Canonical Allele Identifier: CA551280

Gene: CEP104

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.3823423C>T , CM000663.2:g.3823423C>T	GRCh38
NC_000001.10:g.3739987C>T , CM000663.1:g.3739987C>T	GRCh37
NC_000001.9:g.3729847C>T	NCBI36
NG_046726.1:g.38811G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_014704.4:c.2503+1G>A MANE Select	NP_055519.1:n.2503+1G>A
ENST00000378230.8:c.2503+1G>A MANE Select	ENSP00000367476.3:n.2503+1G>A
NM_014704.3:c.2503+1G>A	NP_055519.1:n.2503+1G>A
ENST00000378230.7:c.2503+1G>A	ENSP00000367476.3:n.2503+1G>A
ENST00000428079.6:c.2503+1G>A	ENSP00000394989.2:n.2503+1G>A
ENST00000438539.5:c.393+1G>A
ENST00000438539.6:n.1550+1G>A
ENST00000461667.1:c.460+1G>A	ENSP00000463605.1:n.460+1G>A
ENST00000461667.2:c.2503+1G>A	ENSP00000463605.2:n.2503+1G>A
ENST00000674544.1:c.2329+1G>A	ENSP00000502641.1:n.2329+1G>A
ENST00000674558.1:c.2503+1G>A	ENSP00000501829.1:n.2503+1G>A
ENST00000674623.1:c.2503+1G>A	ENSP00000501733.1:n.2503+1G>A
ENST00000674879.1:n.3439+1G>A
ENST00000674985.1:c.*1361+1G>A	ENSP00000502482.1:n.*1361+1G>A
ENST00000675108.1:c.*2639+1G>A	ENSP00000502131.1:n.*2639+1G>A
ENST00000675200.1:c.*382+1G>A	ENSP00000502512.1:n.*382+1G>A
ENST00000675334.1:n.2307+1G>A
ENST00000675375.1:c.2329+1G>A	ENSP00000502180.1:n.2329+1G>A
ENST00000675666.1:c.2503+1G>A	ENSP00000502548.1:n.2503+1G>A
ENST00000675677.1:c.2305+1G>A	ENSP00000501944.1:n.2305+1G>A
ENST00000675750.1:c.*1832+1G>A	ENSP00000502342.1:n.*1832+1G>A
ENST00000675966.1:n.4175+1G>A
ENST00000676009.1:c.*252+1G>A	ENSP00000502246.1:n.*252+1G>A
ENST00000676052.1:c.2521+1G>A	ENSP00000502793.1:n.2521+1G>A
XM_005244815.3:c.2611+1G>A	XP_005244872.1:n.2611+1G>A
XM_005244815.4:c.2611+1G>A	XP_005244872.1:n.2611+1G>A
XM_011542473.1:c.2629+1G>A	XP_011540775.1:n.2629+1G>A
XM_011542474.1:c.2521+1G>A	XP_011540776.1:n.2521+1G>A
XM_011542474.3:c.2521+1G>A	XP_011540776.1:n.2521+1G>A
XM_011542475.1:c.2455+1G>A	XP_011540777.1:n.2455+1G>A
XM_011542476.1:c.2431+1G>A	XP_011540778.1:n.2431+1G>A
XM_011542477.1:c.2257+1G>A	XP_011540779.1:n.2257+1G>A
XM_017002918.2:c.2329+1G>A	XP_016858407.1:n.2329+1G>A
XM_017002919.2:c.2305+1G>A	XP_016858408.1:n.2305+1G>A
XM_024451101.1:c.2629+1G>A	XP_024306869.1:n.2629+1G>A
XM_024451102.1:c.2455+1G>A	XP_024306870.1:n.2455+1G>A
XM_024451103.1:c.2437+1G>A	XP_024306871.1:n.2437+1G>A
XM_024451104.1:c.2431+1G>A	XP_024306872.1:n.2431+1G>A
XM_024451106.1:c.2257+1G>A	XP_024306874.1:n.2257+1G>A