Canonical Allele Identifier: CA551403

Gene: CEP104

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.3829251G>A , CM000663.2:g.3829251G>A	GRCh38
NC_000001.10:g.3745815G>A , CM000663.1:g.3745815G>A	GRCh37
NC_000001.9:g.3735675G>A	NCBI36
NG_046726.1:g.32983C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_014704.4:c.2151+15C>T MANE Select	NP_055519.1:n.2151+15C>T
ENST00000378230.8:c.2151+15C>T MANE Select	ENSP00000367476.3:n.2151+15C>T
NM_014704.3:c.2151+15C>T	NP_055519.1:n.2151+15C>T
ENST00000378230.7:c.2151+15C>T	ENSP00000367476.3:n.2151+15C>T
ENST00000428079.6:c.2151+15C>T	ENSP00000394989.2:n.2151+15C>T
ENST00000438539.5:c.41+15C>T
ENST00000438539.6:n.1198+15C>T
ENST00000461667.1:c.108+15C>T	ENSP00000463605.1:n.108+15C>T
ENST00000461667.2:c.2151+15C>T	ENSP00000463605.2:n.2151+15C>T
ENST00000674544.1:c.1977+15C>T	ENSP00000502641.1:n.1977+15C>T
ENST00000674558.1:c.2151+15C>T	ENSP00000501829.1:n.2151+15C>T
ENST00000674623.1:c.2151+15C>T	ENSP00000501733.1:n.2151+15C>T
ENST00000674879.1:n.3087+15C>T
ENST00000674985.1:c.*1009+15C>T	ENSP00000502482.1:n.*1009+15C>T
ENST00000675108.1:c.*2082C>T	ENSP00000502131.1:n.*2082C>T
ENST00000675200.1:c.1977+15C>T	ENSP00000502512.1:n.1977+15C>T
ENST00000675334.1:n.1955+15C>T
ENST00000675375.1:c.1977+15C>T	ENSP00000502180.1:n.1977+15C>T
ENST00000675666.1:c.2151+15C>T	ENSP00000502548.1:n.2151+15C>T
ENST00000675677.1:c.1953+15C>T	ENSP00000501944.1:n.1953+15C>T
ENST00000675750.1:c.*1480+15C>T	ENSP00000502342.1:n.*1480+15C>T
ENST00000675966.1:n.3823+15C>T
ENST00000676009.1:c.2151+15C>T	ENSP00000502246.1:n.2151+15C>T
ENST00000676052.1:c.2169+15C>T	ENSP00000502793.1:n.2169+15C>T
XM_005244815.3:c.2259+15C>T	XP_005244872.1:n.2259+15C>T
XM_005244815.4:c.2259+15C>T	XP_005244872.1:n.2259+15C>T
XM_011542473.1:c.2277+15C>T	XP_011540775.1:n.2277+15C>T
XM_011542474.1:c.2169+15C>T	XP_011540776.1:n.2169+15C>T
XM_011542474.3:c.2169+15C>T	XP_011540776.1:n.2169+15C>T
XM_011542475.1:c.2103+15C>T	XP_011540777.1:n.2103+15C>T
XM_011542476.1:c.2079+15C>T	XP_011540778.1:n.2079+15C>T
XM_011542477.1:c.1905+15C>T	XP_011540779.1:n.1905+15C>T
XM_011542478.1:c.2277+15C>T	XP_011540780.1:n.2277+15C>T
XM_017002918.2:c.1977+15C>T	XP_016858407.1:n.1977+15C>T
XM_017002919.2:c.1953+15C>T	XP_016858408.1:n.1953+15C>T
XM_024451101.1:c.2277+15C>T	XP_024306869.1:n.2277+15C>T
XM_024451102.1:c.2103+15C>T	XP_024306870.1:n.2103+15C>T
XM_024451103.1:c.2085+15C>T	XP_024306871.1:n.2085+15C>T
XM_024451104.1:c.2079+15C>T	XP_024306872.1:n.2079+15C>T
XM_024451106.1:c.1905+15C>T	XP_024306874.1:n.1905+15C>T
XM_024451108.1:c.2277+15C>T	XP_024306876.1:n.2277+15C>T