Canonical Allele Identifier: CA481059257
Community Standard Title: NM_025114.4(CEP290):c.6774T>G (p.Leu2258=)
Gene: CEP290 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.88058892A>C , CM000674.2:g.88058892A>C GRCh38
NC_000012.11:g.88452669A>C , CM000674.1:g.88452669A>C GRCh37
NC_000012.10:g.86976800A>C NCBI36
NG_008417.1:g.88325T>G
NG_008417.2:g.88325T>G

Transcript Alleles

HGVS Amino-acid Change
NM_025114.4:c.6774T>G MANE Select NP_079390.3:p.Leu2258=
ENST00000552810.6:c.6774T>G MANE Select ENSP00000448012.1:p.Leu2258=
NM_025114.3:c.6774T>G NP_079390.3:p.Leu2258=
ENST00000309041.11:c.6780T>G ENSP00000308021.7:p.Leu2260=
ENST00000309041.12:c.6783T>G ENSP00000308021.8:p.Leu2261=
ENST00000547691.6:c.3954T>G ENSP00000446905.1:p.Leu1318=
ENST00000547691.8:c.3929+1006T>G
ENST00000552810.5:c.6774T>G ENSP00000448012.1:p.Leu2258=
ENST00000671777.2:n.553T>G
ENST00000672414.2:c.*4780T>G ENSP00000500729.1:n.*4780T>G
ENST00000672647.1:n.5134T>G
ENST00000673058.2:c.6651T>G ENSP00000500665.2:p.Leu2217=
ENST00000674712.1:n.301T>G
ENST00000674889.1:n.3727T>G
ENST00000674971.1:c.6774T>G ENSP00000502194.1:p.Leu2258=
ENST00000675230.1:c.6753T>G ENSP00000502503.1:p.Leu2251=
ENST00000675408.1:c.6609T>G ENSP00000502298.1:p.Leu2203=
ENST00000675476.1:c.7635T>G ENSP00000502161.1:p.Leu2545=
ENST00000675628.1:n.7001T>G
ENST00000675794.1:c.*4945T>G ENSP00000502841.1:n.*4945T>G
ENST00000675833.1:c.7542T>G ENSP00000502559.1:p.Leu2514=
ENST00000675894.1:n.3079T>G
ENST00000676074.1:c.6609T>G ENSP00000502079.1:p.Leu2203=
ENST00000676181.1:n.5702T>G
ENST00000676190.1:n.1213T>G
ENST00000676363.1:n.12500T>G
XM_011538756.1:c.7644T>G XP_011537058.1:p.Leu2548=
XM_011538756.3:c.7644T>G XP_011537058.1:p.Leu2548=
XM_011538757.1:c.7644T>G XP_011537059.1:p.Leu2548=
XM_011538757.3:c.7644T>G XP_011537059.1:p.Leu2548=
XM_011538758.1:c.7641T>G XP_011537060.1:p.Leu2547=
XM_011538758.3:c.7641T>G XP_011537060.1:p.Leu2547=
XM_011538759.1:c.7635T>G XP_011537061.1:p.Leu2545=
XM_011538759.2:c.7635T>G XP_011537061.1:p.Leu2545=
XM_011538760.1:c.7521T>G XP_011537062.1:p.Leu2507=
XM_011538760.2:c.7521T>G XP_011537062.1:p.Leu2507=
XM_011538761.1:c.7479T>G XP_011537063.1:p.Leu2493=
XM_011538761.2:c.7479T>G XP_011537063.1:p.Leu2493=
XM_011538762.1:c.6876T>G XP_011537064.1:p.Leu2292=
XM_011538762.3:c.6876T>G XP_011537064.1:p.Leu2292=
XM_011538763.1:c.6783T>G XP_011537065.1:p.Leu2261=
XM_011538763.3:c.6783T>G XP_011537065.1:p.Leu2261=
XM_011538766.1:c.6105T>G XP_011537068.1:p.Leu2035=
XM_011538766.3:c.6105T>G XP_011537068.1:p.Leu2035=
XM_017019980.2:c.7512T>G XP_016875469.1:p.Leu2504=
XM_017019981.2:c.7470T>G XP_016875470.1:p.Leu2490=
XM_017019982.1:c.7644T>G XP_016875471.1:p.Leu2548=
XM_017019983.2:c.6762T>G XP_016875472.1:p.Leu2254=
XR_001748869.1:n.7979T>G
XR_001748870.2:n.7814T>G
XR_945163.1:n.967+1872A>C