Canonical Allele Identifier: CA481304110

Gene: CEP290

Linked Data

• dbSNP Id: rs2036819340
• MyVariant Identifiers: chr12:g.88482941C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.88089164C>T , CM000674.2:g.88089164C>T	GRCh38
NC_000012.11:g.88482941C>T , CM000674.1:g.88482941C>T	GRCh37
NC_000012.10:g.87007072C>T	NCBI36
NG_008417.1:g.58053G>A
NG_008417.2:g.58053G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309041.12:c.3897G>A	ENSP00000308021.8:p.Lys1299=
ENST00000547691.8:c.1181G>A
ENST00000552810.6:c.3897G>A MANE Select	ENSP00000448012.1:p.Lys1299=
ENST00000672414.2:c.*2068G>A	ENSP00000500729.1:n.*2068G>A
ENST00000672647.1:n.2257G>A
ENST00000673058.2:c.3897G>A	ENSP00000500665.2:p.Lys1299=
ENST00000674971.1:c.3897G>A	ENSP00000502194.1:p.Lys1299=
ENST00000675230.1:c.3876G>A	ENSP00000502503.1:p.Lys1292=
ENST00000675408.1:c.3897G>A	ENSP00000502298.1:p.Lys1299=
ENST00000675476.1:c.4758G>A	ENSP00000502161.1:p.Lys1586=
ENST00000675628.1:n.4124G>A
ENST00000675794.1:c.*2068G>A	ENSP00000502841.1:n.*2068G>A
ENST00000675833.1:c.4665G>A	ENSP00000502559.1:p.Lys1555=
ENST00000676074.1:c.3897G>A	ENSP00000502079.1:p.Lys1299=
ENST00000676181.1:n.2825G>A
ENST00000676363.1:n.9623G>A
ENST00000676448.1:c.*1810G>A	ENSP00000501987.1:n.*1810G>A
ENST00000309041.11:c.3903G>A	ENSP00000308021.7:p.Lys1301=
ENST00000547691.6:c.1077G>A	ENSP00000446905.1:p.Lys359=
ENST00000552810.5:c.3897G>A	ENSP00000448012.1:p.Lys1299=
NM_025114.3:c.3897G>A	NP_079390.3:p.Lys1299=
XM_011538756.1:c.4758G>A	XP_011537058.1:p.Lys1586=
XM_011538757.1:c.4758G>A	XP_011537059.1:p.Lys1586=
XM_011538758.1:c.4758G>A	XP_011537060.1:p.Lys1586=
XM_011538759.1:c.4758G>A	XP_011537061.1:p.Lys1586=
XM_011538760.1:c.4758G>A	XP_011537062.1:p.Lys1586=
XM_011538761.1:c.4758G>A	XP_011537063.1:p.Lys1586=
XM_011538762.1:c.3990G>A	XP_011537064.1:p.Lys1330=
XM_011538763.1:c.3897G>A	XP_011537065.1:p.Lys1299=
XM_011538764.1:c.4758G>A	XP_011537066.1:p.Lys1586=
XM_011538765.1:c.4758G>A	XP_011537067.1:p.Lys1586=
XM_011538766.1:c.3219G>A	XP_011537068.1:p.Lys1073=
XM_011538756.3:c.4758G>A	XP_011537058.1:p.Lys1586=
XM_011538757.3:c.4758G>A	XP_011537059.1:p.Lys1586=
XM_011538758.3:c.4758G>A	XP_011537060.1:p.Lys1586=
XM_011538759.2:c.4758G>A	XP_011537061.1:p.Lys1586=
XM_011538760.2:c.4758G>A	XP_011537062.1:p.Lys1586=
XM_011538761.2:c.4758G>A	XP_011537063.1:p.Lys1586=
XM_011538762.3:c.3990G>A	XP_011537064.1:p.Lys1330=
XM_011538763.3:c.3897G>A	XP_011537065.1:p.Lys1299=
XM_011538764.3:c.4758G>A	XP_011537066.1:p.Lys1586=
XM_011538765.3:c.4758G>A	XP_011537067.1:p.Lys1586=
XM_011538766.3:c.3219G>A	XP_011537068.1:p.Lys1073=
XM_017019980.2:c.4758G>A	XP_016875469.1:p.Lys1586=
XM_017019981.2:c.4758G>A	XP_016875470.1:p.Lys1586=
XM_017019982.1:c.4758G>A	XP_016875471.1:p.Lys1586=
XM_017019983.2:c.3876G>A	XP_016875472.1:p.Lys1292=
XR_001748869.1:n.5102G>A
XR_001748870.2:n.5102G>A
NM_025114.4:c.3897G>A MANE Select	NP_079390.3:p.Lys1299=