Canonical Allele Identifier: CA386001250

Gene: CEP290

Linked Data

• MyVariant Identifiers: chr12:g.88483236G>C (hg19) ; chr12:g.88089459G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.88089459G>C , CM000674.2:g.88089459G>C	GRCh38
NC_000012.11:g.88483236G>C , CM000674.1:g.88483236G>C	GRCh37
NC_000012.10:g.87007367G>C	NCBI36
NG_008417.1:g.57758C>G
NG_008417.2:g.57758C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309041.12:c.3602C>G	ENSP00000308021.8:p.Ala1201Gly
ENST00000547691.8:c.886C>G
ENST00000552810.6:c.3602C>G MANE Select	ENSP00000448012.1:p.Ala1201Gly
ENST00000672414.2:c.*1773C>G	ENSP00000500729.1:n.*1773C>G
ENST00000672647.1:n.1962C>G
ENST00000673058.2:c.3602C>G	ENSP00000500665.2:p.Ala1201Gly
ENST00000674971.1:c.3602C>G	ENSP00000502194.1:p.Ala1201Gly
ENST00000675089.1:c.427C>G	ENSP00000501582.1:n.427C>G
ENST00000675230.1:c.3581C>G	ENSP00000502503.1:p.Ala1194Gly
ENST00000675408.1:c.3602C>G	ENSP00000502298.1:p.Ala1201Gly
ENST00000675476.1:c.4463C>G	ENSP00000502161.1:p.Ala1488Gly
ENST00000675628.1:n.3829C>G
ENST00000675794.1:c.*1773C>G	ENSP00000502841.1:n.*1773C>G
ENST00000675833.1:c.4370C>G	ENSP00000502559.1:p.Ala1457Gly
ENST00000676074.1:c.3602C>G	ENSP00000502079.1:p.Ala1201Gly
ENST00000676181.1:n.2530C>G
ENST00000676363.1:n.9328C>G
ENST00000676448.1:c.*1515C>G	ENSP00000501987.1:n.*1515C>G
ENST00000309041.11:c.3608C>G	ENSP00000308021.7:p.Ala1203Gly
ENST00000547691.6:c.782C>G	ENSP00000446905.1:p.Ala261Gly
ENST00000552810.5:c.3602C>G	ENSP00000448012.1:p.Ala1201Gly
NM_025114.3:c.3602C>G	NP_079390.3:p.Ala1201Gly
XM_011538756.1:c.4463C>G	XP_011537058.1:p.Ala1488Gly
XM_011538757.1:c.4463C>G	XP_011537059.1:p.Ala1488Gly
XM_011538758.1:c.4463C>G	XP_011537060.1:p.Ala1488Gly
XM_011538759.1:c.4463C>G	XP_011537061.1:p.Ala1488Gly
XM_011538760.1:c.4463C>G	XP_011537062.1:p.Ala1488Gly
XM_011538761.1:c.4463C>G	XP_011537063.1:p.Ala1488Gly
XM_011538762.1:c.3695C>G	XP_011537064.1:p.Ala1232Gly
XM_011538763.1:c.3602C>G	XP_011537065.1:p.Ala1201Gly
XM_011538764.1:c.4463C>G	XP_011537066.1:p.Ala1488Gly
XM_011538765.1:c.4463C>G	XP_011537067.1:p.Ala1488Gly
XM_011538766.1:c.2924C>G	XP_011537068.1:p.Ala975Gly
XM_011538756.3:c.4463C>G	XP_011537058.1:p.Ala1488Gly
XM_011538757.3:c.4463C>G	XP_011537059.1:p.Ala1488Gly
XM_011538758.3:c.4463C>G	XP_011537060.1:p.Ala1488Gly
XM_011538759.2:c.4463C>G	XP_011537061.1:p.Ala1488Gly
XM_011538760.2:c.4463C>G	XP_011537062.1:p.Ala1488Gly
XM_011538761.2:c.4463C>G	XP_011537063.1:p.Ala1488Gly
XM_011538762.3:c.3695C>G	XP_011537064.1:p.Ala1232Gly
XM_011538763.3:c.3602C>G	XP_011537065.1:p.Ala1201Gly
XM_011538764.3:c.4463C>G	XP_011537066.1:p.Ala1488Gly
XM_011538765.3:c.4463C>G	XP_011537067.1:p.Ala1488Gly
XM_011538766.3:c.2924C>G	XP_011537068.1:p.Ala975Gly
XM_017019980.2:c.4463C>G	XP_016875469.1:p.Ala1488Gly
XM_017019981.2:c.4463C>G	XP_016875470.1:p.Ala1488Gly
XM_017019982.1:c.4463C>G	XP_016875471.1:p.Ala1488Gly
XM_017019983.2:c.3581C>G	XP_016875472.1:p.Ala1194Gly
XR_001748869.1:n.4807C>G
XR_001748870.2:n.4807C>G
NM_025114.4:c.3602C>G MANE Select	NP_079390.3:p.Ala1201Gly