Canonical Allele Identifier: CA355790393

Gene: OPA1

Linked Data

• MyVariant Identifiers: chr3:g.193364877A>C (hg19) ; chr3:g.193647088A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193647088A>C , CM000665.2:g.193647088A>C	GRCh38
NC_000003.11:g.193364877A>C , CM000665.1:g.193364877A>C	GRCh37
NC_000003.10:g.194847571A>C	NCBI36
NG_011605.1:g.58945A>C , LRG_337:g.58945A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361510.8:c.1778A>C MANE Select	ENSP00000355324.2:p.Gln593Pro
ENST00000361828.7:c.1613A>C	ENSP00000354429.3:p.Gln538Pro
ENST00000361908.8:c.1724A>C	ENSP00000354681.3:p.Gln575Pro
ENST00000392436.7:c.1613A>C	ENSP00000376231.3:p.Gln538Pro
ENST00000392437.6:c.1667A>C	ENSP00000376232.2:p.Gln556Pro
ENST00000642289.1:c.1552A>C
ENST00000642445.1:c.1613A>C	ENSP00000495535.1:p.Gln538Pro
ENST00000642593.1:c.1613A>C	ENSP00000494273.1:p.Gln538Pro
ENST00000643329.1:c.1295A>C	ENSP00000493673.1:p.Gln432Pro
ENST00000643737.1:c.*1694A>C	ENSP00000494210.1:n.*1694A>C
ENST00000644595.1:c.1613A>C	ENSP00000494121.1:p.Gln538Pro
ENST00000644629.1:c.1200A>C
ENST00000644841.1:c.*97A>C	ENSP00000493988.1:n.*97A>C
ENST00000644959.1:c.1582A>C
ENST00000645553.1:c.1628A>C	ENSP00000494725.1:p.Gln543Pro
ENST00000646085.1:c.*1091A>C	ENSP00000494509.1:n.*1091A>C
ENST00000646277.1:c.*214A>C	ENSP00000495289.1:n.*214A>C
ENST00000646544.1:c.601A>C
ENST00000646699.1:c.1552A>C
ENST00000646793.1:c.1505A>C	ENSP00000494512.1:p.Gln502Pro
ENST00000361150.6:c.1616A>C	ENSP00000354781.2:p.Gln539Pro
ENST00000361510.6:c.1778A>C	ENSP00000355324.2:p.Gln593Pro
ENST00000361715.6:c.1670A>C	ENSP00000355311.2:p.Gln557Pro
ENST00000361828.6:c.1667A>C	ENSP00000354429.2:p.Gln556Pro
ENST00000361908.7:c.1724A>C	ENSP00000354681.3:p.Gln575Pro
ENST00000392438.7:c.1613A>C	ENSP00000376233.3:p.Gln538Pro
ENST00000483516.1:n.111A>C
NM_015560.2:c.1613A>C , LRG_337t1:c.1613A>C	NP_056375.2:p.Gln538Pro
NM_130831.2:c.1505A>C	NP_570844.1:p.Gln502Pro
NM_130832.2:c.1559A>C	NP_570845.1:p.Gln520Pro
NM_130833.2:c.1616A>C	NP_570846.1:p.Gln539Pro
NM_130834.2:c.1667A>C	NP_570847.2:p.Gln556Pro
NM_130835.2:c.1670A>C	NP_570848.1:p.Gln557Pro
NM_130836.2:c.1724A>C	NP_570849.2:p.Gln575Pro
NM_130837.2:c.1778A>C , LRG_337t2:c.1778A>C	NP_570850.2:p.Gln593Pro
XM_011512863.1:c.1778A>C	XP_011511165.1:p.Gln593Pro
XM_011512864.1:c.1724A>C	XP_011511166.1:p.Gln575Pro
XM_011512865.1:c.1667A>C	XP_011511167.1:p.Gln556Pro
XM_011512866.1:c.1616A>C	XP_011511168.1:p.Gln539Pro
XM_011512867.1:c.1613A>C	XP_011511169.1:p.Gln538Pro
XM_011512868.1:c.1505A>C	XP_011511170.1:p.Gln502Pro
XM_011512869.1:c.1778A>C	XP_011511171.1:p.Gln593Pro
NM_001354663.1:c.1244A>C	NP_001341592.1:p.Gln415Pro
NM_001354664.1:c.1241A>C	NP_001341593.1:p.Gln414Pro
XR_001740158.2:n.2007A>C
XR_001740159.2:n.1842A>C
NM_001354663.2:c.1244A>C	NP_001341592.1:p.Gln415Pro
NM_001354664.2:c.1241A>C	NP_001341593.1:p.Gln414Pro
NM_130831.3:c.1505A>C	NP_570844.1:p.Gln502Pro
NM_130832.3:c.1559A>C	NP_570845.1:p.Gln520Pro
NM_130834.3:c.1667A>C	NP_570847.2:p.Gln556Pro
NM_130836.3:c.1724A>C	NP_570849.2:p.Gln575Pro
NM_015560.3:c.1613A>C	NP_056375.2:p.Gln538Pro
NM_130833.3:c.1616A>C	NP_570846.1:p.Gln539Pro
NM_130835.3:c.1670A>C	NP_570848.1:p.Gln557Pro
NM_130837.3:c.1778A>C MANE Select	NP_570850.2:p.Gln593Pro