Canonical Allele Identifier: CA386001240

Gene: CEP290

Linked Data

• dbSNP Id: rs375065584
• gnomAD v3: 12-88089456-T-G
• gnomAD v4: 12-88089456-T-G
• MyVariant Identifiers: chr12:g.88483233T>G (hg19) ; chr12:g.88089456T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.88089456T>G , CM000674.2:g.88089456T>G	GRCh38
NC_000012.11:g.88483233T>G , CM000674.1:g.88483233T>G	GRCh37
NC_000012.10:g.87007364T>G	NCBI36
NG_008417.1:g.57761A>C
NG_008417.2:g.57761A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309041.12:c.3605A>C	ENSP00000308021.8:p.Lys1202Thr
ENST00000547691.8:c.889A>C
ENST00000552810.6:c.3605A>C MANE Select	ENSP00000448012.1:p.Lys1202Thr
ENST00000672414.2:c.*1776A>C	ENSP00000500729.1:n.*1776A>C
ENST00000672647.1:n.1965A>C
ENST00000673058.2:c.3605A>C	ENSP00000500665.2:p.Lys1202Thr
ENST00000674971.1:c.3605A>C	ENSP00000502194.1:p.Lys1202Thr
ENST00000675089.1:c.430A>C	ENSP00000501582.1:n.430A>C
ENST00000675230.1:c.3584A>C	ENSP00000502503.1:p.Lys1195Thr
ENST00000675408.1:c.3605A>C	ENSP00000502298.1:p.Lys1202Thr
ENST00000675476.1:c.4466A>C	ENSP00000502161.1:p.Lys1489Thr
ENST00000675628.1:n.3832A>C
ENST00000675794.1:c.*1776A>C	ENSP00000502841.1:n.*1776A>C
ENST00000675833.1:c.4373A>C	ENSP00000502559.1:p.Lys1458Thr
ENST00000676074.1:c.3605A>C	ENSP00000502079.1:p.Lys1202Thr
ENST00000676181.1:n.2533A>C
ENST00000676363.1:n.9331A>C
ENST00000676448.1:c.*1518A>C	ENSP00000501987.1:n.*1518A>C
ENST00000309041.11:c.3611A>C	ENSP00000308021.7:p.Lys1204Thr
ENST00000547691.6:c.785A>C	ENSP00000446905.1:p.Lys262Thr
ENST00000552810.5:c.3605A>C	ENSP00000448012.1:p.Lys1202Thr
NM_025114.3:c.3605A>C	NP_079390.3:p.Lys1202Thr
XM_011538756.1:c.4466A>C	XP_011537058.1:p.Lys1489Thr
XM_011538757.1:c.4466A>C	XP_011537059.1:p.Lys1489Thr
XM_011538758.1:c.4466A>C	XP_011537060.1:p.Lys1489Thr
XM_011538759.1:c.4466A>C	XP_011537061.1:p.Lys1489Thr
XM_011538760.1:c.4466A>C	XP_011537062.1:p.Lys1489Thr
XM_011538761.1:c.4466A>C	XP_011537063.1:p.Lys1489Thr
XM_011538762.1:c.3698A>C	XP_011537064.1:p.Lys1233Thr
XM_011538763.1:c.3605A>C	XP_011537065.1:p.Lys1202Thr
XM_011538764.1:c.4466A>C	XP_011537066.1:p.Lys1489Thr
XM_011538765.1:c.4466A>C	XP_011537067.1:p.Lys1489Thr
XM_011538766.1:c.2927A>C	XP_011537068.1:p.Lys976Thr
XM_011538756.3:c.4466A>C	XP_011537058.1:p.Lys1489Thr
XM_011538757.3:c.4466A>C	XP_011537059.1:p.Lys1489Thr
XM_011538758.3:c.4466A>C	XP_011537060.1:p.Lys1489Thr
XM_011538759.2:c.4466A>C	XP_011537061.1:p.Lys1489Thr
XM_011538760.2:c.4466A>C	XP_011537062.1:p.Lys1489Thr
XM_011538761.2:c.4466A>C	XP_011537063.1:p.Lys1489Thr
XM_011538762.3:c.3698A>C	XP_011537064.1:p.Lys1233Thr
XM_011538763.3:c.3605A>C	XP_011537065.1:p.Lys1202Thr
XM_011538764.3:c.4466A>C	XP_011537066.1:p.Lys1489Thr
XM_011538765.3:c.4466A>C	XP_011537067.1:p.Lys1489Thr
XM_011538766.3:c.2927A>C	XP_011537068.1:p.Lys976Thr
XM_017019980.2:c.4466A>C	XP_016875469.1:p.Lys1489Thr
XM_017019981.2:c.4466A>C	XP_016875470.1:p.Lys1489Thr
XM_017019982.1:c.4466A>C	XP_016875471.1:p.Lys1489Thr
XM_017019983.2:c.3584A>C	XP_016875472.1:p.Lys1195Thr
XR_001748869.1:n.4810A>C
XR_001748870.2:n.4810A>C
NM_025114.4:c.3605A>C MANE Select	NP_079390.3:p.Lys1202Thr