Canonical Allele Identifier: CA551169
Community Standard Title: NM_014704.4(CEP104):c.2755A>G (p.Ser919Gly)
Gene: CEP104 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.3815425T>C , CM000663.2:g.3815425T>C GRCh38
NC_000001.10:g.3731989T>C , CM000663.1:g.3731989T>C GRCh37
NC_000001.9:g.3721849T>C NCBI36
NG_046726.1:g.46809A>G

Transcript Alleles

HGVS Amino-acid Change
NM_014704.4:c.2755A>G MANE Select NP_055519.1:p.Ser919Gly
ENST00000378230.8:c.2755A>G MANE Select ENSP00000367476.3:p.Ser919Gly
NM_014704.3:c.2755A>G NP_055519.1:p.Ser919Gly
ENST00000378230.7:c.2755A>G ENSP00000367476.3:p.Ser919Gly
ENST00000484420.1:n.272A>G
ENST00000674544.1:c.2581A>G ENSP00000502641.1:p.Ser861Gly
ENST00000674558.1:c.2755A>G ENSP00000501829.1:p.Ser919Gly
ENST00000674623.1:c.2755A>G ENSP00000501733.1:p.Ser919Gly
ENST00000674879.1:n.3691A>G
ENST00000674985.1:c.*1613A>G ENSP00000502482.1:n.*1613A>G
ENST00000675108.1:c.*2823A>G ENSP00000502131.1:n.*2823A>G
ENST00000675200.1:c.*634A>G ENSP00000502512.1:n.*634A>G
ENST00000675334.1:n.2559A>G
ENST00000675375.1:c.2581A>G ENSP00000502180.1:p.Ser861Gly
ENST00000675666.1:c.2687A>G ENSP00000502548.1:p.Gln896Arg
ENST00000675677.1:c.2557A>G ENSP00000501944.1:p.Ser853Gly
ENST00000675750.1:c.*2084A>G ENSP00000502342.1:n.*2084A>G
ENST00000675966.1:n.4427A>G
ENST00000676009.1:c.*504A>G ENSP00000502246.1:n.*504A>G
ENST00000676052.1:c.2773A>G ENSP00000502793.1:p.Ser925Gly
XM_005244815.3:c.2863A>G XP_005244872.1:p.Ser955Gly
XM_005244815.4:c.2863A>G XP_005244872.1:p.Ser955Gly
XM_011542473.1:c.2881A>G XP_011540775.1:p.Ser961Gly
XM_011542474.1:c.2773A>G XP_011540776.1:p.Ser925Gly
XM_011542474.3:c.2773A>G XP_011540776.1:p.Ser925Gly
XM_011542475.1:c.2707A>G XP_011540777.1:p.Ser903Gly
XM_011542476.1:c.2683A>G XP_011540778.1:p.Ser895Gly
XM_011542477.1:c.2509A>G XP_011540779.1:p.Ser837Gly
XM_017002918.2:c.2581A>G XP_016858407.1:p.Ser861Gly
XM_017002919.2:c.2557A>G XP_016858408.1:p.Ser853Gly
XM_024451101.1:c.2881A>G XP_024306869.1:p.Ser961Gly
XM_024451102.1:c.2707A>G XP_024306870.1:p.Ser903Gly
XM_024451103.1:c.2689A>G XP_024306871.1:p.Ser897Gly
XM_024451104.1:c.2683A>G XP_024306872.1:p.Ser895Gly
XM_024451106.1:c.2509A>G XP_024306874.1:p.Ser837Gly