Canonical Allele Identifier: CA17060365

Gene: CEP104

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.3816148A>G , CM000663.2:g.3816148A>G	GRCh38
NC_000001.10:g.3732712A>G , CM000663.1:g.3732712A>G	GRCh37
NC_000001.9:g.3722572A>G	NCBI36
NG_046726.1:g.46086T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_014704.4:c.2662+132T>C MANE Select	NP_055519.1:n.2662+132T>C
ENST00000378230.8:c.2662+132T>C MANE Select	ENSP00000367476.3:n.2662+132T>C
NM_014704.3:c.2662+132T>C	NP_055519.1:n.2662+132T>C
ENST00000378230.7:c.2662+132T>C	ENSP00000367476.3:n.2662+132T>C
ENST00000484420.1:n.179+132T>C
ENST00000674544.1:c.2488+132T>C	ENSP00000502641.1:n.2488+132T>C
ENST00000674558.1:c.2662+132T>C	ENSP00000501829.1:n.2662+132T>C
ENST00000674623.1:c.2662+132T>C	ENSP00000501733.1:n.2662+132T>C
ENST00000674879.1:n.3598+132T>C
ENST00000674985.1:c.*1520+132T>C	ENSP00000502482.1:n.*1520+132T>C
ENST00000675108.1:c.*2730+132T>C	ENSP00000502131.1:n.*2730+132T>C
ENST00000675200.1:c.*541+132T>C	ENSP00000502512.1:n.*541+132T>C
ENST00000675334.1:n.2466+132T>C
ENST00000675375.1:c.2488+132T>C	ENSP00000502180.1:n.2488+132T>C
ENST00000675666.1:c.2594+132T>C	ENSP00000502548.1:n.2594+132T>C
ENST00000675677.1:c.2464+132T>C	ENSP00000501944.1:n.2464+132T>C
ENST00000675750.1:c.*1991+132T>C	ENSP00000502342.1:n.*1991+132T>C
ENST00000675966.1:n.4334+132T>C
ENST00000676009.1:c.*411+132T>C	ENSP00000502246.1:n.*411+132T>C
ENST00000676052.1:c.2680+132T>C	ENSP00000502793.1:n.2680+132T>C
XM_005244815.3:c.2770+132T>C	XP_005244872.1:n.2770+132T>C
XM_005244815.4:c.2770+132T>C	XP_005244872.1:n.2770+132T>C
XM_011542473.1:c.2788+132T>C	XP_011540775.1:n.2788+132T>C
XM_011542474.1:c.2680+132T>C	XP_011540776.1:n.2680+132T>C
XM_011542474.3:c.2680+132T>C	XP_011540776.1:n.2680+132T>C
XM_011542475.1:c.2614+132T>C	XP_011540777.1:n.2614+132T>C
XM_011542476.1:c.2590+132T>C	XP_011540778.1:n.2590+132T>C
XM_011542477.1:c.2416+132T>C	XP_011540779.1:n.2416+132T>C
XM_017002918.2:c.2488+132T>C	XP_016858407.1:n.2488+132T>C
XM_017002919.2:c.2464+132T>C	XP_016858408.1:n.2464+132T>C
XM_024451101.1:c.2788+132T>C	XP_024306869.1:n.2788+132T>C
XM_024451102.1:c.2614+132T>C	XP_024306870.1:n.2614+132T>C
XM_024451103.1:c.2596+132T>C	XP_024306871.1:n.2596+132T>C
XM_024451104.1:c.2590+132T>C	XP_024306872.1:n.2590+132T>C
XM_024451106.1:c.2416+132T>C	XP_024306874.1:n.2416+132T>C