Canonical Allele Identifier: CA90558317

Gene: OPA1

Linked Data

• dbSNP Id: rs1034038465
• MyVariant Identifiers: chr3:g.193385034T>C (hg19) ; chr3:g.193667245T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193667245T>C , CM000665.2:g.193667245T>C	GRCh38
NC_000003.11:g.193385034T>C , CM000665.1:g.193385034T>C	GRCh37
NC_000003.10:g.194867728T>C	NCBI36
NG_011605.1:g.79102T>C , LRG_337:g.79102T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361510.8:c.2948T>C MANE Select	ENSP00000355324.2:p.Leu983Pro
ENST00000361828.7:c.2783T>C	ENSP00000354429.3:p.Leu928Pro
ENST00000361908.8:c.2894T>C	ENSP00000354681.3:p.Leu965Pro
ENST00000392436.7:c.2783T>C	ENSP00000376231.3:p.Leu928Pro
ENST00000392437.6:c.2837T>C	ENSP00000376232.2:p.Leu946Pro
ENST00000642289.1:c.2722T>C
ENST00000642445.1:c.2783T>C	ENSP00000495535.1:p.Leu928Pro
ENST00000642593.1:c.*1008T>C	ENSP00000494273.1:n.*1008T>C
ENST00000643329.1:c.2465T>C	ENSP00000493673.1:p.Leu822Pro
ENST00000643737.1:c.*2864T>C	ENSP00000494210.1:n.*2864T>C
ENST00000644595.1:c.2783T>C	ENSP00000494121.1:p.Leu928Pro
ENST00000644629.1:c.2370T>C
ENST00000644841.1:c.*1267T>C	ENSP00000493988.1:n.*1267T>C
ENST00000644959.1:c.2777T>C
ENST00000645553.1:c.2798T>C	ENSP00000494725.1:p.Leu933Pro
ENST00000646085.1:c.*2261T>C	ENSP00000494509.1:n.*2261T>C
ENST00000646277.1:c.*1384T>C	ENSP00000495289.1:n.*1384T>C
ENST00000646544.1:c.1771T>C
ENST00000646699.1:c.2722T>C
ENST00000646793.1:c.2675T>C	ENSP00000494512.1:p.Leu892Pro
ENST00000361150.6:c.2786T>C	ENSP00000354781.2:p.Leu929Pro
ENST00000361510.6:c.2948T>C	ENSP00000355324.2:p.Leu983Pro
ENST00000361715.6:c.2840T>C	ENSP00000355311.2:p.Leu947Pro
ENST00000361828.6:c.2837T>C	ENSP00000354429.2:p.Leu946Pro
ENST00000361908.7:c.2894T>C	ENSP00000354681.3:p.Leu965Pro
ENST00000392438.7:c.2783T>C	ENSP00000376233.3:p.Leu928Pro
ENST00000429164.1:c.70T>C
ENST00000445863.1:c.359T>C	ENSP00000398358.1:p.Leu120Pro
NM_015560.2:c.2783T>C , LRG_337t1:c.2783T>C	NP_056375.2:p.Leu928Pro
NM_130831.2:c.2675T>C	NP_570844.1:p.Leu892Pro
NM_130832.2:c.2729T>C	NP_570845.1:p.Leu910Pro
NM_130833.2:c.2786T>C	NP_570846.1:p.Leu929Pro
NM_130834.2:c.2837T>C	NP_570847.2:p.Leu946Pro
NM_130835.2:c.2840T>C	NP_570848.1:p.Leu947Pro
NM_130836.2:c.2894T>C	NP_570849.2:p.Leu965Pro
NM_130837.2:c.2948T>C , LRG_337t2:c.2948T>C	NP_570850.2:p.Leu983Pro
XM_011512863.1:c.2948T>C	XP_011511165.1:p.Leu983Pro
XM_011512864.1:c.2894T>C	XP_011511166.1:p.Leu965Pro
XM_011512865.1:c.2837T>C	XP_011511167.1:p.Leu946Pro
XM_011512866.1:c.2786T>C	XP_011511168.1:p.Leu929Pro
XM_011512867.1:c.2783T>C	XP_011511169.1:p.Leu928Pro
XM_011512868.1:c.2675T>C	XP_011511170.1:p.Leu892Pro
XR_924835.1:n.582+1675A>G
NM_001354663.1:c.2414T>C	NP_001341592.1:p.Leu805Pro
NM_001354664.1:c.2411T>C	NP_001341593.1:p.Leu804Pro
XR_001740158.2:n.3202T>C
XR_001740159.2:n.3037T>C
XR_001741072.1:n.600+1675A>G
XR_001741074.1:n.475+3563A>G
XR_924835.2:n.600+1675A>G
NM_001354663.2:c.2414T>C	NP_001341592.1:p.Leu805Pro
NM_001354664.2:c.2411T>C	NP_001341593.1:p.Leu804Pro
NM_130831.3:c.2675T>C	NP_570844.1:p.Leu892Pro
NM_130832.3:c.2729T>C	NP_570845.1:p.Leu910Pro
NM_130834.3:c.2837T>C	NP_570847.2:p.Leu946Pro
NM_130836.3:c.2894T>C	NP_570849.2:p.Leu965Pro
NM_015560.3:c.2783T>C	NP_056375.2:p.Leu928Pro
NM_130833.3:c.2786T>C	NP_570846.1:p.Leu929Pro
NM_130835.3:c.2840T>C	NP_570848.1:p.Leu947Pro
NM_130837.3:c.2948T>C MANE Select	NP_570850.2:p.Leu983Pro