Canonical Allele Identifier: CA355790540

Gene: OPA1

Linked Data

• MyVariant Identifiers: chr3:g.193364942G>C (hg19) ; chr3:g.193647153G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193647153G>C , CM000665.2:g.193647153G>C	GRCh38
NC_000003.11:g.193364942G>C , CM000665.1:g.193364942G>C	GRCh37
NC_000003.10:g.194847636G>C	NCBI36
NG_011605.1:g.59010G>C , LRG_337:g.59010G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361510.8:c.1843G>C MANE Select	ENSP00000355324.2:p.Val615Leu
ENST00000361828.7:c.1678G>C	ENSP00000354429.3:p.Val560Leu
ENST00000361908.8:c.1789G>C	ENSP00000354681.3:p.Val597Leu
ENST00000392436.7:c.1678G>C	ENSP00000376231.3:p.Val560Leu
ENST00000392437.6:c.1732G>C	ENSP00000376232.2:p.Val578Leu
ENST00000642289.1:c.1617G>C
ENST00000642445.1:c.1678G>C	ENSP00000495535.1:p.Val560Leu
ENST00000642593.1:c.1678G>C	ENSP00000494273.1:p.Val560Leu
ENST00000643329.1:c.1360G>C	ENSP00000493673.1:p.Val454Leu
ENST00000643737.1:c.*1759G>C	ENSP00000494210.1:n.*1759G>C
ENST00000644595.1:c.1678G>C	ENSP00000494121.1:p.Val560Leu
ENST00000644629.1:c.1265G>C
ENST00000644841.1:c.*162G>C	ENSP00000493988.1:n.*162G>C
ENST00000644959.1:c.1647G>C
ENST00000645553.1:c.1693G>C	ENSP00000494725.1:p.Val565Leu
ENST00000646085.1:c.*1156G>C	ENSP00000494509.1:n.*1156G>C
ENST00000646277.1:c.*279G>C	ENSP00000495289.1:n.*279G>C
ENST00000646544.1:c.666G>C
ENST00000646699.1:c.1617G>C
ENST00000646793.1:c.1570G>C	ENSP00000494512.1:p.Val524Leu
ENST00000361150.6:c.1681G>C	ENSP00000354781.2:p.Val561Leu
ENST00000361510.6:c.1843G>C	ENSP00000355324.2:p.Val615Leu
ENST00000361715.6:c.1735G>C	ENSP00000355311.2:p.Val579Leu
ENST00000361828.6:c.1732G>C	ENSP00000354429.2:p.Val578Leu
ENST00000361908.7:c.1789G>C	ENSP00000354681.3:p.Val597Leu
ENST00000392438.7:c.1678G>C	ENSP00000376233.3:p.Val560Leu
ENST00000483516.1:n.176G>C
NM_015560.2:c.1678G>C , LRG_337t1:c.1678G>C	NP_056375.2:p.Val560Leu
NM_130831.2:c.1570G>C	NP_570844.1:p.Val524Leu
NM_130832.2:c.1624G>C	NP_570845.1:p.Val542Leu
NM_130833.2:c.1681G>C	NP_570846.1:p.Val561Leu
NM_130834.2:c.1732G>C	NP_570847.2:p.Val578Leu
NM_130835.2:c.1735G>C	NP_570848.1:p.Val579Leu
NM_130836.2:c.1789G>C	NP_570849.2:p.Val597Leu
NM_130837.2:c.1843G>C , LRG_337t2:c.1843G>C	NP_570850.2:p.Val615Leu
XM_011512863.1:c.1843G>C	XP_011511165.1:p.Val615Leu
XM_011512864.1:c.1789G>C	XP_011511166.1:p.Val597Leu
XM_011512865.1:c.1732G>C	XP_011511167.1:p.Val578Leu
XM_011512866.1:c.1681G>C	XP_011511168.1:p.Val561Leu
XM_011512867.1:c.1678G>C	XP_011511169.1:p.Val560Leu
XM_011512868.1:c.1570G>C	XP_011511170.1:p.Val524Leu
XM_011512869.1:c.1843G>C	XP_011511171.1:p.Val615Leu
NM_001354663.1:c.1309G>C	NP_001341592.1:p.Val437Leu
NM_001354664.1:c.1306G>C	NP_001341593.1:p.Val436Leu
XR_001740158.2:n.2072G>C
XR_001740159.2:n.1907G>C
NM_001354663.2:c.1309G>C	NP_001341592.1:p.Val437Leu
NM_001354664.2:c.1306G>C	NP_001341593.1:p.Val436Leu
NM_130831.3:c.1570G>C	NP_570844.1:p.Val524Leu
NM_130832.3:c.1624G>C	NP_570845.1:p.Val542Leu
NM_130834.3:c.1732G>C	NP_570847.2:p.Val578Leu
NM_130836.3:c.1789G>C	NP_570849.2:p.Val597Leu
NM_015560.3:c.1678G>C	NP_056375.2:p.Val560Leu
NM_130833.3:c.1681G>C	NP_570846.1:p.Val561Leu
NM_130835.3:c.1735G>C	NP_570848.1:p.Val579Leu
NM_130837.3:c.1843G>C MANE Select	NP_570850.2:p.Val615Leu