Canonical Allele Identifier: CA355793051

Gene: OPA1

Linked Data

• MyVariant Identifiers: chr3:g.193380634T>G (hg19) ; chr3:g.193662845T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193662845T>G , CM000665.2:g.193662845T>G	GRCh38
NC_000003.11:g.193380634T>G , CM000665.1:g.193380634T>G	GRCh37
NC_000003.10:g.194863328T>G	NCBI36
NG_011605.1:g.74702T>G , LRG_337:g.74702T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361510.8:c.2544T>G MANE Select	ENSP00000355324.2:p.Asn848Lys
ENST00000361828.7:c.2379T>G	ENSP00000354429.3:p.Asn793Lys
ENST00000361908.8:c.2490T>G	ENSP00000354681.3:p.Asn830Lys
ENST00000392436.7:c.2379T>G	ENSP00000376231.3:p.Asn793Lys
ENST00000392437.6:c.2433T>G	ENSP00000376232.2:p.Asn811Lys
ENST00000642289.1:c.2318T>G
ENST00000642445.1:c.2379T>G	ENSP00000495535.1:p.Asn793Lys
ENST00000642593.1:c.*604T>G	ENSP00000494273.1:n.*604T>G
ENST00000643329.1:c.2061T>G	ENSP00000493673.1:p.Asn687Lys
ENST00000643737.1:c.*2460T>G	ENSP00000494210.1:n.*2460T>G
ENST00000644595.1:c.2379T>G	ENSP00000494121.1:p.Asn793Lys
ENST00000644629.1:c.1966T>G
ENST00000644841.1:c.*863T>G	ENSP00000493988.1:n.*863T>G
ENST00000644959.1:c.2373T>G
ENST00000645553.1:c.2394T>G	ENSP00000494725.1:p.Asn798Lys
ENST00000646085.1:c.*1857T>G	ENSP00000494509.1:n.*1857T>G
ENST00000646277.1:c.*980T>G	ENSP00000495289.1:n.*980T>G
ENST00000646544.1:c.1367T>G
ENST00000646699.1:c.2318T>G
ENST00000646793.1:c.2271T>G	ENSP00000494512.1:p.Asn757Lys
ENST00000361150.6:c.2382T>G	ENSP00000354781.2:p.Asn794Lys
ENST00000361510.6:c.2544T>G	ENSP00000355324.2:p.Asn848Lys
ENST00000361715.6:c.2436T>G	ENSP00000355311.2:p.Asn812Lys
ENST00000361828.6:c.2433T>G	ENSP00000354429.2:p.Asn811Lys
ENST00000361908.7:c.2490T>G	ENSP00000354681.3:p.Asn830Lys
ENST00000392438.7:c.2379T>G	ENSP00000376233.3:p.Asn793Lys
NM_015560.2:c.2379T>G , LRG_337t1:c.2379T>G	NP_056375.2:p.Asn793Lys
NM_130831.2:c.2271T>G	NP_570844.1:p.Asn757Lys
NM_130832.2:c.2325T>G	NP_570845.1:p.Asn775Lys
NM_130833.2:c.2382T>G	NP_570846.1:p.Asn794Lys
NM_130834.2:c.2433T>G	NP_570847.2:p.Asn811Lys
NM_130835.2:c.2436T>G	NP_570848.1:p.Asn812Lys
NM_130836.2:c.2490T>G	NP_570849.2:p.Asn830Lys
NM_130837.2:c.2544T>G , LRG_337t2:c.2544T>G	NP_570850.2:p.Asn848Lys
XM_011512863.1:c.2544T>G	XP_011511165.1:p.Asn848Lys
XM_011512864.1:c.2490T>G	XP_011511166.1:p.Asn830Lys
XM_011512865.1:c.2433T>G	XP_011511167.1:p.Asn811Lys
XM_011512866.1:c.2382T>G	XP_011511168.1:p.Asn794Lys
XM_011512867.1:c.2379T>G	XP_011511169.1:p.Asn793Lys
XM_011512868.1:c.2271T>G	XP_011511170.1:p.Asn757Lys
XR_924835.1:n.582+6075A>C
NM_001354663.1:c.2010T>G	NP_001341592.1:p.Asn670Lys
NM_001354664.1:c.2007T>G	NP_001341593.1:p.Asn669Lys
XR_001740158.2:n.2798T>G
XR_001740159.2:n.2633T>G
XR_001741072.1:n.601-2760A>C
XR_001741074.1:n.475+7963A>C
XR_924835.2:n.600+6075A>C
NM_001354663.2:c.2010T>G	NP_001341592.1:p.Asn670Lys
NM_001354664.2:c.2007T>G	NP_001341593.1:p.Asn669Lys
NM_130831.3:c.2271T>G	NP_570844.1:p.Asn757Lys
NM_130832.3:c.2325T>G	NP_570845.1:p.Asn775Lys
NM_130834.3:c.2433T>G	NP_570847.2:p.Asn811Lys
NM_130836.3:c.2490T>G	NP_570849.2:p.Asn830Lys
NM_015560.3:c.2379T>G	NP_056375.2:p.Asn793Lys
NM_130833.3:c.2382T>G	NP_570846.1:p.Asn794Lys
NM_130835.3:c.2436T>G	NP_570848.1:p.Asn812Lys
NM_130837.3:c.2544T>G MANE Select	NP_570850.2:p.Asn848Lys