Canonical Allele Identifier: CA338030832

Gene: CEP104

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.3816340C>T , CM000663.2:g.3816340C>T	GRCh38
NC_000001.10:g.3732904C>T , CM000663.1:g.3732904C>T	GRCh37
NC_000001.9:g.3722764C>T	NCBI36
NG_046726.1:g.45894G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_014704.4:c.2602G>A MANE Select	NP_055519.1:p.Gly868Ser
ENST00000378230.8:c.2602G>A MANE Select	ENSP00000367476.3:p.Gly868Ser
NM_014704.3:c.2602G>A	NP_055519.1:p.Gly868Ser
ENST00000378230.7:c.2602G>A	ENSP00000367476.3:p.Gly868Ser
ENST00000428079.6:c.2602G>A	ENSP00000394989.2:p.Gly868Ser
ENST00000438539.5:c.492G>A
ENST00000438539.6:n.1649G>A
ENST00000484420.1:n.119G>A
ENST00000674544.1:c.2428G>A	ENSP00000502641.1:p.Gly810Ser
ENST00000674558.1:c.2602G>A	ENSP00000501829.1:p.Gly868Ser
ENST00000674623.1:c.2602G>A	ENSP00000501733.1:p.Gly868Ser
ENST00000674879.1:n.3538G>A
ENST00000674985.1:c.*1460G>A	ENSP00000502482.1:n.*1460G>A
ENST00000675108.1:c.*2670G>A	ENSP00000502131.1:n.*2670G>A
ENST00000675200.1:c.*481G>A	ENSP00000502512.1:n.*481G>A
ENST00000675334.1:n.2406G>A
ENST00000675375.1:c.2428G>A	ENSP00000502180.1:p.Gly810Ser
ENST00000675666.1:c.2534G>A	ENSP00000502548.1:p.Arg845Gln
ENST00000675677.1:c.2404G>A	ENSP00000501944.1:p.Gly802Ser
ENST00000675750.1:c.*1931G>A	ENSP00000502342.1:n.*1931G>A
ENST00000675966.1:n.4274G>A
ENST00000676009.1:c.*351G>A	ENSP00000502246.1:n.*351G>A
ENST00000676052.1:c.2620G>A	ENSP00000502793.1:p.Gly874Ser
XM_005244815.3:c.2710G>A	XP_005244872.1:p.Gly904Ser
XM_005244815.4:c.2710G>A	XP_005244872.1:p.Gly904Ser
XM_011542473.1:c.2728G>A	XP_011540775.1:p.Gly910Ser
XM_011542474.1:c.2620G>A	XP_011540776.1:p.Gly874Ser
XM_011542474.3:c.2620G>A	XP_011540776.1:p.Gly874Ser
XM_011542475.1:c.2554G>A	XP_011540777.1:p.Gly852Ser
XM_011542476.1:c.2530G>A	XP_011540778.1:p.Gly844Ser
XM_011542477.1:c.2356G>A	XP_011540779.1:p.Gly786Ser
XM_017002918.2:c.2428G>A	XP_016858407.1:p.Gly810Ser
XM_017002919.2:c.2404G>A	XP_016858408.1:p.Gly802Ser
XM_024451101.1:c.2728G>A	XP_024306869.1:p.Gly910Ser
XM_024451102.1:c.2554G>A	XP_024306870.1:p.Gly852Ser
XM_024451103.1:c.2536G>A	XP_024306871.1:p.Gly846Ser
XM_024451104.1:c.2530G>A	XP_024306872.1:p.Gly844Ser
XM_024451106.1:c.2356G>A	XP_024306874.1:p.Gly786Ser