Canonical Allele Identifier: CA355788797

Gene: OPA1

Linked Data

• MyVariant Identifiers: chr3:g.193360563A>C (hg19) ; chr3:g.193642774A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193642774A>C , CM000665.2:g.193642774A>C	GRCh38
NC_000003.11:g.193360563A>C , CM000665.1:g.193360563A>C	GRCh37
NC_000003.10:g.194843257A>C	NCBI36
NG_011605.1:g.54631A>C , LRG_337:g.54631A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361510.8:c.1159A>C MANE Select	ENSP00000355324.2:p.Ser387Arg
ENST00000361828.7:c.994A>C	ENSP00000354429.3:p.Ser332Arg
ENST00000361908.8:c.1105A>C	ENSP00000354681.3:p.Ser369Arg
ENST00000392436.7:c.994A>C	ENSP00000376231.3:p.Ser332Arg
ENST00000392437.6:c.1048A>C	ENSP00000376232.2:p.Ser350Arg
ENST00000642289.1:c.1080-599A>C
ENST00000642445.1:c.994A>C	ENSP00000495535.1:p.Ser332Arg
ENST00000642593.1:c.994A>C	ENSP00000494273.1:p.Ser332Arg
ENST00000643329.1:c.676A>C	ENSP00000493673.1:p.Ser226Arg
ENST00000643737.1:c.*1075A>C	ENSP00000494210.1:n.*1075A>C
ENST00000644595.1:c.994A>C	ENSP00000494121.1:p.Ser332Arg
ENST00000644629.1:c.654A>C
ENST00000644841.1:c.622A>C	ENSP00000493988.1:p.Ser208Arg
ENST00000644959.1:c.963A>C
ENST00000645553.1:c.1009A>C	ENSP00000494725.1:p.Ser337Arg
ENST00000646085.1:c.*472A>C	ENSP00000494509.1:n.*472A>C
ENST00000646277.1:c.1159A>C	ENSP00000495289.1:p.Ser387Arg
ENST00000646544.1:c.57A>C
ENST00000646699.1:c.1080-599A>C
ENST00000646793.1:c.886A>C	ENSP00000494512.1:p.Ser296Arg
ENST00000361150.6:c.997A>C	ENSP00000354781.2:p.Ser333Arg
ENST00000361510.6:c.1159A>C	ENSP00000355324.2:p.Ser387Arg
ENST00000361715.6:c.1051A>C	ENSP00000355311.2:p.Ser351Arg
ENST00000361828.6:c.1048A>C	ENSP00000354429.2:p.Ser350Arg
ENST00000361908.7:c.1105A>C	ENSP00000354681.3:p.Ser369Arg
ENST00000392438.7:c.994A>C	ENSP00000376233.3:p.Ser332Arg
ENST00000475899.1:n.190A>C
ENST00000497189.5:n.480A>C
NM_015560.2:c.994A>C , LRG_337t1:c.994A>C	NP_056375.2:p.Ser332Arg
NM_130831.2:c.886A>C	NP_570844.1:p.Ser296Arg
NM_130832.2:c.940A>C	NP_570845.1:p.Ser314Arg
NM_130833.2:c.997A>C	NP_570846.1:p.Ser333Arg
NM_130834.2:c.1048A>C	NP_570847.2:p.Ser350Arg
NM_130835.2:c.1051A>C	NP_570848.1:p.Ser351Arg
NM_130836.2:c.1105A>C	NP_570849.2:p.Ser369Arg
NM_130837.2:c.1159A>C , LRG_337t2:c.1159A>C	NP_570850.2:p.Ser387Arg
XM_011512863.1:c.1159A>C	XP_011511165.1:p.Ser387Arg
XM_011512864.1:c.1105A>C	XP_011511166.1:p.Ser369Arg
XM_011512865.1:c.1048A>C	XP_011511167.1:p.Ser350Arg
XM_011512866.1:c.997A>C	XP_011511168.1:p.Ser333Arg
XM_011512867.1:c.994A>C	XP_011511169.1:p.Ser332Arg
XM_011512868.1:c.886A>C	XP_011511170.1:p.Ser296Arg
XM_011512869.1:c.1159A>C	XP_011511171.1:p.Ser387Arg
NM_001354663.1:c.625A>C	NP_001341592.1:p.Ser209Arg
NM_001354664.1:c.622A>C	NP_001341593.1:p.Ser208Arg
XR_001740158.2:n.1388A>C
XR_001740159.2:n.1223A>C
NM_001354663.2:c.625A>C	NP_001341592.1:p.Ser209Arg
NM_001354664.2:c.622A>C	NP_001341593.1:p.Ser208Arg
NM_130831.3:c.886A>C	NP_570844.1:p.Ser296Arg
NM_130832.3:c.940A>C	NP_570845.1:p.Ser314Arg
NM_130834.3:c.1048A>C	NP_570847.2:p.Ser350Arg
NM_130836.3:c.1105A>C	NP_570849.2:p.Ser369Arg
NM_015560.3:c.994A>C	NP_056375.2:p.Ser332Arg
NM_130833.3:c.997A>C	NP_570846.1:p.Ser333Arg
NM_130835.3:c.1051A>C	NP_570848.1:p.Ser351Arg
NM_130837.3:c.1159A>C MANE Select	NP_570850.2:p.Ser387Arg