Canonical Allele Identifier: CA551247

Gene: CEP104

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.3823176C>T , CM000663.2:g.3823176C>T	GRCh38
NC_000001.10:g.3739740C>T , CM000663.1:g.3739740C>T	GRCh37
NC_000001.9:g.3729600C>T	NCBI36
NG_046726.1:g.39058G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378230.8:c.2569G>A MANE Select	ENSP00000367476.3:p.Glu857Lys
ENST00000428079.6:c.2569G>A	ENSP00000394989.2:p.Glu857Lys
ENST00000438539.6:n.1616G>A
ENST00000461667.2:c.2569G>A	ENSP00000463605.2:p.Glu857Lys
ENST00000674544.1:c.2395G>A	ENSP00000502641.1:p.Glu799Lys
ENST00000674558.1:c.2569G>A	ENSP00000501829.1:p.Glu857Lys
ENST00000674623.1:c.2569G>A	ENSP00000501733.1:p.Glu857Lys
ENST00000674879.1:n.3505G>A
ENST00000674985.1:c.*1427G>A	ENSP00000502482.1:n.*1427G>A
ENST00000675108.1:c.*2639+248G>A	ENSP00000502131.1:n.*2639+248G>A
ENST00000675200.1:c.*448G>A	ENSP00000502512.1:n.*448G>A
ENST00000675334.1:n.2373G>A
ENST00000675375.1:c.2395G>A	ENSP00000502180.1:p.Glu799Lys
ENST00000675666.1:c.2503+248G>A	ENSP00000502548.1:n.2503+248G>A
ENST00000675677.1:c.2371G>A	ENSP00000501944.1:p.Glu791Lys
ENST00000675750.1:c.*1898G>A	ENSP00000502342.1:n.*1898G>A
ENST00000675966.1:n.4241G>A
ENST00000676009.1:c.*318G>A	ENSP00000502246.1:n.*318G>A
ENST00000676052.1:c.2587G>A	ENSP00000502793.1:p.Glu863Lys
ENST00000378230.7:c.2569G>A	ENSP00000367476.3:p.Glu857Lys
ENST00000438539.5:c.459G>A
ENST00000461667.1:c.526G>A	ENSP00000463605.1:p.Glu176Lys
NM_014704.3:c.2569G>A	NP_055519.1:p.Glu857Lys
XM_005244815.3:c.2677G>A	XP_005244872.1:p.Glu893Lys
XM_011542473.1:c.2695G>A	XP_011540775.1:p.Glu899Lys
XM_011542474.1:c.2587G>A	XP_011540776.1:p.Glu863Lys
XM_011542475.1:c.2521G>A	XP_011540777.1:p.Glu841Lys
XM_011542476.1:c.2497G>A	XP_011540778.1:p.Glu833Lys
XM_011542477.1:c.2323G>A	XP_011540779.1:p.Glu775Lys
XM_005244815.4:c.2677G>A	XP_005244872.1:p.Glu893Lys
XM_011542474.3:c.2587G>A	XP_011540776.1:p.Glu863Lys
XM_017002918.2:c.2395G>A	XP_016858407.1:p.Glu799Lys
XM_017002919.2:c.2371G>A	XP_016858408.1:p.Glu791Lys
XM_024451101.1:c.2695G>A	XP_024306869.1:p.Glu899Lys
XM_024451102.1:c.2521G>A	XP_024306870.1:p.Glu841Lys
XM_024451103.1:c.2503G>A	XP_024306871.1:p.Glu835Lys
XM_024451104.1:c.2497G>A	XP_024306872.1:p.Glu833Lys
XM_024451106.1:c.2323G>A	XP_024306874.1:p.Glu775Lys
NM_014704.4:c.2569G>A MANE Select	NP_055519.1:p.Glu857Lys