Canonical Allele Identifier: CA551567

Gene: CEP104

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.3833933T>C , CM000663.2:g.3833933T>C	GRCh38
NC_000001.10:g.3750497T>C , CM000663.1:g.3750497T>C	GRCh37
NC_000001.9:g.3740357T>C	NCBI36
NG_046726.1:g.28301A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378230.8:c.1588A>G MANE Select	ENSP00000367476.3:p.Ile530Val
ENST00000428079.6:c.1588A>G	ENSP00000394989.2:p.Ile530Val
ENST00000438539.6:n.635A>G
ENST00000461667.2:c.1588A>G	ENSP00000463605.2:p.Ile530Val
ENST00000674544.1:c.1414A>G	ENSP00000502641.1:p.Ile472Val
ENST00000674558.1:c.1588A>G	ENSP00000501829.1:p.Ile530Val
ENST00000674623.1:c.1588A>G	ENSP00000501733.1:p.Ile530Val
ENST00000674879.1:n.2524A>G
ENST00000674985.1:c.*446A>G	ENSP00000502482.1:n.*446A>G
ENST00000675108.1:c.*1504A>G	ENSP00000502131.1:n.*1504A>G
ENST00000675200.1:c.1414A>G	ENSP00000502512.1:p.Ile472Val
ENST00000675334.1:n.1392A>G
ENST00000675375.1:c.1414A>G	ENSP00000502180.1:p.Ile472Val
ENST00000675666.1:c.1588A>G	ENSP00000502548.1:p.Ile530Val
ENST00000675677.1:c.1390A>G	ENSP00000501944.1:p.Ile464Val
ENST00000675750.1:c.*917A>G	ENSP00000502342.1:n.*917A>G
ENST00000675966.1:n.3260A>G
ENST00000676009.1:c.1588A>G	ENSP00000502246.1:p.Ile530Val
ENST00000676052.1:c.1606A>G	ENSP00000502793.1:p.Ile536Val
ENST00000378230.7:c.1588A>G	ENSP00000367476.3:p.Ile530Val
ENST00000460038.5:n.493A>G
ENST00000494653.5:n.1912A>G
NM_014704.3:c.1588A>G	NP_055519.1:p.Ile530Val
XM_005244815.3:c.1696A>G	XP_005244872.1:p.Ile566Val
XM_011542473.1:c.1714A>G	XP_011540775.1:p.Ile572Val
XM_011542474.1:c.1606A>G	XP_011540776.1:p.Ile536Val
XM_011542475.1:c.1540A>G	XP_011540777.1:p.Ile514Val
XM_011542476.1:c.1516A>G	XP_011540778.1:p.Ile506Val
XM_011542477.1:c.1342A>G	XP_011540779.1:p.Ile448Val
XM_011542478.1:c.1714A>G	XP_011540780.1:p.Ile572Val
XM_005244815.4:c.1696A>G	XP_005244872.1:p.Ile566Val
XM_011542474.3:c.1606A>G	XP_011540776.1:p.Ile536Val
XM_017002918.2:c.1414A>G	XP_016858407.1:p.Ile472Val
XM_017002919.2:c.1390A>G	XP_016858408.1:p.Ile464Val
XM_024451101.1:c.1714A>G	XP_024306869.1:p.Ile572Val
XM_024451102.1:c.1540A>G	XP_024306870.1:p.Ile514Val
XM_024451103.1:c.1522A>G	XP_024306871.1:p.Ile508Val
XM_024451104.1:c.1516A>G	XP_024306872.1:p.Ile506Val
XM_024451106.1:c.1342A>G	XP_024306874.1:p.Ile448Val
XM_024451108.1:c.1714A>G	XP_024306876.1:p.Ile572Val
NM_014704.4:c.1588A>G MANE Select	NP_055519.1:p.Ile530Val