Canonical Allele Identifier: CA551248

Gene: CEP104

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.3823181C>T , CM000663.2:g.3823181C>T	GRCh38
NC_000001.10:g.3739745C>T , CM000663.1:g.3739745C>T	GRCh37
NC_000001.9:g.3729605C>T	NCBI36
NG_046726.1:g.39053G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378230.8:c.2564G>A MANE Select	ENSP00000367476.3:p.Gly855Glu
ENST00000428079.6:c.2564G>A	ENSP00000394989.2:p.Gly855Glu
ENST00000438539.6:n.1611G>A
ENST00000461667.2:c.2564G>A	ENSP00000463605.2:p.Gly855Glu
ENST00000674544.1:c.2390G>A	ENSP00000502641.1:p.Gly797Glu
ENST00000674558.1:c.2564G>A	ENSP00000501829.1:p.Gly855Glu
ENST00000674623.1:c.2564G>A	ENSP00000501733.1:p.Gly855Glu
ENST00000674879.1:n.3500G>A
ENST00000674985.1:c.*1422G>A	ENSP00000502482.1:n.*1422G>A
ENST00000675108.1:c.*2639+243G>A	ENSP00000502131.1:n.*2639+243G>A
ENST00000675200.1:c.*443G>A	ENSP00000502512.1:n.*443G>A
ENST00000675334.1:n.2368G>A
ENST00000675375.1:c.2390G>A	ENSP00000502180.1:p.Gly797Glu
ENST00000675666.1:c.2503+243G>A	ENSP00000502548.1:n.2503+243G>A
ENST00000675677.1:c.2366G>A	ENSP00000501944.1:p.Gly789Glu
ENST00000675750.1:c.*1893G>A	ENSP00000502342.1:n.*1893G>A
ENST00000675966.1:n.4236G>A
ENST00000676009.1:c.*313G>A	ENSP00000502246.1:n.*313G>A
ENST00000676052.1:c.2582G>A	ENSP00000502793.1:p.Gly861Glu
ENST00000378230.7:c.2564G>A	ENSP00000367476.3:p.Gly855Glu
ENST00000438539.5:c.454G>A
ENST00000461667.1:c.521G>A	ENSP00000463605.1:p.Gly174Glu
NM_014704.3:c.2564G>A	NP_055519.1:p.Gly855Glu
XM_005244815.3:c.2672G>A	XP_005244872.1:p.Gly891Glu
XM_011542473.1:c.2690G>A	XP_011540775.1:p.Gly897Glu
XM_011542474.1:c.2582G>A	XP_011540776.1:p.Gly861Glu
XM_011542475.1:c.2516G>A	XP_011540777.1:p.Gly839Glu
XM_011542476.1:c.2492G>A	XP_011540778.1:p.Gly831Glu
XM_011542477.1:c.2318G>A	XP_011540779.1:p.Gly773Glu
XM_005244815.4:c.2672G>A	XP_005244872.1:p.Gly891Glu
XM_011542474.3:c.2582G>A	XP_011540776.1:p.Gly861Glu
XM_017002918.2:c.2390G>A	XP_016858407.1:p.Gly797Glu
XM_017002919.2:c.2366G>A	XP_016858408.1:p.Gly789Glu
XM_024451101.1:c.2690G>A	XP_024306869.1:p.Gly897Glu
XM_024451102.1:c.2516G>A	XP_024306870.1:p.Gly839Glu
XM_024451103.1:c.2498G>A	XP_024306871.1:p.Gly833Glu
XM_024451104.1:c.2492G>A	XP_024306872.1:p.Gly831Glu
XM_024451106.1:c.2318G>A	XP_024306874.1:p.Gly773Glu
NM_014704.4:c.2564G>A MANE Select	NP_055519.1:p.Gly855Glu