Canonical Allele Identifier: CA385979434

Gene: CEP290

Linked Data

• MyVariant Identifiers: chr12:g.88456555T>A (hg19) ; chr12:g.88062778T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.88062778T>A , CM000674.2:g.88062778T>A	GRCh38
NC_000012.11:g.88456555T>A , CM000674.1:g.88456555T>A	GRCh37
NC_000012.10:g.86980686T>A	NCBI36
NG_008417.1:g.84439A>T
NG_008417.2:g.84439A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309041.12:c.6280A>T	ENSP00000308021.8:p.Asn2094Tyr
ENST00000547691.8:c.3555A>T
ENST00000552810.6:c.6271A>T MANE Select	ENSP00000448012.1:p.Asn2091Tyr
ENST00000672414.2:c.*4442A>T	ENSP00000500729.1:n.*4442A>T
ENST00000672647.1:n.4631A>T
ENST00000673058.2:c.6271A>T	ENSP00000500665.2:p.Asn2091Tyr
ENST00000674889.1:n.3224A>T
ENST00000674971.1:c.6271A>T	ENSP00000502194.1:p.Asn2091Tyr
ENST00000675230.1:c.6250A>T	ENSP00000502503.1:p.Asn2084Tyr
ENST00000675408.1:c.6271A>T	ENSP00000502298.1:p.Asn2091Tyr
ENST00000675476.1:c.7132A>T	ENSP00000502161.1:p.Asn2378Tyr
ENST00000675628.1:n.6498A>T
ENST00000675794.1:c.*4442A>T	ENSP00000502841.1:n.*4442A>T
ENST00000675833.1:c.7039A>T	ENSP00000502559.1:p.Asn2347Tyr
ENST00000675894.1:n.2576A>T
ENST00000676074.1:c.6271A>T	ENSP00000502079.1:p.Asn2091Tyr
ENST00000676181.1:n.5199A>T
ENST00000676190.1:n.710A>T
ENST00000676363.1:n.11997A>T
ENST00000309041.11:c.6277A>T	ENSP00000308021.7:p.Asn2093Tyr
ENST00000547691.6:c.3451A>T	ENSP00000446905.1:p.Asn1151Tyr
ENST00000552810.5:c.6271A>T	ENSP00000448012.1:p.Asn2091Tyr
NM_025114.3:c.6271A>T	NP_079390.3:p.Asn2091Tyr
XM_011538756.1:c.7141A>T	XP_011537058.1:p.Asn2381Tyr
XM_011538757.1:c.7141A>T	XP_011537059.1:p.Asn2381Tyr
XM_011538758.1:c.7138A>T	XP_011537060.1:p.Asn2380Tyr
XM_011538759.1:c.7132A>T	XP_011537061.1:p.Asn2378Tyr
XM_011538760.1:c.7141A>T	XP_011537062.1:p.Asn2381Tyr
XM_011538761.1:c.7141A>T	XP_011537063.1:p.Asn2381Tyr
XM_011538762.1:c.6373A>T	XP_011537064.1:p.Asn2125Tyr
XM_011538763.1:c.6280A>T	XP_011537065.1:p.Asn2094Tyr
XM_011538766.1:c.5602A>T	XP_011537068.1:p.Asn1868Tyr
XR_945163.1:n.967+5758T>A
XM_011538756.3:c.7141A>T	XP_011537058.1:p.Asn2381Tyr
XM_011538757.3:c.7141A>T	XP_011537059.1:p.Asn2381Tyr
XM_011538758.3:c.7138A>T	XP_011537060.1:p.Asn2380Tyr
XM_011538759.2:c.7132A>T	XP_011537061.1:p.Asn2378Tyr
XM_011538760.2:c.7141A>T	XP_011537062.1:p.Asn2381Tyr
XM_011538761.2:c.7141A>T	XP_011537063.1:p.Asn2381Tyr
XM_011538762.3:c.6373A>T	XP_011537064.1:p.Asn2125Tyr
XM_011538763.3:c.6280A>T	XP_011537065.1:p.Asn2094Tyr
XM_011538766.3:c.5602A>T	XP_011537068.1:p.Asn1868Tyr
XM_017019980.2:c.7132A>T	XP_016875469.1:p.Asn2378Tyr
XM_017019981.2:c.7132A>T	XP_016875470.1:p.Asn2378Tyr
XM_017019982.1:c.7141A>T	XP_016875471.1:p.Asn2381Tyr
XM_017019983.2:c.6259A>T	XP_016875472.1:p.Asn2087Tyr
XR_001748869.1:n.7476A>T
XR_001748870.2:n.7476A>T
NM_025114.4:c.6271A>T MANE Select	NP_079390.3:p.Asn2091Tyr