Canonical Allele Identifier: CA551359

Gene: CEP104

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.3826379T>G , CM000663.2:g.3826379T>G	GRCh38
NC_000001.10:g.3742943T>G , CM000663.1:g.3742943T>G	GRCh37
NC_000001.9:g.3732803T>G	NCBI36
NG_046726.1:g.35855A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_014704.4:c.2246A>C MANE Select	NP_055519.1:p.Tyr749Ser
ENST00000378230.8:c.2246A>C MANE Select	ENSP00000367476.3:p.Tyr749Ser
NM_014704.3:c.2246A>C	NP_055519.1:p.Tyr749Ser
ENST00000378230.7:c.2246A>C	ENSP00000367476.3:p.Tyr749Ser
ENST00000428079.6:c.2246A>C	ENSP00000394989.2:p.Tyr749Ser
ENST00000438539.5:c.136A>C
ENST00000438539.6:n.1293A>C
ENST00000461667.1:c.203A>C	ENSP00000463605.1:p.Tyr68Ser
ENST00000461667.2:c.2246A>C	ENSP00000463605.2:p.Tyr749Ser
ENST00000674544.1:c.2072A>C	ENSP00000502641.1:p.Tyr691Ser
ENST00000674558.1:c.2246A>C	ENSP00000501829.1:p.Tyr749Ser
ENST00000674623.1:c.2246A>C	ENSP00000501733.1:p.Tyr749Ser
ENST00000674879.1:n.3182A>C
ENST00000674985.1:c.*1104A>C	ENSP00000502482.1:n.*1104A>C
ENST00000675108.1:c.*2382A>C	ENSP00000502131.1:n.*2382A>C
ENST00000675200.1:c.*125A>C	ENSP00000502512.1:n.*125A>C
ENST00000675334.1:n.2050A>C
ENST00000675375.1:c.2072A>C	ENSP00000502180.1:p.Tyr691Ser
ENST00000675666.1:c.2246A>C	ENSP00000502548.1:p.Tyr749Ser
ENST00000675677.1:c.2048A>C	ENSP00000501944.1:p.Tyr683Ser
ENST00000675750.1:c.*1575A>C	ENSP00000502342.1:n.*1575A>C
ENST00000675966.1:n.3918A>C
ENST00000676009.1:c.2209A>C	ENSP00000502246.1:p.Ile737Leu
ENST00000676052.1:c.2264A>C	ENSP00000502793.1:p.Tyr755Ser
XM_005244815.3:c.2354A>C	XP_005244872.1:p.Tyr785Ser
XM_005244815.4:c.2354A>C	XP_005244872.1:p.Tyr785Ser
XM_011542473.1:c.2372A>C	XP_011540775.1:p.Tyr791Ser
XM_011542474.1:c.2264A>C	XP_011540776.1:p.Tyr755Ser
XM_011542474.3:c.2264A>C	XP_011540776.1:p.Tyr755Ser
XM_011542475.1:c.2198A>C	XP_011540777.1:p.Tyr733Ser
XM_011542476.1:c.2174A>C	XP_011540778.1:p.Tyr725Ser
XM_011542477.1:c.2000A>C	XP_011540779.1:p.Tyr667Ser
XM_017002918.2:c.2072A>C	XP_016858407.1:p.Tyr691Ser
XM_017002919.2:c.2048A>C	XP_016858408.1:p.Tyr683Ser
XM_024451101.1:c.2372A>C	XP_024306869.1:p.Tyr791Ser
XM_024451102.1:c.2198A>C	XP_024306870.1:p.Tyr733Ser
XM_024451103.1:c.2180A>C	XP_024306871.1:p.Tyr727Ser
XM_024451104.1:c.2174A>C	XP_024306872.1:p.Tyr725Ser
XM_024451106.1:c.2000A>C	XP_024306874.1:p.Tyr667Ser