Canonical Allele Identifier: CA17084804

Gene: CEP104

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.3836668G>C , CM000663.2:g.3836668G>C	GRCh38
NC_000001.10:g.3753232G>C , CM000663.1:g.3753232G>C	GRCh37
NC_000001.9:g.3743092G>C	NCBI36
NG_046726.1:g.25566C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_014704.4:c.1144C>G MANE Select	NP_055519.1:p.Arg382Gly
ENST00000378230.8:c.1144C>G MANE Select	ENSP00000367476.3:p.Arg382Gly
NM_014704.3:c.1144C>G	NP_055519.1:p.Arg382Gly
ENST00000378230.7:c.1144C>G	ENSP00000367476.3:p.Arg382Gly
ENST00000428079.6:c.1144C>G	ENSP00000394989.2:p.Arg382Gly
ENST00000438539.6:n.364+121C>G
ENST00000443466.1:c.226C>G	ENSP00000411927.1:p.Arg76Gly
ENST00000460038.5:n.222+247C>G
ENST00000461667.2:c.1144C>G	ENSP00000463605.2:p.Arg382Gly
ENST00000494653.5:n.1468C>G
ENST00000674544.1:c.970C>G	ENSP00000502641.1:p.Arg324Gly
ENST00000674558.1:c.1144C>G	ENSP00000501829.1:p.Arg382Gly
ENST00000674623.1:c.1144C>G	ENSP00000501733.1:p.Arg382Gly
ENST00000674879.1:n.2080C>G
ENST00000674985.1:c.*2C>G	ENSP00000502482.1:n.*2C>G
ENST00000675108.1:c.*1060C>G	ENSP00000502131.1:n.*1060C>G
ENST00000675200.1:c.970C>G	ENSP00000502512.1:p.Arg324Gly
ENST00000675334.1:n.948C>G
ENST00000675375.1:c.970C>G	ENSP00000502180.1:p.Arg324Gly
ENST00000675666.1:c.1144C>G	ENSP00000502548.1:p.Arg382Gly
ENST00000675677.1:c.1119+624C>G	ENSP00000501944.1:n.1119+624C>G
ENST00000675750.1:c.*473C>G	ENSP00000502342.1:n.*473C>G
ENST00000675966.1:n.2816C>G
ENST00000676009.1:c.1144C>G	ENSP00000502246.1:p.Arg382Gly
ENST00000676052.1:c.1162C>G	ENSP00000502793.1:p.Arg388Gly
XM_005244815.3:c.1252C>G	XP_005244872.1:p.Arg418Gly
XM_005244815.4:c.1252C>G	XP_005244872.1:p.Arg418Gly
XM_011542473.1:c.1270C>G	XP_011540775.1:p.Arg424Gly
XM_011542474.1:c.1162C>G	XP_011540776.1:p.Arg388Gly
XM_011542474.3:c.1162C>G	XP_011540776.1:p.Arg388Gly
XM_011542475.1:c.1096C>G	XP_011540777.1:p.Arg366Gly
XM_011542476.1:c.1245+624C>G	XP_011540778.1:n.1245+624C>G
XM_011542477.1:c.1071+624C>G	XP_011540779.1:n.1071+624C>G
XM_011542478.1:c.1270C>G	XP_011540780.1:p.Arg424Gly
XM_017002918.2:c.970C>G	XP_016858407.1:p.Arg324Gly
XM_017002919.2:c.1119+624C>G	XP_016858408.1:n.1119+624C>G
XM_024451101.1:c.1270C>G	XP_024306869.1:p.Arg424Gly
XM_024451102.1:c.1096C>G	XP_024306870.1:p.Arg366Gly
XM_024451103.1:c.1078C>G	XP_024306871.1:p.Arg360Gly
XM_024451104.1:c.1245+624C>G	XP_024306872.1:n.1245+624C>G
XM_024451106.1:c.1071+624C>G	XP_024306874.1:n.1071+624C>G
XM_024451108.1:c.1270C>G	XP_024306876.1:p.Arg424Gly