Canonical Allele Identifier: CA338038931

Gene: CEP104

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.3829955C>A , CM000663.2:g.3829955C>A	GRCh38
NC_000001.10:g.3746519C>A , CM000663.1:g.3746519C>A	GRCh37
NC_000001.9:g.3736379C>A	NCBI36
NG_046726.1:g.32279G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_014704.4:c.1879G>T MANE Select	NP_055519.1:p.Glu627Ter
ENST00000378230.8:c.1879G>T MANE Select	ENSP00000367476.3:p.Glu627Ter
NM_014704.3:c.1879G>T	NP_055519.1:p.Glu627Ter
ENST00000378230.7:c.1879G>T	ENSP00000367476.3:p.Glu627Ter
ENST00000428079.6:c.1879G>T	ENSP00000394989.2:p.Glu627Ter
ENST00000438539.6:n.926G>T
ENST00000461667.2:c.1879G>T	ENSP00000463605.2:p.Glu627Ter
ENST00000495701.1:n.222G>T
ENST00000674544.1:c.1705G>T	ENSP00000502641.1:p.Glu569Ter
ENST00000674558.1:c.1879G>T	ENSP00000501829.1:p.Glu627Ter
ENST00000674623.1:c.1879G>T	ENSP00000501733.1:p.Glu627Ter
ENST00000674879.1:n.2815G>T
ENST00000674985.1:c.*737G>T	ENSP00000502482.1:n.*737G>T
ENST00000675108.1:c.*1795G>T	ENSP00000502131.1:n.*1795G>T
ENST00000675200.1:c.1705G>T	ENSP00000502512.1:p.Glu569Ter
ENST00000675334.1:n.1683G>T
ENST00000675375.1:c.1705G>T	ENSP00000502180.1:p.Glu569Ter
ENST00000675666.1:c.1879G>T	ENSP00000502548.1:p.Glu627Ter
ENST00000675677.1:c.1681G>T	ENSP00000501944.1:p.Glu561Ter
ENST00000675750.1:c.*1208G>T	ENSP00000502342.1:n.*1208G>T
ENST00000675966.1:n.3551G>T
ENST00000676009.1:c.1879G>T	ENSP00000502246.1:p.Glu627Ter
ENST00000676052.1:c.1897G>T	ENSP00000502793.1:p.Glu633Ter
XM_005244815.3:c.1987G>T	XP_005244872.1:p.Glu663Ter
XM_005244815.4:c.1987G>T	XP_005244872.1:p.Glu663Ter
XM_011542473.1:c.2005G>T	XP_011540775.1:p.Glu669Ter
XM_011542474.1:c.1897G>T	XP_011540776.1:p.Glu633Ter
XM_011542474.3:c.1897G>T	XP_011540776.1:p.Glu633Ter
XM_011542475.1:c.1831G>T	XP_011540777.1:p.Glu611Ter
XM_011542476.1:c.1807G>T	XP_011540778.1:p.Glu603Ter
XM_011542477.1:c.1633G>T	XP_011540779.1:p.Glu545Ter
XM_011542478.1:c.2005G>T	XP_011540780.1:p.Glu669Ter
XM_017002918.2:c.1705G>T	XP_016858407.1:p.Glu569Ter
XM_017002919.2:c.1681G>T	XP_016858408.1:p.Glu561Ter
XM_024451101.1:c.2005G>T	XP_024306869.1:p.Glu669Ter
XM_024451102.1:c.1831G>T	XP_024306870.1:p.Glu611Ter
XM_024451103.1:c.1813G>T	XP_024306871.1:p.Glu605Ter
XM_024451104.1:c.1807G>T	XP_024306872.1:p.Glu603Ter
XM_024451106.1:c.1633G>T	XP_024306874.1:p.Glu545Ter
XM_024451108.1:c.2005G>T	XP_024306876.1:p.Glu669Ter