Canonical Allele Identifier: CA551934

Gene: CEP104

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.3844923C>G , CM000663.2:g.3844923C>G	GRCh38
NC_000001.10:g.3761487C>G , CM000663.1:g.3761487C>G	GRCh37
NC_000001.9:g.3751347C>G	NCBI36
NG_046726.1:g.17311G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_014704.4:c.550G>C MANE Select	NP_055519.1:p.Glu184Gln
ENST00000378230.8:c.550G>C MANE Select	ENSP00000367476.3:p.Glu184Gln
NM_014704.3:c.550G>C	NP_055519.1:p.Glu184Gln
ENST00000378223.3:c.550G>C	ENSP00000367468.3:p.Glu184Gln
ENST00000378230.7:c.550G>C	ENSP00000367476.3:p.Glu184Gln
ENST00000428079.5:c.376G>C	ENSP00000394989.1:p.Glu126Gln
ENST00000428079.6:c.550G>C	ENSP00000394989.2:p.Glu184Gln
ENST00000461667.2:c.550G>C	ENSP00000463605.2:p.Glu184Gln
ENST00000494653.5:n.874G>C
ENST00000494951.1:n.354G>C
ENST00000674544.1:c.376G>C	ENSP00000502641.1:p.Glu126Gln
ENST00000674558.1:c.550G>C	ENSP00000501829.1:p.Glu184Gln
ENST00000674623.1:c.550G>C	ENSP00000501733.1:p.Glu184Gln
ENST00000674879.1:n.887G>C
ENST00000674985.1:c.550G>C	ENSP00000502482.1:p.Glu184Gln
ENST00000675108.1:c.*466G>C	ENSP00000502131.1:n.*466G>C
ENST00000675200.1:c.550G>C	ENSP00000502512.1:p.Glu184Gln
ENST00000675334.1:n.354G>C
ENST00000675375.1:c.550G>C	ENSP00000502180.1:p.Glu184Gln
ENST00000675520.1:n.887G>C
ENST00000675666.1:c.550G>C	ENSP00000502548.1:p.Glu184Gln
ENST00000675677.1:c.550G>C	ENSP00000501944.1:p.Glu184Gln
ENST00000675750.1:c.550G>C	ENSP00000502342.1:p.Glu184Gln
ENST00000675966.1:n.778G>C
ENST00000676009.1:c.550G>C	ENSP00000502246.1:p.Glu184Gln
ENST00000676052.1:c.568G>C	ENSP00000502793.1:p.Glu190Gln
XM_005244815.3:c.658G>C	XP_005244872.1:p.Glu220Gln
XM_005244815.4:c.658G>C	XP_005244872.1:p.Glu220Gln
XM_011542473.1:c.676G>C	XP_011540775.1:p.Glu226Gln
XM_011542474.1:c.568G>C	XP_011540776.1:p.Glu190Gln
XM_011542474.3:c.568G>C	XP_011540776.1:p.Glu190Gln
XM_011542475.1:c.676G>C	XP_011540777.1:p.Glu226Gln
XM_011542476.1:c.676G>C	XP_011540778.1:p.Glu226Gln
XM_011542477.1:c.676G>C	XP_011540779.1:p.Glu226Gln
XM_011542478.1:c.676G>C	XP_011540780.1:p.Glu226Gln
XM_017002918.2:c.550G>C	XP_016858407.1:p.Glu184Gln
XM_017002919.2:c.550G>C	XP_016858408.1:p.Glu184Gln
XM_024451101.1:c.676G>C	XP_024306869.1:p.Glu226Gln
XM_024451102.1:c.676G>C	XP_024306870.1:p.Glu226Gln
XM_024451103.1:c.658G>C	XP_024306871.1:p.Glu220Gln
XM_024451104.1:c.676G>C	XP_024306872.1:p.Glu226Gln
XM_024451106.1:c.676G>C	XP_024306874.1:p.Glu226Gln
XM_024451108.1:c.676G>C	XP_024306876.1:p.Glu226Gln