Canonical Allele Identifier: CA355797935

Gene: OPA1

Linked Data

• MyVariant Identifiers: chr3:g.193385069A>C (hg19) ; chr3:g.193667280A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193667280A>C , CM000665.2:g.193667280A>C	GRCh38
NC_000003.11:g.193385069A>C , CM000665.1:g.193385069A>C	GRCh37
NC_000003.10:g.194867763A>C	NCBI36
NG_011605.1:g.79137A>C , LRG_337:g.79137A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361510.8:c.2983A>C MANE Select	ENSP00000355324.2:p.Lys995Gln
ENST00000361828.7:c.2818A>C	ENSP00000354429.3:p.Lys940Gln
ENST00000361908.8:c.2929A>C	ENSP00000354681.3:p.Lys977Gln
ENST00000392436.7:c.2818A>C	ENSP00000376231.3:p.Lys940Gln
ENST00000392437.6:c.2872A>C	ENSP00000376232.2:p.Lys958Gln
ENST00000642289.1:c.2757A>C
ENST00000642445.1:c.2818A>C	ENSP00000495535.1:p.Lys940Gln
ENST00000642593.1:c.*1043A>C	ENSP00000494273.1:n.*1043A>C
ENST00000643329.1:c.2500A>C	ENSP00000493673.1:p.Lys834Gln
ENST00000643737.1:c.*2899A>C	ENSP00000494210.1:n.*2899A>C
ENST00000644595.1:c.2818A>C	ENSP00000494121.1:p.Thr940Pro
ENST00000644629.1:c.2405A>C
ENST00000644841.1:c.*1302A>C	ENSP00000493988.1:n.*1302A>C
ENST00000644959.1:c.2812A>C
ENST00000645553.1:c.2833A>C	ENSP00000494725.1:p.Lys945Gln
ENST00000646085.1:c.*2296A>C	ENSP00000494509.1:n.*2296A>C
ENST00000646277.1:c.*1419A>C	ENSP00000495289.1:n.*1419A>C
ENST00000646544.1:c.1806A>C
ENST00000646699.1:c.2757A>C
ENST00000646793.1:c.2710A>C	ENSP00000494512.1:p.Lys904Gln
ENST00000361150.6:c.2821A>C	ENSP00000354781.2:p.Lys941Gln
ENST00000361510.6:c.2983A>C	ENSP00000355324.2:p.Lys995Gln
ENST00000361715.6:c.2875A>C	ENSP00000355311.2:p.Lys959Gln
ENST00000361828.6:c.2872A>C	ENSP00000354429.2:p.Lys958Gln
ENST00000361908.7:c.2929A>C	ENSP00000354681.3:p.Lys977Gln
ENST00000392438.7:c.2818A>C	ENSP00000376233.3:p.Lys940Gln
ENST00000429164.1:c.105A>C
ENST00000445863.1:c.394A>C	ENSP00000398358.1:p.Lys132Gln
NM_015560.2:c.2818A>C , LRG_337t1:c.2818A>C	NP_056375.2:p.Lys940Gln
NM_130831.2:c.2710A>C	NP_570844.1:p.Lys904Gln
NM_130832.2:c.2764A>C	NP_570845.1:p.Lys922Gln
NM_130833.2:c.2821A>C	NP_570846.1:p.Lys941Gln
NM_130834.2:c.2872A>C	NP_570847.2:p.Lys958Gln
NM_130835.2:c.2875A>C	NP_570848.1:p.Lys959Gln
NM_130836.2:c.2929A>C	NP_570849.2:p.Lys977Gln
NM_130837.2:c.2983A>C , LRG_337t2:c.2983A>C	NP_570850.2:p.Lys995Gln
XM_011512863.1:c.2983A>C	XP_011511165.1:p.Ile995Leu
XM_011512864.1:c.2929A>C	XP_011511166.1:p.Ile977Leu
XM_011512865.1:c.2872A>C	XP_011511167.1:p.Ile958Leu
XM_011512866.1:c.2821A>C	XP_011511168.1:p.Ile941Leu
XM_011512867.1:c.2818A>C	XP_011511169.1:p.Ile940Leu
XM_011512868.1:c.2710A>C	XP_011511170.1:p.Ile904Leu
XR_924835.1:n.582+1640T>G
NM_001354663.1:c.2449A>C	NP_001341592.1:p.Lys817Gln
NM_001354664.1:c.2446A>C	NP_001341593.1:p.Lys816Gln
XR_001740158.2:n.3237A>C
XR_001740159.2:n.3072A>C
XR_001741072.1:n.600+1640T>G
XR_001741074.1:n.475+3528T>G
XR_924835.2:n.600+1640T>G
NM_001354663.2:c.2449A>C	NP_001341592.1:p.Lys817Gln
NM_001354664.2:c.2446A>C	NP_001341593.1:p.Lys816Gln
NM_130831.3:c.2710A>C	NP_570844.1:p.Lys904Gln
NM_130832.3:c.2764A>C	NP_570845.1:p.Lys922Gln
NM_130834.3:c.2872A>C	NP_570847.2:p.Lys958Gln
NM_130836.3:c.2929A>C	NP_570849.2:p.Lys977Gln
NM_015560.3:c.2818A>C	NP_056375.2:p.Lys940Gln
NM_130833.3:c.2821A>C	NP_570846.1:p.Lys941Gln
NM_130835.3:c.2875A>C	NP_570848.1:p.Lys959Gln
NM_130837.3:c.2983A>C MANE Select	NP_570850.2:p.Lys995Gln