Canonical Allele Identifier: CA355797849

Gene: OPA1

Linked Data

• MyVariant Identifiers: chr3:g.193385057G>C (hg19) ; chr3:g.193667268G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193667268G>C , CM000665.2:g.193667268G>C	GRCh38
NC_000003.11:g.193385057G>C , CM000665.1:g.193385057G>C	GRCh37
NC_000003.10:g.194867751G>C	NCBI36
NG_011605.1:g.79125G>C , LRG_337:g.79125G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361510.8:c.2971G>C MANE Select	ENSP00000355324.2:p.Ala991Pro
ENST00000361828.7:c.2806G>C	ENSP00000354429.3:p.Ala936Pro
ENST00000361908.8:c.2917G>C	ENSP00000354681.3:p.Ala973Pro
ENST00000392436.7:c.2806G>C	ENSP00000376231.3:p.Ala936Pro
ENST00000392437.6:c.2860G>C	ENSP00000376232.2:p.Ala954Pro
ENST00000642289.1:c.2745G>C
ENST00000642445.1:c.2806G>C	ENSP00000495535.1:p.Ala936Pro
ENST00000642593.1:c.*1031G>C	ENSP00000494273.1:n.*1031G>C
ENST00000643329.1:c.2488G>C	ENSP00000493673.1:p.Ala830Pro
ENST00000643737.1:c.*2887G>C	ENSP00000494210.1:n.*2887G>C
ENST00000644595.1:c.2806G>C	ENSP00000494121.1:p.Ala936Pro
ENST00000644629.1:c.2393G>C
ENST00000644841.1:c.*1290G>C	ENSP00000493988.1:n.*1290G>C
ENST00000644959.1:c.2800G>C
ENST00000645553.1:c.2821G>C	ENSP00000494725.1:p.Ala941Pro
ENST00000646085.1:c.*2284G>C	ENSP00000494509.1:n.*2284G>C
ENST00000646277.1:c.*1407G>C	ENSP00000495289.1:n.*1407G>C
ENST00000646544.1:c.1794G>C
ENST00000646699.1:c.2745G>C
ENST00000646793.1:c.2698G>C	ENSP00000494512.1:p.Ala900Pro
ENST00000361150.6:c.2809G>C	ENSP00000354781.2:p.Ala937Pro
ENST00000361510.6:c.2971G>C	ENSP00000355324.2:p.Ala991Pro
ENST00000361715.6:c.2863G>C	ENSP00000355311.2:p.Ala955Pro
ENST00000361828.6:c.2860G>C	ENSP00000354429.2:p.Ala954Pro
ENST00000361908.7:c.2917G>C	ENSP00000354681.3:p.Ala973Pro
ENST00000392438.7:c.2806G>C	ENSP00000376233.3:p.Ala936Pro
ENST00000429164.1:c.93G>C
ENST00000445863.1:c.382G>C	ENSP00000398358.1:p.Ala128Pro
NM_015560.2:c.2806G>C , LRG_337t1:c.2806G>C	NP_056375.2:p.Ala936Pro
NM_130831.2:c.2698G>C	NP_570844.1:p.Ala900Pro
NM_130832.2:c.2752G>C	NP_570845.1:p.Ala918Pro
NM_130833.2:c.2809G>C	NP_570846.1:p.Ala937Pro
NM_130834.2:c.2860G>C	NP_570847.2:p.Ala954Pro
NM_130835.2:c.2863G>C	NP_570848.1:p.Ala955Pro
NM_130836.2:c.2917G>C	NP_570849.2:p.Ala973Pro
NM_130837.2:c.2971G>C , LRG_337t2:c.2971G>C	NP_570850.2:p.Ala991Pro
XM_011512863.1:c.2971G>C	XP_011511165.1:p.Ala991Pro
XM_011512864.1:c.2917G>C	XP_011511166.1:p.Ala973Pro
XM_011512865.1:c.2860G>C	XP_011511167.1:p.Ala954Pro
XM_011512866.1:c.2809G>C	XP_011511168.1:p.Ala937Pro
XM_011512867.1:c.2806G>C	XP_011511169.1:p.Ala936Pro
XM_011512868.1:c.2698G>C	XP_011511170.1:p.Ala900Pro
XR_924835.1:n.582+1652C>G
NM_001354663.1:c.2437G>C	NP_001341592.1:p.Ala813Pro
NM_001354664.1:c.2434G>C	NP_001341593.1:p.Ala812Pro
XR_001740158.2:n.3225G>C
XR_001740159.2:n.3060G>C
XR_001741072.1:n.600+1652C>G
XR_001741074.1:n.475+3540C>G
XR_924835.2:n.600+1652C>G
NM_001354663.2:c.2437G>C	NP_001341592.1:p.Ala813Pro
NM_001354664.2:c.2434G>C	NP_001341593.1:p.Ala812Pro
NM_130831.3:c.2698G>C	NP_570844.1:p.Ala900Pro
NM_130832.3:c.2752G>C	NP_570845.1:p.Ala918Pro
NM_130834.3:c.2860G>C	NP_570847.2:p.Ala954Pro
NM_130836.3:c.2917G>C	NP_570849.2:p.Ala973Pro
NM_015560.3:c.2806G>C	NP_056375.2:p.Ala936Pro
NM_130833.3:c.2809G>C	NP_570846.1:p.Ala937Pro
NM_130835.3:c.2863G>C	NP_570848.1:p.Ala955Pro
NM_130837.3:c.2971G>C MANE Select	NP_570850.2:p.Ala991Pro