSP00000354429.3:p.Arg905Ter
ENST00000361908.8:c.2824C>T	ENSP00000354681.3:p.Arg942Ter
ENST00000392436.7:c.2713C>T	ENSP00000376231.3:p.Arg905Ter
ENST00000392437.6:c.2767C>T	ENSP00000376232.2:p.Arg923Ter
ENST00000642289.1:c.2652C>T
ENST00000642445.1:c.2713C>T	ENSP00000495535.1:p.Arg905Ter
ENST00000642593.1:c.*938C>T	ENSP00000494273.1:n.*938C>T
ENST00000643329.1:c.2395C>T	ENSP00000493673.1:p.Arg799Ter
ENST00000643737.1:c.*2794C>T	ENSP00000494210.1:n.*2794C>T
ENST00000644595.1:c.2713C>T	ENSP00000494121.1:p.Arg905Ter
ENST00000644629.1:c.2300C>T
ENST00000644841.1:c.*1197C>T	ENSP00000493988.1:n.*1197C>T
ENST00000644959.1:c.2707C>T
ENST00000645553.1:c.2728C>T	ENSP00000494725.1:p.Arg910Ter
ENST00000646085.1:c.*2191C>T	ENSP00000494509.1:n.*2191C>T
ENST00000646277.1:c.*1314C>T	ENSP00000495289.1:n.*1314C>T
ENST00000646544.1:c.1701C>T
ENST00000646699.1:c.2652C>T
ENST00000646793.1:c.2605C>T	ENSP00000494512.1:p.Arg869Ter
ENST00000361150.6:c.2716C>T	ENSP00000354781.2:p.Arg906Ter
ENST00000361510.6:c.2878C>T	ENSP00000355324.2:p.Arg960Ter
ENST00000361715.6:c.2770C>T	ENSP00000355311.2:p.Arg924Ter
ENST00000361828.6:c.2767C>T	ENSP00000354429.2:p.Arg923Ter
ENST00000361908.7:c.2824C>T	ENSP00000354681.3:p.Arg942Ter
ENST00000392438.7:c.2713C>T	ENSP00000376233.3:p.Arg905Ter
ENST00000445863.1:c.289C>T	ENSP00000398358.1:p.Arg97Ter
NM_015560.2:c.2713C>T , LRG_337t1:c.2713C>T	NP_056375.2:p.Arg905Ter
NM_130831.2:c.2605C>T	NP_570844.1:p.Arg869Ter
NM_130832.2:c.2659C>T	NP_570845.1:p.Arg887Ter
NM_130833.2:c.2716C>T	NP_570846.1:p.Arg906Ter
NM_130834.2:c.2767C>T	NP_570847.2:p.Arg923Ter
NM_130835.2:c.2770C>T	NP_570848.1:p.Arg924Ter
NM_130836.2:c.2824C>T	NP_570849.2:p.Arg942Ter
NM_130837.2:c.2878C>T , LRG_337t2:c.2878C>T	NP_570850.2:p.Arg960Ter
XM_011512863.1:c.2878C>T	XP_011511165.1:p.Arg960Ter
XM_011512864.1:c.2824C>T	XP_011511166.1:p.Arg942Ter
XM_011512865.1:c.2767C>T	XP_011511167.1:p.Arg923Ter
XM_011512866.1:c.2716C>T	XP_011511168.1:p.Arg906Ter
XM_011512867.1:c.2713C>T	XP_011511169.1:p.Arg905Ter
XM_011512868.1:c.2605C>T	XP_011511170.1:p.Arg869Ter
XR_924835.1:n.582+1745G>A
NM_001354663.1:c.2344C>T	NP_001341592.1:p.Arg782Ter
NM_001354664.1:c.2341C>T	NP_001341593.1:p.Arg781Ter
XR_001740158.2:n.3132C>T
XR_001740159.2:n.2967C>T
XR_001741072.1:n.600+1745G>A
XR_001741074.1:n.475+3633G>A
XR_924835.2:n.600+1745G>A
NM_001354663.2:c.2344C>T	NP_001341592.1:p.Arg782Ter
NM_001354664.2:c.2341C>T	NP_001341593.1:p.Arg781Ter
NM_130831.3:c.2605C>T	NP_570844.1:p.Arg869Ter
NM_130832.3:c.2659C>T	NP_570845.1:p.Arg887Ter
NM_130834.3:c.2767C>T	NP_570847.2:p.Arg923Ter
NM_130836.3:c.2824C>T	NP_570849.2:p.Arg942Ter
NM_015560.3:c.2713C>T	NP_056375.2:p.Arg905Ter
NM_130833.3:c.2716C>T	NP_570846.1:p.Arg906Ter
NM_130835.3:c.2770C>T	NP_570848.1:p.Arg924Ter
NM_130837.3:c.2878C>T MANE Select	NP_570850.2:p.Arg960Ter