Canonical Allele Identifier: CA2586973330

Gene: OPA1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193647138dup , CM000665.2:g.193647138dup	GRCh38
NC_000003.11:g.193364927dup , CM000665.1:g.193364927dup	GRCh37
NC_000003.10:g.194847621dup	NCBI36
NG_011605.1:g.58995dup , LRG_337:g.58995dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000361510.8:c.1828dup MANE Select	ENSP00000355324.2:p.Met610AsnfsTer7
ENST00000361828.7:c.1663dup	ENSP00000354429.3:p.Met555AsnfsTer7
ENST00000361908.8:c.1774dup	ENSP00000354681.3:p.Met592AsnfsTer7
ENST00000392436.7:c.1663dup	ENSP00000376231.3:p.Met555AsnfsTer7
ENST00000392437.6:c.1717dup	ENSP00000376232.2:p.Met573AsnfsTer7
ENST00000642289.1:c.1602dup
ENST00000642445.1:c.1663dup	ENSP00000495535.1:p.Met555AsnfsTer7
ENST00000642593.1:c.1663dup	ENSP00000494273.1:p.Met555AsnfsTer7
ENST00000643329.1:c.1345dup	ENSP00000493673.1:p.Met449AsnfsTer7
ENST00000643737.1:c.*1744dup	ENSP00000494210.1:n.*1744dup
ENST00000644595.1:c.1663dup	ENSP00000494121.1:p.Met555AsnfsTer7
ENST00000644629.1:c.1250dup
ENST00000644841.1:c.*147dup	ENSP00000493988.1:n.*147dup
ENST00000644959.1:c.1632dup
ENST00000645553.1:c.1678dup	ENSP00000494725.1:p.Met560AsnfsTer7
ENST00000646085.1:c.*1141dup	ENSP00000494509.1:n.*1141dup
ENST00000646277.1:c.*264dup	ENSP00000495289.1:n.*264dup
ENST00000646544.1:c.651dup
ENST00000646699.1:c.1602dup
ENST00000646793.1:c.1555dup	ENSP00000494512.1:p.Met519AsnfsTer7
ENST00000361150.6:c.1666dup	ENSP00000354781.2:p.Met556AsnfsTer7
ENST00000361510.6:c.1828dup	ENSP00000355324.2:p.Met610AsnfsTer7
ENST00000361715.6:c.1720dup	ENSP00000355311.2:p.Met574AsnfsTer7
ENST00000361828.6:c.1717dup	ENSP00000354429.2:p.Met573AsnfsTer7
ENST00000361908.7:c.1774dup	ENSP00000354681.3:p.Met592AsnfsTer7
ENST00000392438.7:c.1663dup	ENSP00000376233.3:p.Met555AsnfsTer7
ENST00000483516.1:n.161dup
NM_015560.2:c.1663dup , LRG_337t1:c.1663dup	NP_056375.2:p.Met555AsnfsTer7
NM_130831.2:c.1555dup	NP_570844.1:p.Met519AsnfsTer7
NM_130832.2:c.1609dup	NP_570845.1:p.Met537AsnfsTer7
NM_130833.2:c.1666dup	NP_570846.1:p.Met556AsnfsTer7
NM_130834.2:c.1717dup	NP_570847.2:p.Met573AsnfsTer7
NM_130835.2:c.1720dup	NP_570848.1:p.Met574AsnfsTer7
NM_130836.2:c.1774dup	NP_570849.2:p.Met592AsnfsTer7
NM_130837.2:c.1828dup , LRG_337t2:c.1828dup	NP_570850.2:p.Met610AsnfsTer7
XM_011512863.1:c.1828dup	XP_011511165.1:p.Met610AsnfsTer7
XM_011512864.1:c.1774dup	XP_011511166.1:p.Met592AsnfsTer7
XM_011512865.1:c.1717dup	XP_011511167.1:p.Met573AsnfsTer7
XM_011512866.1:c.1666dup	XP_011511168.1:p.Met556AsnfsTer7
XM_011512867.1:c.1663dup	XP_011511169.1:p.Met555AsnfsTer7
XM_011512868.1:c.1555dup	XP_011511170.1:p.Met519AsnfsTer7
XM_011512869.1:c.1828dup	XP_011511171.1:p.Met610AsnfsTer7
NM_001354663.1:c.1294dup	NP_001341592.1:p.Met432AsnfsTer7
NM_001354664.1:c.1291dup	NP_001341593.1:p.Met431AsnfsTer7
XR_001740158.2:n.2057dup
XR_001740159.2:n.1892dup
NM_001354663.2:c.1294dup	NP_001341592.1:p.Met432AsnfsTer7
NM_001354664.2:c.1291dup	NP_001341593.1:p.Met431AsnfsTer7
NM_130831.3:c.1555dup	NP_570844.1:p.Met519AsnfsTer7
NM_130832.3:c.1609dup	NP_570845.1:p.Met537AsnfsTer7
NM_130834.3:c.1717dup	NP_570847.2:p.Met573AsnfsTer7
NM_130836.3:c.1774dup	NP_570849.2:p.Met592AsnfsTer7
NM_015560.3:c.1663dup	NP_056375.2:p.Met555AsnfsTer7
NM_130833.3:c.1666dup	NP_570846.1:p.Met556AsnfsTer7
NM_130835.3:c.1720dup	NP_570848.1:p.Met574AsnfsTer7
NM_130837.3:c.1828dup MANE Select	NP_570850.2:p.Met610AsnfsTer7