Canonical Allele Identifier: CA551385

Gene: CEP104

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.3826714T>C , CM000663.2:g.3826714T>C	GRCh38
NC_000001.10:g.3743278T>C , CM000663.1:g.3743278T>C	GRCh37
NC_000001.9:g.3733138T>C	NCBI36
NG_046726.1:g.35520A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_014704.4:c.2182A>G MANE Select	NP_055519.1:p.Asn728Asp
ENST00000378230.8:c.2182A>G MANE Select	ENSP00000367476.3:p.Asn728Asp
NM_014704.3:c.2182A>G	NP_055519.1:p.Asn728Asp
ENST00000378230.7:c.2182A>G	ENSP00000367476.3:p.Asn728Asp
ENST00000428079.6:c.2182A>G	ENSP00000394989.2:p.Asn728Asp
ENST00000438539.5:c.72A>G
ENST00000438539.6:n.1229A>G
ENST00000461667.1:c.139A>G	ENSP00000463605.1:p.Asn47Asp
ENST00000461667.2:c.2182A>G	ENSP00000463605.2:p.Asn728Asp
ENST00000674544.1:c.2008A>G	ENSP00000502641.1:p.Asn670Asp
ENST00000674558.1:c.2182A>G	ENSP00000501829.1:p.Asn728Asp
ENST00000674623.1:c.2182A>G	ENSP00000501733.1:p.Asn728Asp
ENST00000674879.1:n.3118A>G
ENST00000674985.1:c.*1040A>G	ENSP00000502482.1:n.*1040A>G
ENST00000675108.1:c.*2318A>G	ENSP00000502131.1:n.*2318A>G
ENST00000675200.1:c.*61A>G	ENSP00000502512.1:n.*61A>G
ENST00000675334.1:n.1986A>G
ENST00000675375.1:c.2008A>G	ENSP00000502180.1:p.Asn670Asp
ENST00000675666.1:c.2182A>G	ENSP00000502548.1:p.Asn728Asp
ENST00000675677.1:c.1984A>G	ENSP00000501944.1:p.Asn662Asp
ENST00000675750.1:c.*1511A>G	ENSP00000502342.1:n.*1511A>G
ENST00000675966.1:n.3854A>G
ENST00000676009.1:c.2152-278A>G	ENSP00000502246.1:n.2152-278A>G
ENST00000676052.1:c.2200A>G	ENSP00000502793.1:p.Asn734Asp
XM_005244815.3:c.2290A>G	XP_005244872.1:p.Asn764Asp
XM_005244815.4:c.2290A>G	XP_005244872.1:p.Asn764Asp
XM_011542473.1:c.2308A>G	XP_011540775.1:p.Asn770Asp
XM_011542474.1:c.2200A>G	XP_011540776.1:p.Asn734Asp
XM_011542474.3:c.2200A>G	XP_011540776.1:p.Asn734Asp
XM_011542475.1:c.2134A>G	XP_011540777.1:p.Asn712Asp
XM_011542476.1:c.2110A>G	XP_011540778.1:p.Asn704Asp
XM_011542477.1:c.1936A>G	XP_011540779.1:p.Asn646Asp
XM_017002918.2:c.2008A>G	XP_016858407.1:p.Asn670Asp
XM_017002919.2:c.1984A>G	XP_016858408.1:p.Asn662Asp
XM_024451101.1:c.2308A>G	XP_024306869.1:p.Asn770Asp
XM_024451102.1:c.2134A>G	XP_024306870.1:p.Asn712Asp
XM_024451103.1:c.2116A>G	XP_024306871.1:p.Asn706Asp
XM_024451104.1:c.2110A>G	XP_024306872.1:p.Asn704Asp
XM_024451106.1:c.1936A>G	XP_024306874.1:p.Asn646Asp