Canonical Allele Identifier: CA385987398

Gene: CEP290

Linked Data

• gnomAD v4: 12-88077256-A-C
• MyVariant Identifiers: chr12:g.88471033A>C (hg19) ; chr12:g.88077256A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.88077256A>C , CM000674.2:g.88077256A>C	GRCh38
NC_000012.11:g.88471033A>C , CM000674.1:g.88471033A>C	GRCh37
NC_000012.10:g.86995164A>C	NCBI36
NG_008417.1:g.69961T>G
NG_008417.2:g.69961T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309041.12:c.5675T>G	ENSP00000308021.8:p.Val1892Gly
ENST00000547691.8:c.2959T>G
ENST00000552810.6:c.5675T>G MANE Select	ENSP00000448012.1:p.Val1892Gly
ENST00000672414.2:c.*3846T>G	ENSP00000500729.1:n.*3846T>G
ENST00000672647.1:n.4035T>G
ENST00000673058.2:c.5675T>G	ENSP00000500665.2:p.Val1892Gly
ENST00000674971.1:c.5675T>G	ENSP00000502194.1:p.Val1892Gly
ENST00000675230.1:c.5654T>G	ENSP00000502503.1:p.Val1885Gly
ENST00000675408.1:c.5675T>G	ENSP00000502298.1:p.Val1892Gly
ENST00000675476.1:c.6536T>G	ENSP00000502161.1:p.Val2179Gly
ENST00000675628.1:n.5902T>G
ENST00000675794.1:c.*3846T>G	ENSP00000502841.1:n.*3846T>G
ENST00000675833.1:c.6443T>G	ENSP00000502559.1:p.Val2148Gly
ENST00000675894.1:n.1980T>G
ENST00000676074.1:c.5675T>G	ENSP00000502079.1:p.Val1892Gly
ENST00000676181.1:n.4603T>G
ENST00000676363.1:n.11401T>G
ENST00000676448.1:c.*3588T>G	ENSP00000501987.1:n.*3588T>G
ENST00000309041.11:c.5681T>G	ENSP00000308021.7:p.Val1894Gly
ENST00000547691.6:c.2855T>G	ENSP00000446905.1:p.Val952Gly
ENST00000552810.5:c.5675T>G	ENSP00000448012.1:p.Val1892Gly
NM_025114.3:c.5675T>G	NP_079390.3:p.Val1892Gly
XM_011538756.1:c.6536T>G	XP_011537058.1:p.Val2179Gly
XM_011538757.1:c.6536T>G	XP_011537059.1:p.Val2179Gly
XM_011538758.1:c.6536T>G	XP_011537060.1:p.Val2179Gly
XM_011538759.1:c.6536T>G	XP_011537061.1:p.Val2179Gly
XM_011538760.1:c.6536T>G	XP_011537062.1:p.Val2179Gly
XM_011538761.1:c.6536T>G	XP_011537063.1:p.Val2179Gly
XM_011538762.1:c.5768T>G	XP_011537064.1:p.Val1923Gly
XM_011538763.1:c.5675T>G	XP_011537065.1:p.Val1892Gly
XM_011538764.1:c.6536T>G	XP_011537066.1:p.Val2179Gly
XM_011538765.1:c.6536T>G	XP_011537067.1:p.Val2179Gly
XM_011538766.1:c.4997T>G	XP_011537068.1:p.Val1666Gly
XR_945163.1:n.968-5057A>C
XM_011538756.3:c.6536T>G	XP_011537058.1:p.Val2179Gly
XM_011538757.3:c.6536T>G	XP_011537059.1:p.Val2179Gly
XM_011538758.3:c.6536T>G	XP_011537060.1:p.Val2179Gly
XM_011538759.2:c.6536T>G	XP_011537061.1:p.Val2179Gly
XM_011538760.2:c.6536T>G	XP_011537062.1:p.Val2179Gly
XM_011538761.2:c.6536T>G	XP_011537063.1:p.Val2179Gly
XM_011538762.3:c.5768T>G	XP_011537064.1:p.Val1923Gly
XM_011538763.3:c.5675T>G	XP_011537065.1:p.Val1892Gly
XM_011538764.3:c.6536T>G	XP_011537066.1:p.Val2179Gly
XM_011538765.3:c.6536T>G	XP_011537067.1:p.Val2179Gly
XM_011538766.3:c.4997T>G	XP_011537068.1:p.Val1666Gly
XM_017019980.2:c.6536T>G	XP_016875469.1:p.Val2179Gly
XM_017019981.2:c.6536T>G	XP_016875470.1:p.Val2179Gly
XM_017019982.1:c.6536T>G	XP_016875471.1:p.Val2179Gly
XM_017019983.2:c.5654T>G	XP_016875472.1:p.Val1885Gly
XR_001748869.1:n.6880T>G
XR_001748870.2:n.6880T>G
NM_025114.4:c.5675T>G MANE Select	NP_079390.3:p.Val1892Gly