Canonical Allele Identifier: CA355790560

Gene: OPA1

Linked Data

• MyVariant Identifiers: chr3:g.193364950A>T (hg19) ; chr3:g.193647161A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193647161A>T , CM000665.2:g.193647161A>T	GRCh38
NC_000003.11:g.193364950A>T , CM000665.1:g.193364950A>T	GRCh37
NC_000003.10:g.194847644A>T	NCBI36
NG_011605.1:g.59018A>T , LRG_337:g.59018A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361510.8:c.1851A>T MANE Select	ENSP00000355324.2:p.Gln617His
ENST00000361828.7:c.1686A>T	ENSP00000354429.3:p.Gln562His
ENST00000361908.8:c.1797A>T	ENSP00000354681.3:p.Gln599His
ENST00000392436.7:c.1686A>T	ENSP00000376231.3:p.Gln562His
ENST00000392437.6:c.1740A>T	ENSP00000376232.2:p.Gln580His
ENST00000642289.1:c.1625A>T
ENST00000642445.1:c.1686A>T	ENSP00000495535.1:p.Gln562His
ENST00000642593.1:c.1686A>T	ENSP00000494273.1:p.Gln562His
ENST00000643329.1:c.1368A>T	ENSP00000493673.1:p.Gln456His
ENST00000643737.1:c.*1767A>T	ENSP00000494210.1:n.*1767A>T
ENST00000644595.1:c.1686A>T	ENSP00000494121.1:p.Gln562His
ENST00000644629.1:c.1273A>T
ENST00000644841.1:c.*170A>T	ENSP00000493988.1:n.*170A>T
ENST00000644959.1:c.1655A>T
ENST00000645553.1:c.1701A>T	ENSP00000494725.1:p.Gln567His
ENST00000646085.1:c.*1164A>T	ENSP00000494509.1:n.*1164A>T
ENST00000646277.1:c.*287A>T	ENSP00000495289.1:n.*287A>T
ENST00000646544.1:c.674A>T
ENST00000646699.1:c.1625A>T
ENST00000646793.1:c.1578A>T	ENSP00000494512.1:p.Gln526His
ENST00000361150.6:c.1689A>T	ENSP00000354781.2:p.Gln563His
ENST00000361510.6:c.1851A>T	ENSP00000355324.2:p.Gln617His
ENST00000361715.6:c.1743A>T	ENSP00000355311.2:p.Gln581His
ENST00000361828.6:c.1740A>T	ENSP00000354429.2:p.Gln580His
ENST00000361908.7:c.1797A>T	ENSP00000354681.3:p.Gln599His
ENST00000392438.7:c.1686A>T	ENSP00000376233.3:p.Gln562His
ENST00000483516.1:n.184A>T
NM_015560.2:c.1686A>T , LRG_337t1:c.1686A>T	NP_056375.2:p.Gln562His
NM_130831.2:c.1578A>T	NP_570844.1:p.Gln526His
NM_130832.2:c.1632A>T	NP_570845.1:p.Gln544His
NM_130833.2:c.1689A>T	NP_570846.1:p.Gln563His
NM_130834.2:c.1740A>T	NP_570847.2:p.Gln580His
NM_130835.2:c.1743A>T	NP_570848.1:p.Gln581His
NM_130836.2:c.1797A>T	NP_570849.2:p.Gln599His
NM_130837.2:c.1851A>T , LRG_337t2:c.1851A>T	NP_570850.2:p.Gln617His
XM_011512863.1:c.1851A>T	XP_011511165.1:p.Gln617His
XM_011512864.1:c.1797A>T	XP_011511166.1:p.Gln599His
XM_011512865.1:c.1740A>T	XP_011511167.1:p.Gln580His
XM_011512866.1:c.1689A>T	XP_011511168.1:p.Gln563His
XM_011512867.1:c.1686A>T	XP_011511169.1:p.Gln562His
XM_011512868.1:c.1578A>T	XP_011511170.1:p.Gln526His
XM_011512869.1:c.1851A>T	XP_011511171.1:p.Gln617His
NM_001354663.1:c.1317A>T	NP_001341592.1:p.Gln439His
NM_001354664.1:c.1314A>T	NP_001341593.1:p.Gln438His
XR_001740158.2:n.2080A>T
XR_001740159.2:n.1915A>T
NM_001354663.2:c.1317A>T	NP_001341592.1:p.Gln439His
NM_001354664.2:c.1314A>T	NP_001341593.1:p.Gln438His
NM_130831.3:c.1578A>T	NP_570844.1:p.Gln526His
NM_130832.3:c.1632A>T	NP_570845.1:p.Gln544His
NM_130834.3:c.1740A>T	NP_570847.2:p.Gln580His
NM_130836.3:c.1797A>T	NP_570849.2:p.Gln599His
NM_015560.3:c.1686A>T	NP_056375.2:p.Gln562His
NM_130833.3:c.1689A>T	NP_570846.1:p.Gln563His
NM_130835.3:c.1743A>T	NP_570848.1:p.Gln581His
NM_130837.3:c.1851A>T MANE Select	NP_570850.2:p.Gln617His