Canonical Allele Identifier: CA355797374

Gene: OPA1

Linked Data

• MyVariant Identifiers: chr3:g.193385000T>C (hg19) ; chr3:g.193667211T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193667211T>C , CM000665.2:g.193667211T>C	GRCh38
NC_000003.11:g.193385000T>C , CM000665.1:g.193385000T>C	GRCh37
NC_000003.10:g.194867694T>C	NCBI36
NG_011605.1:g.79068T>C , LRG_337:g.79068T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361510.8:c.2914T>C MANE Select	ENSP00000355324.2:p.Phe972Leu
ENST00000361828.7:c.2749T>C	ENSP00000354429.3:p.Phe917Leu
ENST00000361908.8:c.2860T>C	ENSP00000354681.3:p.Phe954Leu
ENST00000392436.7:c.2749T>C	ENSP00000376231.3:p.Phe917Leu
ENST00000392437.6:c.2803T>C	ENSP00000376232.2:p.Phe935Leu
ENST00000642289.1:c.2688T>C
ENST00000642445.1:c.2749T>C	ENSP00000495535.1:p.Phe917Leu
ENST00000642593.1:c.*974T>C	ENSP00000494273.1:n.*974T>C
ENST00000643329.1:c.2431T>C	ENSP00000493673.1:p.Phe811Leu
ENST00000643737.1:c.*2830T>C	ENSP00000494210.1:n.*2830T>C
ENST00000644595.1:c.2749T>C	ENSP00000494121.1:p.Phe917Leu
ENST00000644629.1:c.2336T>C
ENST00000644841.1:c.*1233T>C	ENSP00000493988.1:n.*1233T>C
ENST00000644959.1:c.2743T>C
ENST00000645553.1:c.2764T>C	ENSP00000494725.1:p.Phe922Leu
ENST00000646085.1:c.*2227T>C	ENSP00000494509.1:n.*2227T>C
ENST00000646277.1:c.*1350T>C	ENSP00000495289.1:n.*1350T>C
ENST00000646544.1:c.1737T>C
ENST00000646699.1:c.2688T>C
ENST00000646793.1:c.2641T>C	ENSP00000494512.1:p.Phe881Leu
ENST00000361150.6:c.2752T>C	ENSP00000354781.2:p.Phe918Leu
ENST00000361510.6:c.2914T>C	ENSP00000355324.2:p.Phe972Leu
ENST00000361715.6:c.2806T>C	ENSP00000355311.2:p.Phe936Leu
ENST00000361828.6:c.2803T>C	ENSP00000354429.2:p.Phe935Leu
ENST00000361908.7:c.2860T>C	ENSP00000354681.3:p.Phe954Leu
ENST00000392438.7:c.2749T>C	ENSP00000376233.3:p.Phe917Leu
ENST00000429164.1:c.36T>C
ENST00000445863.1:c.325T>C	ENSP00000398358.1:p.Phe109Leu
NM_015560.2:c.2749T>C , LRG_337t1:c.2749T>C	NP_056375.2:p.Phe917Leu
NM_130831.2:c.2641T>C	NP_570844.1:p.Phe881Leu
NM_130832.2:c.2695T>C	NP_570845.1:p.Phe899Leu
NM_130833.2:c.2752T>C	NP_570846.1:p.Phe918Leu
NM_130834.2:c.2803T>C	NP_570847.2:p.Phe935Leu
NM_130835.2:c.2806T>C	NP_570848.1:p.Phe936Leu
NM_130836.2:c.2860T>C	NP_570849.2:p.Phe954Leu
NM_130837.2:c.2914T>C , LRG_337t2:c.2914T>C	NP_570850.2:p.Phe972Leu
XM_011512863.1:c.2914T>C	XP_011511165.1:p.Phe972Leu
XM_011512864.1:c.2860T>C	XP_011511166.1:p.Phe954Leu
XM_011512865.1:c.2803T>C	XP_011511167.1:p.Phe935Leu
XM_011512866.1:c.2752T>C	XP_011511168.1:p.Phe918Leu
XM_011512867.1:c.2749T>C	XP_011511169.1:p.Phe917Leu
XM_011512868.1:c.2641T>C	XP_011511170.1:p.Phe881Leu
XR_924835.1:n.582+1709A>G
NM_001354663.1:c.2380T>C	NP_001341592.1:p.Phe794Leu
NM_001354664.1:c.2377T>C	NP_001341593.1:p.Phe793Leu
XR_001740158.2:n.3168T>C
XR_001740159.2:n.3003T>C
XR_001741072.1:n.600+1709A>G
XR_001741074.1:n.475+3597A>G
XR_924835.2:n.600+1709A>G
NM_001354663.2:c.2380T>C	NP_001341592.1:p.Phe794Leu
NM_001354664.2:c.2377T>C	NP_001341593.1:p.Phe793Leu
NM_130831.3:c.2641T>C	NP_570844.1:p.Phe881Leu
NM_130832.3:c.2695T>C	NP_570845.1:p.Phe899Leu
NM_130834.3:c.2803T>C	NP_570847.2:p.Phe935Leu
NM_130836.3:c.2860T>C	NP_570849.2:p.Phe954Leu
NM_015560.3:c.2749T>C	NP_056375.2:p.Phe917Leu
NM_130833.3:c.2752T>C	NP_570846.1:p.Phe918Leu
NM_130835.3:c.2806T>C	NP_570848.1:p.Phe936Leu
NM_130837.3:c.2914T>C MANE Select	NP_570850.2:p.Phe972Leu