Canonical Allele Identifier: CA355790554

Gene: OPA1

Linked Data

• MyVariant Identifiers: chr3:g.193364948C>G (hg19) ; chr3:g.193647159C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193647159C>G , CM000665.2:g.193647159C>G	GRCh38
NC_000003.11:g.193364948C>G , CM000665.1:g.193364948C>G	GRCh37
NC_000003.10:g.194847642C>G	NCBI36
NG_011605.1:g.59016C>G , LRG_337:g.59016C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361510.8:c.1849C>G MANE Select	ENSP00000355324.2:p.Gln617Glu
ENST00000361828.7:c.1684C>G	ENSP00000354429.3:p.Gln562Glu
ENST00000361908.8:c.1795C>G	ENSP00000354681.3:p.Gln599Glu
ENST00000392436.7:c.1684C>G	ENSP00000376231.3:p.Gln562Glu
ENST00000392437.6:c.1738C>G	ENSP00000376232.2:p.Gln580Glu
ENST00000642289.1:c.1623C>G
ENST00000642445.1:c.1684C>G	ENSP00000495535.1:p.Gln562Glu
ENST00000642593.1:c.1684C>G	ENSP00000494273.1:p.Gln562Glu
ENST00000643329.1:c.1366C>G	ENSP00000493673.1:p.Gln456Glu
ENST00000643737.1:c.*1765C>G	ENSP00000494210.1:n.*1765C>G
ENST00000644595.1:c.1684C>G	ENSP00000494121.1:p.Gln562Glu
ENST00000644629.1:c.1271C>G
ENST00000644841.1:c.*168C>G	ENSP00000493988.1:n.*168C>G
ENST00000644959.1:c.1653C>G
ENST00000645553.1:c.1699C>G	ENSP00000494725.1:p.Gln567Glu
ENST00000646085.1:c.*1162C>G	ENSP00000494509.1:n.*1162C>G
ENST00000646277.1:c.*285C>G	ENSP00000495289.1:n.*285C>G
ENST00000646544.1:c.672C>G
ENST00000646699.1:c.1623C>G
ENST00000646793.1:c.1576C>G	ENSP00000494512.1:p.Gln526Glu
ENST00000361150.6:c.1687C>G	ENSP00000354781.2:p.Gln563Glu
ENST00000361510.6:c.1849C>G	ENSP00000355324.2:p.Gln617Glu
ENST00000361715.6:c.1741C>G	ENSP00000355311.2:p.Gln581Glu
ENST00000361828.6:c.1738C>G	ENSP00000354429.2:p.Gln580Glu
ENST00000361908.7:c.1795C>G	ENSP00000354681.3:p.Gln599Glu
ENST00000392438.7:c.1684C>G	ENSP00000376233.3:p.Gln562Glu
ENST00000483516.1:n.182C>G
NM_015560.2:c.1684C>G , LRG_337t1:c.1684C>G	NP_056375.2:p.Gln562Glu
NM_130831.2:c.1576C>G	NP_570844.1:p.Gln526Glu
NM_130832.2:c.1630C>G	NP_570845.1:p.Gln544Glu
NM_130833.2:c.1687C>G	NP_570846.1:p.Gln563Glu
NM_130834.2:c.1738C>G	NP_570847.2:p.Gln580Glu
NM_130835.2:c.1741C>G	NP_570848.1:p.Gln581Glu
NM_130836.2:c.1795C>G	NP_570849.2:p.Gln599Glu
NM_130837.2:c.1849C>G , LRG_337t2:c.1849C>G	NP_570850.2:p.Gln617Glu
XM_011512863.1:c.1849C>G	XP_011511165.1:p.Gln617Glu
XM_011512864.1:c.1795C>G	XP_011511166.1:p.Gln599Glu
XM_011512865.1:c.1738C>G	XP_011511167.1:p.Gln580Glu
XM_011512866.1:c.1687C>G	XP_011511168.1:p.Gln563Glu
XM_011512867.1:c.1684C>G	XP_011511169.1:p.Gln562Glu
XM_011512868.1:c.1576C>G	XP_011511170.1:p.Gln526Glu
XM_011512869.1:c.1849C>G	XP_011511171.1:p.Gln617Glu
NM_001354663.1:c.1315C>G	NP_001341592.1:p.Gln439Glu
NM_001354664.1:c.1312C>G	NP_001341593.1:p.Gln438Glu
XR_001740158.2:n.2078C>G
XR_001740159.2:n.1913C>G
NM_001354663.2:c.1315C>G	NP_001341592.1:p.Gln439Glu
NM_001354664.2:c.1312C>G	NP_001341593.1:p.Gln438Glu
NM_130831.3:c.1576C>G	NP_570844.1:p.Gln526Glu
NM_130832.3:c.1630C>G	NP_570845.1:p.Gln544Glu
NM_130834.3:c.1738C>G	NP_570847.2:p.Gln580Glu
NM_130836.3:c.1795C>G	NP_570849.2:p.Gln599Glu
NM_015560.3:c.1684C>G	NP_056375.2:p.Gln562Glu
NM_130833.3:c.1687C>G	NP_570846.1:p.Gln563Glu
NM_130835.3:c.1741C>G	NP_570848.1:p.Gln581Glu
NM_130837.3:c.1849C>G MANE Select	NP_570850.2:p.Gln617Glu