Canonical Allele Identifier: CA355797653

Gene: OPA1

Linked Data

• MyVariant Identifiers: chr3:g.193385032G>T (hg19) ; chr3:g.193667243G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193667243G>T , CM000665.2:g.193667243G>T	GRCh38
NC_000003.11:g.193385032G>T , CM000665.1:g.193385032G>T	GRCh37
NC_000003.10:g.194867726G>T	NCBI36
NG_011605.1:g.79100G>T , LRG_337:g.79100G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361510.8:c.2946G>T MANE Select	ENSP00000355324.2:p.Leu982Phe
ENST00000361828.7:c.2781G>T	ENSP00000354429.3:p.Leu927Phe
ENST00000361908.8:c.2892G>T	ENSP00000354681.3:p.Leu964Phe
ENST00000392436.7:c.2781G>T	ENSP00000376231.3:p.Leu927Phe
ENST00000392437.6:c.2835G>T	ENSP00000376232.2:p.Leu945Phe
ENST00000642289.1:c.2720G>T
ENST00000642445.1:c.2781G>T	ENSP00000495535.1:p.Leu927Phe
ENST00000642593.1:c.*1006G>T	ENSP00000494273.1:n.*1006G>T
ENST00000643329.1:c.2463G>T	ENSP00000493673.1:p.Leu821Phe
ENST00000643737.1:c.*2862G>T	ENSP00000494210.1:n.*2862G>T
ENST00000644595.1:c.2781G>T	ENSP00000494121.1:p.Leu927Phe
ENST00000644629.1:c.2368G>T
ENST00000644841.1:c.*1265G>T	ENSP00000493988.1:n.*1265G>T
ENST00000644959.1:c.2775G>T
ENST00000645553.1:c.2796G>T	ENSP00000494725.1:p.Leu932Phe
ENST00000646085.1:c.*2259G>T	ENSP00000494509.1:n.*2259G>T
ENST00000646277.1:c.*1382G>T	ENSP00000495289.1:n.*1382G>T
ENST00000646544.1:c.1769G>T
ENST00000646699.1:c.2720G>T
ENST00000646793.1:c.2673G>T	ENSP00000494512.1:p.Leu891Phe
ENST00000361150.6:c.2784G>T	ENSP00000354781.2:p.Leu928Phe
ENST00000361510.6:c.2946G>T	ENSP00000355324.2:p.Leu982Phe
ENST00000361715.6:c.2838G>T	ENSP00000355311.2:p.Leu946Phe
ENST00000361828.6:c.2835G>T	ENSP00000354429.2:p.Leu945Phe
ENST00000361908.7:c.2892G>T	ENSP00000354681.3:p.Leu964Phe
ENST00000392438.7:c.2781G>T	ENSP00000376233.3:p.Leu927Phe
ENST00000429164.1:c.68G>T
ENST00000445863.1:c.357G>T	ENSP00000398358.1:p.Leu119Phe
NM_015560.2:c.2781G>T , LRG_337t1:c.2781G>T	NP_056375.2:p.Leu927Phe
NM_130831.2:c.2673G>T	NP_570844.1:p.Leu891Phe
NM_130832.2:c.2727G>T	NP_570845.1:p.Leu909Phe
NM_130833.2:c.2784G>T	NP_570846.1:p.Leu928Phe
NM_130834.2:c.2835G>T	NP_570847.2:p.Leu945Phe
NM_130835.2:c.2838G>T	NP_570848.1:p.Leu946Phe
NM_130836.2:c.2892G>T	NP_570849.2:p.Leu964Phe
NM_130837.2:c.2946G>T , LRG_337t2:c.2946G>T	NP_570850.2:p.Leu982Phe
XM_011512863.1:c.2946G>T	XP_011511165.1:p.Leu982Phe
XM_011512864.1:c.2892G>T	XP_011511166.1:p.Leu964Phe
XM_011512865.1:c.2835G>T	XP_011511167.1:p.Leu945Phe
XM_011512866.1:c.2784G>T	XP_011511168.1:p.Leu928Phe
XM_011512867.1:c.2781G>T	XP_011511169.1:p.Leu927Phe
XM_011512868.1:c.2673G>T	XP_011511170.1:p.Leu891Phe
XR_924835.1:n.582+1677C>A
NM_001354663.1:c.2412G>T	NP_001341592.1:p.Leu804Phe
NM_001354664.1:c.2409G>T	NP_001341593.1:p.Leu803Phe
XR_001740158.2:n.3200G>T
XR_001740159.2:n.3035G>T
XR_001741072.1:n.600+1677C>A
XR_001741074.1:n.475+3565C>A
XR_924835.2:n.600+1677C>A
NM_001354663.2:c.2412G>T	NP_001341592.1:p.Leu804Phe
NM_001354664.2:c.2409G>T	NP_001341593.1:p.Leu803Phe
NM_130831.3:c.2673G>T	NP_570844.1:p.Leu891Phe
NM_130832.3:c.2727G>T	NP_570845.1:p.Leu909Phe
NM_130834.3:c.2835G>T	NP_570847.2:p.Leu945Phe
NM_130836.3:c.2892G>T	NP_570849.2:p.Leu964Phe
NM_015560.3:c.2781G>T	NP_056375.2:p.Leu927Phe
NM_130833.3:c.2784G>T	NP_570846.1:p.Leu928Phe
NM_130835.3:c.2838G>T	NP_570848.1:p.Leu946Phe
NM_130837.3:c.2946G>T MANE Select	NP_570850.2:p.Leu982Phe