Canonical Allele Identifier: CA551297

Gene: CEP104

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.3823504C>T , CM000663.2:g.3823504C>T	GRCh38
NC_000001.10:g.3740068C>T , CM000663.1:g.3740068C>T	GRCh37
NC_000001.9:g.3729928C>T	NCBI36
NG_046726.1:g.38730G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_014704.4:c.2423G>A MANE Select	NP_055519.1:p.Gly808Glu
ENST00000378230.8:c.2423G>A MANE Select	ENSP00000367476.3:p.Gly808Glu
NM_014704.3:c.2423G>A	NP_055519.1:p.Gly808Glu
ENST00000378230.7:c.2423G>A	ENSP00000367476.3:p.Gly808Glu
ENST00000428079.6:c.2423G>A	ENSP00000394989.2:p.Gly808Glu
ENST00000438539.5:c.313G>A
ENST00000438539.6:n.1470G>A
ENST00000461667.1:c.380G>A	ENSP00000463605.1:p.Gly127Glu
ENST00000461667.2:c.2423G>A	ENSP00000463605.2:p.Gly808Glu
ENST00000674544.1:c.2249G>A	ENSP00000502641.1:p.Gly750Glu
ENST00000674558.1:c.2423G>A	ENSP00000501829.1:p.Gly808Glu
ENST00000674623.1:c.2423G>A	ENSP00000501733.1:p.Gly808Glu
ENST00000674879.1:n.3359G>A
ENST00000674985.1:c.*1281G>A	ENSP00000502482.1:n.*1281G>A
ENST00000675108.1:c.*2559G>A	ENSP00000502131.1:n.*2559G>A
ENST00000675200.1:c.*302G>A	ENSP00000502512.1:n.*302G>A
ENST00000675334.1:n.2227G>A
ENST00000675375.1:c.2249G>A	ENSP00000502180.1:p.Gly750Glu
ENST00000675666.1:c.2423G>A	ENSP00000502548.1:p.Gly808Glu
ENST00000675677.1:c.2225G>A	ENSP00000501944.1:p.Gly742Glu
ENST00000675750.1:c.*1752G>A	ENSP00000502342.1:n.*1752G>A
ENST00000675966.1:n.4095G>A
ENST00000676009.1:c.*172G>A	ENSP00000502246.1:n.*172G>A
ENST00000676052.1:c.2441G>A	ENSP00000502793.1:p.Gly814Glu
XM_005244815.3:c.2531G>A	XP_005244872.1:p.Gly844Glu
XM_005244815.4:c.2531G>A	XP_005244872.1:p.Gly844Glu
XM_011542473.1:c.2549G>A	XP_011540775.1:p.Gly850Glu
XM_011542474.1:c.2441G>A	XP_011540776.1:p.Gly814Glu
XM_011542474.3:c.2441G>A	XP_011540776.1:p.Gly814Glu
XM_011542475.1:c.2375G>A	XP_011540777.1:p.Gly792Glu
XM_011542476.1:c.2351G>A	XP_011540778.1:p.Gly784Glu
XM_011542477.1:c.2177G>A	XP_011540779.1:p.Gly726Glu
XM_017002918.2:c.2249G>A	XP_016858407.1:p.Gly750Glu
XM_017002919.2:c.2225G>A	XP_016858408.1:p.Gly742Glu
XM_024451101.1:c.2549G>A	XP_024306869.1:p.Gly850Glu
XM_024451102.1:c.2375G>A	XP_024306870.1:p.Gly792Glu
XM_024451103.1:c.2357G>A	XP_024306871.1:p.Gly786Glu
XM_024451104.1:c.2351G>A	XP_024306872.1:p.Gly784Glu
XM_024451106.1:c.2177G>A	XP_024306874.1:p.Gly726Glu