Canonical Allele Identifier: CA551770

Gene: CEP104

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.3837516G>A , CM000663.2:g.3837516G>A	GRCh38
NC_000001.10:g.3754080G>A , CM000663.1:g.3754080G>A	GRCh37
NC_000001.9:g.3743940G>A	NCBI36
NG_046726.1:g.24718C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_014704.4:c.895C>T MANE Select	NP_055519.1:p.Arg299Ter
ENST00000378230.8:c.895C>T MANE Select	ENSP00000367476.3:p.Arg299Ter
NM_014704.3:c.895C>T	NP_055519.1:p.Arg299Ter
ENST00000378230.7:c.895C>T	ENSP00000367476.3:p.Arg299Ter
ENST00000428079.6:c.895C>T	ENSP00000394989.2:p.Arg299Ter
ENST00000443466.1:c.148-171C>T	ENSP00000411927.1:n.148-171C>T
ENST00000461667.2:c.895C>T	ENSP00000463605.2:p.Arg299Ter
ENST00000494653.5:n.1219C>T
ENST00000674544.1:c.721C>T	ENSP00000502641.1:p.Arg241Ter
ENST00000674558.1:c.895C>T	ENSP00000501829.1:p.Arg299Ter
ENST00000674623.1:c.895C>T	ENSP00000501733.1:p.Arg299Ter
ENST00000674879.1:n.1232C>T
ENST00000674985.1:c.895C>T	ENSP00000502482.1:p.Arg299Ter
ENST00000675108.1:c.*811C>T	ENSP00000502131.1:n.*811C>T
ENST00000675200.1:c.892-171C>T	ENSP00000502512.1:n.892-171C>T
ENST00000675334.1:n.699C>T
ENST00000675375.1:c.892-171C>T	ENSP00000502180.1:n.892-171C>T
ENST00000675666.1:c.895C>T	ENSP00000502548.1:p.Arg299Ter
ENST00000675677.1:c.895C>T	ENSP00000501944.1:p.Arg299Ter
ENST00000675750.1:c.*395-171C>T	ENSP00000502342.1:n.*395-171C>T
ENST00000675966.1:n.2567C>T
ENST00000676009.1:c.895C>T	ENSP00000502246.1:p.Arg299Ter
ENST00000676052.1:c.913C>T	ENSP00000502793.1:p.Arg305Ter
XM_005244815.3:c.1003C>T	XP_005244872.1:p.Arg335Ter
XM_005244815.4:c.1003C>T	XP_005244872.1:p.Arg335Ter
XM_011542473.1:c.1021C>T	XP_011540775.1:p.Arg341Ter
XM_011542474.1:c.913C>T	XP_011540776.1:p.Arg305Ter
XM_011542474.3:c.913C>T	XP_011540776.1:p.Arg305Ter
XM_011542475.1:c.1018-171C>T	XP_011540777.1:n.1018-171C>T
XM_011542476.1:c.1021C>T	XP_011540778.1:p.Arg341Ter
XM_011542477.1:c.1018-171C>T	XP_011540779.1:n.1018-171C>T
XM_011542478.1:c.1021C>T	XP_011540780.1:p.Arg341Ter
XM_017002918.2:c.892-171C>T	XP_016858407.1:n.892-171C>T
XM_017002919.2:c.895C>T	XP_016858408.1:p.Arg299Ter
XM_024451101.1:c.1021C>T	XP_024306869.1:p.Arg341Ter
XM_024451102.1:c.1018-171C>T	XP_024306870.1:n.1018-171C>T
XM_024451103.1:c.1000-171C>T	XP_024306871.1:n.1000-171C>T
XM_024451104.1:c.1021C>T	XP_024306872.1:p.Arg341Ter
XM_024451106.1:c.1018-171C>T	XP_024306874.1:n.1018-171C>T
XM_024451108.1:c.1021C>T	XP_024306876.1:p.Arg341Ter