Canonical Allele Identifier: CA355790418

Gene: OPA1

Linked Data

• MyVariant Identifiers: chr3:g.193364889G>C (hg19) ; chr3:g.193647100G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193647100G>C , CM000665.2:g.193647100G>C	GRCh38
NC_000003.11:g.193364889G>C , CM000665.1:g.193364889G>C	GRCh37
NC_000003.10:g.194847583G>C	NCBI36
NG_011605.1:g.58957G>C , LRG_337:g.58957G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361510.8:c.1790G>C MANE Select	ENSP00000355324.2:p.Arg597Thr
ENST00000361828.7:c.1625G>C	ENSP00000354429.3:p.Arg542Thr
ENST00000361908.8:c.1736G>C	ENSP00000354681.3:p.Arg579Thr
ENST00000392436.7:c.1625G>C	ENSP00000376231.3:p.Arg542Thr
ENST00000392437.6:c.1679G>C	ENSP00000376232.2:p.Arg560Thr
ENST00000642289.1:c.1564G>C
ENST00000642445.1:c.1625G>C	ENSP00000495535.1:p.Arg542Thr
ENST00000642593.1:c.1625G>C	ENSP00000494273.1:p.Arg542Thr
ENST00000643329.1:c.1307G>C	ENSP00000493673.1:p.Arg436Thr
ENST00000643737.1:c.*1706G>C	ENSP00000494210.1:n.*1706G>C
ENST00000644595.1:c.1625G>C	ENSP00000494121.1:p.Arg542Thr
ENST00000644629.1:c.1212G>C
ENST00000644841.1:c.*109G>C	ENSP00000493988.1:n.*109G>C
ENST00000644959.1:c.1594G>C
ENST00000645553.1:c.1640G>C	ENSP00000494725.1:p.Arg547Thr
ENST00000646085.1:c.*1103G>C	ENSP00000494509.1:n.*1103G>C
ENST00000646277.1:c.*226G>C	ENSP00000495289.1:n.*226G>C
ENST00000646544.1:c.613G>C
ENST00000646699.1:c.1564G>C
ENST00000646793.1:c.1517G>C	ENSP00000494512.1:p.Arg506Thr
ENST00000361150.6:c.1628G>C	ENSP00000354781.2:p.Arg543Thr
ENST00000361510.6:c.1790G>C	ENSP00000355324.2:p.Arg597Thr
ENST00000361715.6:c.1682G>C	ENSP00000355311.2:p.Arg561Thr
ENST00000361828.6:c.1679G>C	ENSP00000354429.2:p.Arg560Thr
ENST00000361908.7:c.1736G>C	ENSP00000354681.3:p.Arg579Thr
ENST00000392438.7:c.1625G>C	ENSP00000376233.3:p.Arg542Thr
ENST00000483516.1:n.123G>C
NM_015560.2:c.1625G>C , LRG_337t1:c.1625G>C	NP_056375.2:p.Arg542Thr
NM_130831.2:c.1517G>C	NP_570844.1:p.Arg506Thr
NM_130832.2:c.1571G>C	NP_570845.1:p.Arg524Thr
NM_130833.2:c.1628G>C	NP_570846.1:p.Arg543Thr
NM_130834.2:c.1679G>C	NP_570847.2:p.Arg560Thr
NM_130835.2:c.1682G>C	NP_570848.1:p.Arg561Thr
NM_130836.2:c.1736G>C	NP_570849.2:p.Arg579Thr
NM_130837.2:c.1790G>C , LRG_337t2:c.1790G>C	NP_570850.2:p.Arg597Thr
XM_011512863.1:c.1790G>C	XP_011511165.1:p.Arg597Thr
XM_011512864.1:c.1736G>C	XP_011511166.1:p.Arg579Thr
XM_011512865.1:c.1679G>C	XP_011511167.1:p.Arg560Thr
XM_011512866.1:c.1628G>C	XP_011511168.1:p.Arg543Thr
XM_011512867.1:c.1625G>C	XP_011511169.1:p.Arg542Thr
XM_011512868.1:c.1517G>C	XP_011511170.1:p.Arg506Thr
XM_011512869.1:c.1790G>C	XP_011511171.1:p.Arg597Thr
NM_001354663.1:c.1256G>C	NP_001341592.1:p.Arg419Thr
NM_001354664.1:c.1253G>C	NP_001341593.1:p.Arg418Thr
XR_001740158.2:n.2019G>C
XR_001740159.2:n.1854G>C
NM_001354663.2:c.1256G>C	NP_001341592.1:p.Arg419Thr
NM_001354664.2:c.1253G>C	NP_001341593.1:p.Arg418Thr
NM_130831.3:c.1517G>C	NP_570844.1:p.Arg506Thr
NM_130832.3:c.1571G>C	NP_570845.1:p.Arg524Thr
NM_130834.3:c.1679G>C	NP_570847.2:p.Arg560Thr
NM_130836.3:c.1736G>C	NP_570849.2:p.Arg579Thr
NM_015560.3:c.1625G>C	NP_056375.2:p.Arg542Thr
NM_130833.3:c.1628G>C	NP_570846.1:p.Arg543Thr
NM_130835.3:c.1682G>C	NP_570848.1:p.Arg561Thr
NM_130837.3:c.1790G>C MANE Select	NP_570850.2:p.Arg597Thr