Canonical Allele Identifier: CA355797171

Gene: OPA1

Linked Data

• MyVariant Identifiers: chr3:g.193384974A>C (hg19) ; chr3:g.193667185A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193667185A>C , CM000665.2:g.193667185A>C	GRCh38
NC_000003.11:g.193384974A>C , CM000665.1:g.193384974A>C	GRCh37
NC_000003.10:g.194867668A>C	NCBI36
NG_011605.1:g.79042A>C , LRG_337:g.79042A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361510.8:c.2888A>C MANE Select	ENSP00000355324.2:p.Lys963Thr
ENST00000361828.7:c.2723A>C	ENSP00000354429.3:p.Lys908Thr
ENST00000361908.8:c.2834A>C	ENSP00000354681.3:p.Lys945Thr
ENST00000392436.7:c.2723A>C	ENSP00000376231.3:p.Lys908Thr
ENST00000392437.6:c.2777A>C	ENSP00000376232.2:p.Lys926Thr
ENST00000642289.1:c.2662A>C
ENST00000642445.1:c.2723A>C	ENSP00000495535.1:p.Lys908Thr
ENST00000642593.1:c.*948A>C	ENSP00000494273.1:n.*948A>C
ENST00000643329.1:c.2405A>C	ENSP00000493673.1:p.Lys802Thr
ENST00000643737.1:c.*2804A>C	ENSP00000494210.1:n.*2804A>C
ENST00000644595.1:c.2723A>C	ENSP00000494121.1:p.Lys908Thr
ENST00000644629.1:c.2310A>C
ENST00000644841.1:c.*1207A>C	ENSP00000493988.1:n.*1207A>C
ENST00000644959.1:c.2717A>C
ENST00000645553.1:c.2738A>C	ENSP00000494725.1:p.Lys913Thr
ENST00000646085.1:c.*2201A>C	ENSP00000494509.1:n.*2201A>C
ENST00000646277.1:c.*1324A>C	ENSP00000495289.1:n.*1324A>C
ENST00000646544.1:c.1711A>C
ENST00000646699.1:c.2662A>C
ENST00000646793.1:c.2615A>C	ENSP00000494512.1:p.Lys872Thr
ENST00000361150.6:c.2726A>C	ENSP00000354781.2:p.Lys909Thr
ENST00000361510.6:c.2888A>C	ENSP00000355324.2:p.Lys963Thr
ENST00000361715.6:c.2780A>C	ENSP00000355311.2:p.Lys927Thr
ENST00000361828.6:c.2777A>C	ENSP00000354429.2:p.Lys926Thr
ENST00000361908.7:c.2834A>C	ENSP00000354681.3:p.Lys945Thr
ENST00000392438.7:c.2723A>C	ENSP00000376233.3:p.Lys908Thr
ENST00000429164.1:c.10A>C
ENST00000445863.1:c.299A>C	ENSP00000398358.1:p.Lys100Thr
NM_015560.2:c.2723A>C , LRG_337t1:c.2723A>C	NP_056375.2:p.Lys908Thr
NM_130831.2:c.2615A>C	NP_570844.1:p.Lys872Thr
NM_130832.2:c.2669A>C	NP_570845.1:p.Lys890Thr
NM_130833.2:c.2726A>C	NP_570846.1:p.Lys909Thr
NM_130834.2:c.2777A>C	NP_570847.2:p.Lys926Thr
NM_130835.2:c.2780A>C	NP_570848.1:p.Lys927Thr
NM_130836.2:c.2834A>C	NP_570849.2:p.Lys945Thr
NM_130837.2:c.2888A>C , LRG_337t2:c.2888A>C	NP_570850.2:p.Lys963Thr
XM_011512863.1:c.2888A>C	XP_011511165.1:p.Lys963Thr
XM_011512864.1:c.2834A>C	XP_011511166.1:p.Lys945Thr
XM_011512865.1:c.2777A>C	XP_011511167.1:p.Lys926Thr
XM_011512866.1:c.2726A>C	XP_011511168.1:p.Lys909Thr
XM_011512867.1:c.2723A>C	XP_011511169.1:p.Lys908Thr
XM_011512868.1:c.2615A>C	XP_011511170.1:p.Lys872Thr
XR_924835.1:n.582+1735T>G
NM_001354663.1:c.2354A>C	NP_001341592.1:p.Lys785Thr
NM_001354664.1:c.2351A>C	NP_001341593.1:p.Lys784Thr
XR_001740158.2:n.3142A>C
XR_001740159.2:n.2977A>C
XR_001741072.1:n.600+1735T>G
XR_001741074.1:n.475+3623T>G
XR_924835.2:n.600+1735T>G
NM_001354663.2:c.2354A>C	NP_001341592.1:p.Lys785Thr
NM_001354664.2:c.2351A>C	NP_001341593.1:p.Lys784Thr
NM_130831.3:c.2615A>C	NP_570844.1:p.Lys872Thr
NM_130832.3:c.2669A>C	NP_570845.1:p.Lys890Thr
NM_130834.3:c.2777A>C	NP_570847.2:p.Lys926Thr
NM_130836.3:c.2834A>C	NP_570849.2:p.Lys945Thr
NM_015560.3:c.2723A>C	NP_056375.2:p.Lys908Thr
NM_130833.3:c.2726A>C	NP_570846.1:p.Lys909Thr
NM_130835.3:c.2780A>C	NP_570848.1:p.Lys927Thr
NM_130837.3:c.2888A>C MANE Select	NP_570850.2:p.Lys963Thr