Canonical Allele Identifier: CA548823089

Gene: OPA1

Linked Data

• dbSNP Id: rs1338649224
• gnomAD v2: 3-193365829-A-C
• gnomAD v3: 3-193648040-A-C
• gnomAD v4: 3-193648040-A-C
• MyVariant Identifiers: chr3:g.193365829A>C (hg19) ; chr3:g.193648040A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.193648040A>C , CM000665.2:g.193648040A>C	GRCh38
NC_000003.11:g.193365829A>C , CM000665.1:g.193365829A>C	GRCh37
NC_000003.10:g.194848523A>C	NCBI36
NG_011605.1:g.59897A>C , LRG_337:g.59897A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000361510.8:c.1871-30A>C MANE Select	ENSP00000355324.2:n.1871-30A>C
ENST00000361828.7:c.1706-30A>C	ENSP00000354429.3:n.1706-30A>C
ENST00000361908.8:c.1817-30A>C	ENSP00000354681.3:n.1817-30A>C
ENST00000392436.7:c.1706-30A>C	ENSP00000376231.3:n.1706-30A>C
ENST00000392437.6:c.1760-30A>C	ENSP00000376232.2:n.1760-30A>C
ENST00000642289.1:c.1645-30A>C
ENST00000642445.1:c.1706-30A>C	ENSP00000495535.1:n.1706-30A>C
ENST00000642593.1:c.1706-755A>C	ENSP00000494273.1:n.1706-755A>C
ENST00000643329.1:c.1388-30A>C	ENSP00000493673.1:n.1388-30A>C
ENST00000643737.1:c.*1787-30A>C	ENSP00000494210.1:n.*1787-30A>C
ENST00000644595.1:c.1706-30A>C	ENSP00000494121.1:n.1706-30A>C
ENST00000644629.1:c.1293-30A>C
ENST00000644841.1:c.*190-30A>C	ENSP00000493988.1:n.*190-30A>C
ENST00000644959.1:c.1675-30A>C
ENST00000645553.1:c.1721-30A>C	ENSP00000494725.1:n.1721-30A>C
ENST00000646085.1:c.*1184-30A>C	ENSP00000494509.1:n.*1184-30A>C
ENST00000646277.1:c.*307-30A>C	ENSP00000495289.1:n.*307-30A>C
ENST00000646544.1:c.694-30A>C
ENST00000646699.1:c.1645-30A>C
ENST00000646793.1:c.1598-30A>C	ENSP00000494512.1:n.1598-30A>C
ENST00000361150.6:c.1709-30A>C	ENSP00000354781.2:n.1709-30A>C
ENST00000361510.6:c.1871-30A>C	ENSP00000355324.2:n.1871-30A>C
ENST00000361715.6:c.1763-30A>C	ENSP00000355311.2:n.1763-30A>C
ENST00000361828.6:c.1760-30A>C	ENSP00000354429.2:n.1760-30A>C
ENST00000361908.7:c.1817-30A>C	ENSP00000354681.3:n.1817-30A>C
ENST00000392438.7:c.1706-30A>C	ENSP00000376233.3:n.1706-30A>C
ENST00000483516.1:n.204-30A>C
NM_015560.2:c.1706-30A>C , LRG_337t1:c.1706-30A>C	NP_056375.2:n.1706-30A>C
NM_130831.2:c.1598-30A>C	NP_570844.1:n.1598-30A>C
NM_130832.2:c.1652-30A>C	NP_570845.1:n.1652-30A>C
NM_130833.2:c.1709-30A>C	NP_570846.1:n.1709-30A>C
NM_130834.2:c.1760-30A>C	NP_570847.2:n.1760-30A>C
NM_130835.2:c.1763-30A>C	NP_570848.1:n.1763-30A>C
NM_130836.2:c.1817-30A>C	NP_570849.2:n.1817-30A>C
NM_130837.2:c.1871-30A>C , LRG_337t2:c.1871-30A>C	NP_570850.2:n.1871-30A>C
XM_011512863.1:c.1871-30A>C	XP_011511165.1:n.1871-30A>C
XM_011512864.1:c.1817-30A>C	XP_011511166.1:n.1817-30A>C
XM_011512865.1:c.1760-30A>C	XP_011511167.1:n.1760-30A>C
XM_011512866.1:c.1709-30A>C	XP_011511168.1:n.1709-30A>C
XM_011512867.1:c.1706-30A>C	XP_011511169.1:n.1706-30A>C
XM_011512868.1:c.1598-30A>C	XP_011511170.1:n.1598-30A>C
XM_011512869.1:c.1871-30A>C	XP_011511171.1:n.1871-30A>C
XR_924835.1:n.583-730T>G
NM_001354663.1:c.1337-30A>C	NP_001341592.1:n.1337-30A>C
NM_001354664.1:c.1334-30A>C	NP_001341593.1:n.1334-30A>C
XR_001740158.2:n.2100-30A>C
XR_001740159.2:n.1935-30A>C
XR_001741074.1:n.476-730T>G
XR_924835.2:n.601-730T>G
NM_001354663.2:c.1337-30A>C	NP_001341592.1:n.1337-30A>C
NM_001354664.2:c.1334-30A>C	NP_001341593.1:n.1334-30A>C
NM_130831.3:c.1598-30A>C	NP_570844.1:n.1598-30A>C
NM_130832.3:c.1652-30A>C	NP_570845.1:n.1652-30A>C
NM_130834.3:c.1760-30A>C	NP_570847.2:n.1760-30A>C
NM_130836.3:c.1817-30A>C	NP_570849.2:n.1817-30A>C
NM_015560.3:c.1706-30A>C	NP_056375.2:n.1706-30A>C
NM_130833.3:c.1709-30A>C	NP_570846.1:n.1709-30A>C
NM_130835.3:c.1763-30A>C	NP_570848.1:n.1763-30A>C
NM_130837.3:c.1871-30A>C MANE Select	NP_570850.2:n.1871-30A>C