Canonical Allele Identifier: CA551699

Gene: CEP104

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.3836643T>C , CM000663.2:g.3836643T>C	GRCh38
NC_000001.10:g.3753207T>C , CM000663.1:g.3753207T>C	GRCh37
NC_000001.9:g.3743067T>C	NCBI36
NG_046726.1:g.25591A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_014704.4:c.1169A>G MANE Select	NP_055519.1:p.His390Arg
ENST00000378230.8:c.1169A>G MANE Select	ENSP00000367476.3:p.His390Arg
NM_014704.3:c.1169A>G	NP_055519.1:p.His390Arg
ENST00000378230.7:c.1169A>G	ENSP00000367476.3:p.His390Arg
ENST00000428079.6:c.1169A>G	ENSP00000394989.2:p.His390Arg
ENST00000438539.6:n.364+146A>G
ENST00000443466.1:c.251A>G	ENSP00000411927.1:p.His84Arg
ENST00000460038.5:n.222+272A>G
ENST00000461667.2:c.1169A>G	ENSP00000463605.2:p.His390Arg
ENST00000494653.5:n.1493A>G
ENST00000674544.1:c.995A>G	ENSP00000502641.1:p.His332Arg
ENST00000674558.1:c.1169A>G	ENSP00000501829.1:p.His390Arg
ENST00000674623.1:c.1169A>G	ENSP00000501733.1:p.His390Arg
ENST00000674879.1:n.2105A>G
ENST00000674985.1:c.*27A>G	ENSP00000502482.1:n.*27A>G
ENST00000675108.1:c.*1085A>G	ENSP00000502131.1:n.*1085A>G
ENST00000675200.1:c.995A>G	ENSP00000502512.1:p.His332Arg
ENST00000675334.1:n.973A>G
ENST00000675375.1:c.995A>G	ENSP00000502180.1:p.His332Arg
ENST00000675666.1:c.1169A>G	ENSP00000502548.1:p.His390Arg
ENST00000675677.1:c.1119+649A>G	ENSP00000501944.1:n.1119+649A>G
ENST00000675750.1:c.*498A>G	ENSP00000502342.1:n.*498A>G
ENST00000675966.1:n.2841A>G
ENST00000676009.1:c.1169A>G	ENSP00000502246.1:p.His390Arg
ENST00000676052.1:c.1187A>G	ENSP00000502793.1:p.His396Arg
XM_005244815.3:c.1277A>G	XP_005244872.1:p.His426Arg
XM_005244815.4:c.1277A>G	XP_005244872.1:p.His426Arg
XM_011542473.1:c.1295A>G	XP_011540775.1:p.His432Arg
XM_011542474.1:c.1187A>G	XP_011540776.1:p.His396Arg
XM_011542474.3:c.1187A>G	XP_011540776.1:p.His396Arg
XM_011542475.1:c.1121A>G	XP_011540777.1:p.His374Arg
XM_011542476.1:c.1245+649A>G	XP_011540778.1:n.1245+649A>G
XM_011542477.1:c.1071+649A>G	XP_011540779.1:n.1071+649A>G
XM_011542478.1:c.1295A>G	XP_011540780.1:p.His432Arg
XM_017002918.2:c.995A>G	XP_016858407.1:p.His332Arg
XM_017002919.2:c.1119+649A>G	XP_016858408.1:n.1119+649A>G
XM_024451101.1:c.1295A>G	XP_024306869.1:p.His432Arg
XM_024451102.1:c.1121A>G	XP_024306870.1:p.His374Arg
XM_024451103.1:c.1103A>G	XP_024306871.1:p.His368Arg
XM_024451104.1:c.1245+649A>G	XP_024306872.1:n.1245+649A>G
XM_024451106.1:c.1071+649A>G	XP_024306874.1:n.1071+649A>G
XM_024451108.1:c.1295A>G	XP_024306876.1:p.His432Arg