Canonical Allele Identifier: CA658657368

Gene: OPA1

Linked Data

• ClinVar Variation Id: 447902
• ClinVar RCV Id: RCV000518742
• dbSNP Id: rs1553788117
• MyVariant Identifiers: chr3:g.193385072G>C (hg19) ; chr3:g.193667283G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193667283G>C , CM000665.2:g.193667283G>C	GRCh38
NC_000003.11:g.193385072G>C , CM000665.1:g.193385072G>C	GRCh37
NC_000003.10:g.194867766G>C	NCBI36
NG_011605.1:g.79140G>C , LRG_337:g.79140G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000361510.8:c.2983+3G>C MANE Select	ENSP00000355324.2:n.2983+3G>C
ENST00000361828.7:c.2818+3G>C	ENSP00000354429.3:n.2818+3G>C
ENST00000361908.8:c.2929+3G>C	ENSP00000354681.3:n.2929+3G>C
ENST00000392436.7:c.2818+3G>C	ENSP00000376231.3:n.2818+3G>C
ENST00000392437.6:c.2872+3G>C	ENSP00000376232.2:n.2872+3G>C
ENST00000642289.1:c.2757+3G>C
ENST00000642445.1:c.2818+3G>C	ENSP00000495535.1:n.2818+3G>C
ENST00000642593.1:c.*1043+3G>C	ENSP00000494273.1:n.*1043+3G>C
ENST00000643329.1:c.2500+3G>C	ENSP00000493673.1:n.2500+3G>C
ENST00000643737.1:c.*2899+3G>C	ENSP00000494210.1:n.*2899+3G>C
ENST00000644595.1:c.2818+3G>C	ENSP00000494121.1:n.2818+3G>C
ENST00000644629.1:c.2405+3G>C
ENST00000644841.1:c.*1302+3G>C	ENSP00000493988.1:n.*1302+3G>C
ENST00000644959.1:c.2812+3G>C
ENST00000645553.1:c.2833+3G>C	ENSP00000494725.1:n.2833+3G>C
ENST00000646085.1:c.*2296+3G>C	ENSP00000494509.1:n.*2296+3G>C
ENST00000646277.1:c.*1419+3G>C	ENSP00000495289.1:n.*1419+3G>C
ENST00000646544.1:c.1806+3G>C
ENST00000646699.1:c.2757+3G>C
ENST00000646793.1:c.2710+3G>C	ENSP00000494512.1:n.2710+3G>C
ENST00000361150.6:c.2821+3G>C	ENSP00000354781.2:n.2821+3G>C
ENST00000361510.6:c.2983+3G>C	ENSP00000355324.2:n.2983+3G>C
ENST00000361715.6:c.2875+3G>C	ENSP00000355311.2:n.2875+3G>C
ENST00000361828.6:c.2872+3G>C	ENSP00000354429.2:n.2872+3G>C
ENST00000361908.7:c.2929+3G>C	ENSP00000354681.3:n.2929+3G>C
ENST00000392438.7:c.2818+3G>C	ENSP00000376233.3:n.2818+3G>C
ENST00000429164.1:c.105+3G>C
ENST00000445863.1:c.394+3G>C	ENSP00000398358.1:n.394+3G>C
NM_015560.2:c.2818+3G>C , LRG_337t1:c.2818+3G>C	NP_056375.2:n.2818+3G>C
NM_130831.2:c.2710+3G>C	NP_570844.1:n.2710+3G>C
NM_130832.2:c.2764+3G>C	NP_570845.1:n.2764+3G>C
NM_130833.2:c.2821+3G>C	NP_570846.1:n.2821+3G>C
NM_130834.2:c.2872+3G>C	NP_570847.2:n.2872+3G>C
NM_130835.2:c.2875+3G>C	NP_570848.1:n.2875+3G>C
NM_130836.2:c.2929+3G>C	NP_570849.2:n.2929+3G>C
NM_130837.2:c.2983+3G>C , LRG_337t2:c.2983+3G>C	NP_570850.2:n.2983+3G>C
XM_011512863.1:c.2983+3G>C	XP_011511165.1:n.2983+3G>C
XM_011512864.1:c.2929+3G>C	XP_011511166.1:n.2929+3G>C
XM_011512865.1:c.2872+3G>C	XP_011511167.1:n.2872+3G>C
XM_011512866.1:c.2821+3G>C	XP_011511168.1:n.2821+3G>C
XM_011512867.1:c.2818+3G>C	XP_011511169.1:n.2818+3G>C
XM_011512868.1:c.2710+3G>C	XP_011511170.1:n.2710+3G>C
XR_924835.1:n.582+1637C>G
NM_001354663.1:c.2449+3G>C	NP_001341592.1:n.2449+3G>C
NM_001354664.1:c.2446+3G>C	NP_001341593.1:n.2446+3G>C
XR_001740158.2:n.3237+3G>C
XR_001740159.2:n.3072+3G>C
XR_001741072.1:n.600+1637C>G
XR_001741074.1:n.475+3525C>G
XR_924835.2:n.600+1637C>G
NM_001354663.2:c.2449+3G>C	NP_001341592.1:n.2449+3G>C
NM_001354664.2:c.2446+3G>C	NP_001341593.1:n.2446+3G>C
NM_130831.3:c.2710+3G>C	NP_570844.1:n.2710+3G>C
NM_130832.3:c.2764+3G>C	NP_570845.1:n.2764+3G>C
NM_130834.3:c.2872+3G>C	NP_570847.2:n.2872+3G>C
NM_130836.3:c.2929+3G>C	NP_570849.2:n.2929+3G>C
NM_015560.3:c.2818+3G>C	NP_056375.2:n.2818+3G>C
NM_130833.3:c.2821+3G>C	NP_570846.1:n.2821+3G>C
NM_130835.3:c.2875+3G>C	NP_570848.1:n.2875+3G>C
NM_130837.3:c.2983+3G>C MANE Select	NP_570850.2:n.2983+3G>C