Canonical Allele Identifier: CA551594

Gene: CEP104

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.3834924C>T , CM000663.2:g.3834924C>T	GRCh38
NC_000001.10:g.3751488C>T , CM000663.1:g.3751488C>T	GRCh37
NC_000001.9:g.3741348C>T	NCBI36
NG_046726.1:g.27310G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_014704.4:c.1485+1G>A MANE Select	NP_055519.1:n.1485+1G>A
ENST00000378230.8:c.1485+1G>A MANE Select	ENSP00000367476.3:n.1485+1G>A
NM_014704.3:c.1485+1G>A	NP_055519.1:n.1485+1G>A
ENST00000378230.7:c.1485+1G>A	ENSP00000367476.3:n.1485+1G>A
ENST00000428079.6:c.1485+1G>A	ENSP00000394989.2:n.1485+1G>A
ENST00000438539.6:n.532+1G>A
ENST00000460038.5:n.390+1G>A
ENST00000461667.2:c.1485+1G>A	ENSP00000463605.2:n.1485+1G>A
ENST00000494653.5:n.1809+1G>A
ENST00000674544.1:c.1311+1G>A	ENSP00000502641.1:n.1311+1G>A
ENST00000674558.1:c.1485+1G>A	ENSP00000501829.1:n.1485+1G>A
ENST00000674623.1:c.1485+1G>A	ENSP00000501733.1:n.1485+1G>A
ENST00000674879.1:n.2421+1G>A
ENST00000674985.1:c.*343+1G>A	ENSP00000502482.1:n.*343+1G>A
ENST00000675108.1:c.*1401+1G>A	ENSP00000502131.1:n.*1401+1G>A
ENST00000675200.1:c.1311+1G>A	ENSP00000502512.1:n.1311+1G>A
ENST00000675334.1:n.1289+1G>A
ENST00000675375.1:c.1311+1G>A	ENSP00000502180.1:n.1311+1G>A
ENST00000675666.1:c.1485+1G>A	ENSP00000502548.1:n.1485+1G>A
ENST00000675677.1:c.1287+1G>A	ENSP00000501944.1:n.1287+1G>A
ENST00000675750.1:c.*814+1G>A	ENSP00000502342.1:n.*814+1G>A
ENST00000675966.1:n.3157+1G>A
ENST00000676009.1:c.1485+1G>A	ENSP00000502246.1:n.1485+1G>A
ENST00000676052.1:c.1503+1G>A	ENSP00000502793.1:n.1503+1G>A
XM_005244815.3:c.1593+1G>A	XP_005244872.1:n.1593+1G>A
XM_005244815.4:c.1593+1G>A	XP_005244872.1:n.1593+1G>A
XM_011542473.1:c.1611+1G>A	XP_011540775.1:n.1611+1G>A
XM_011542474.1:c.1503+1G>A	XP_011540776.1:n.1503+1G>A
XM_011542474.3:c.1503+1G>A	XP_011540776.1:n.1503+1G>A
XM_011542475.1:c.1437+1G>A	XP_011540777.1:n.1437+1G>A
XM_011542476.1:c.1413+1G>A	XP_011540778.1:n.1413+1G>A
XM_011542477.1:c.1239+1G>A	XP_011540779.1:n.1239+1G>A
XM_011542478.1:c.1611+1G>A	XP_011540780.1:n.1611+1G>A
XM_017002918.2:c.1311+1G>A	XP_016858407.1:n.1311+1G>A
XM_017002919.2:c.1287+1G>A	XP_016858408.1:n.1287+1G>A
XM_024451101.1:c.1611+1G>A	XP_024306869.1:n.1611+1G>A
XM_024451102.1:c.1437+1G>A	XP_024306870.1:n.1437+1G>A
XM_024451103.1:c.1419+1G>A	XP_024306871.1:n.1419+1G>A
XM_024451104.1:c.1413+1G>A	XP_024306872.1:n.1413+1G>A
XM_024451106.1:c.1239+1G>A	XP_024306874.1:n.1239+1G>A
XM_024451108.1:c.1611+1G>A	XP_024306876.1:n.1611+1G>A