Canonical Allele Identifier: CA355788389

Gene: OPA1

Linked Data

• MyVariant Identifiers: chr3:g.193355792A>C (hg19) ; chr3:g.193638003A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193638003A>C , CM000665.2:g.193638003A>C	GRCh38
NC_000003.11:g.193355792A>C , CM000665.1:g.193355792A>C	GRCh37
NC_000003.10:g.194838486A>C	NCBI36
NG_011605.1:g.49860A>C , LRG_337:g.49860A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361510.8:c.1087A>C MANE Select	ENSP00000355324.2:p.Ile363Leu
ENST00000361828.7:c.922A>C	ENSP00000354429.3:p.Ile308Leu
ENST00000361908.8:c.1033A>C	ENSP00000354681.3:p.Ile345Leu
ENST00000392436.7:c.922A>C	ENSP00000376231.3:p.Ile308Leu
ENST00000392437.6:c.976A>C	ENSP00000376232.2:p.Ile326Leu
ENST00000642289.1:c.1017A>C
ENST00000642445.1:c.922A>C	ENSP00000495535.1:p.Ile308Leu
ENST00000642593.1:c.922A>C	ENSP00000494273.1:p.Ile308Leu
ENST00000643329.1:c.604A>C	ENSP00000493673.1:p.Ile202Leu
ENST00000643737.1:c.*1003A>C	ENSP00000494210.1:n.*1003A>C
ENST00000644595.1:c.922A>C	ENSP00000494121.1:p.Ile308Leu
ENST00000644629.1:c.582A>C
ENST00000644841.1:c.550A>C	ENSP00000493988.1:p.Ile184Leu
ENST00000644959.1:c.891A>C
ENST00000645553.1:c.937A>C	ENSP00000494725.1:p.Ile313Leu
ENST00000646085.1:c.*400A>C	ENSP00000494509.1:n.*400A>C
ENST00000646277.1:c.1087A>C	ENSP00000495289.1:p.Ile363Leu
ENST00000646699.1:c.1017A>C
ENST00000646793.1:c.814A>C	ENSP00000494512.1:p.Ile272Leu
ENST00000361150.6:c.925A>C	ENSP00000354781.2:p.Ile309Leu
ENST00000361510.6:c.1087A>C	ENSP00000355324.2:p.Ile363Leu
ENST00000361715.6:c.979A>C	ENSP00000355311.2:p.Ile327Leu
ENST00000361828.6:c.976A>C	ENSP00000354429.2:p.Ile326Leu
ENST00000361908.7:c.1033A>C	ENSP00000354681.3:p.Ile345Leu
ENST00000392438.7:c.922A>C	ENSP00000376233.3:p.Ile308Leu
ENST00000475899.1:n.118A>C
ENST00000495476.1:n.443A>C
ENST00000497189.5:n.408A>C
NM_015560.2:c.922A>C , LRG_337t1:c.922A>C	NP_056375.2:p.Ile308Leu
NM_130831.2:c.814A>C	NP_570844.1:p.Ile272Leu
NM_130832.2:c.868A>C	NP_570845.1:p.Ile290Leu
NM_130833.2:c.925A>C	NP_570846.1:p.Ile309Leu
NM_130834.2:c.976A>C	NP_570847.2:p.Ile326Leu
NM_130835.2:c.979A>C	NP_570848.1:p.Ile327Leu
NM_130836.2:c.1033A>C	NP_570849.2:p.Ile345Leu
NM_130837.2:c.1087A>C , LRG_337t2:c.1087A>C	NP_570850.2:p.Ile363Leu
XM_011512863.1:c.1087A>C	XP_011511165.1:p.Ile363Leu
XM_011512864.1:c.1033A>C	XP_011511166.1:p.Ile345Leu
XM_011512865.1:c.976A>C	XP_011511167.1:p.Ile326Leu
XM_011512866.1:c.925A>C	XP_011511168.1:p.Ile309Leu
XM_011512867.1:c.922A>C	XP_011511169.1:p.Ile308Leu
XM_011512868.1:c.814A>C	XP_011511170.1:p.Ile272Leu
XM_011512869.1:c.1087A>C	XP_011511171.1:p.Ile363Leu
NM_001354663.1:c.553A>C	NP_001341592.1:p.Ile185Leu
NM_001354664.1:c.550A>C	NP_001341593.1:p.Ile184Leu
XR_001740158.2:n.1316A>C
XR_001740159.2:n.1151A>C
NM_001354663.2:c.553A>C	NP_001341592.1:p.Ile185Leu
NM_001354664.2:c.550A>C	NP_001341593.1:p.Ile184Leu
NM_130831.3:c.814A>C	NP_570844.1:p.Ile272Leu
NM_130832.3:c.868A>C	NP_570845.1:p.Ile290Leu
NM_130834.3:c.976A>C	NP_570847.2:p.Ile326Leu
NM_130836.3:c.1033A>C	NP_570849.2:p.Ile345Leu
NM_015560.3:c.922A>C	NP_056375.2:p.Ile308Leu
NM_130833.3:c.925A>C	NP_570846.1:p.Ile309Leu
NM_130835.3:c.979A>C	NP_570848.1:p.Ile327Leu
NM_130837.3:c.1087A>C MANE Select	NP_570850.2:p.Ile363Leu