Canonical Allele Identifier: CA551220

Gene: CEP104

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.3816321C>T , CM000663.2:g.3816321C>T	GRCh38
NC_000001.10:g.3732885C>T , CM000663.1:g.3732885C>T	GRCh37
NC_000001.9:g.3722745C>T	NCBI36
NG_046726.1:g.45913G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378230.8:c.2621G>A MANE Select	ENSP00000367476.3:p.Arg874His
ENST00000428079.6:c.2621G>A	ENSP00000394989.2:p.Arg874His
ENST00000674544.1:c.2447G>A	ENSP00000502641.1:p.Arg816His
ENST00000674558.1:c.2621G>A	ENSP00000501829.1:p.Arg874His
ENST00000674623.1:c.2621G>A	ENSP00000501733.1:p.Arg874His
ENST00000674879.1:n.3557G>A
ENST00000674985.1:c.*1479G>A	ENSP00000502482.1:n.*1479G>A
ENST00000675108.1:c.*2689G>A	ENSP00000502131.1:n.*2689G>A
ENST00000675200.1:c.*500G>A	ENSP00000502512.1:n.*500G>A
ENST00000675334.1:n.2425G>A
ENST00000675375.1:c.2447G>A	ENSP00000502180.1:p.Arg816His
ENST00000675666.1:c.2553G>A	ENSP00000502548.1:p.Ala851=
ENST00000675677.1:c.2423G>A	ENSP00000501944.1:p.Arg808His
ENST00000675750.1:c.*1950G>A	ENSP00000502342.1:n.*1950G>A
ENST00000675966.1:n.4293G>A
ENST00000676009.1:c.*370G>A	ENSP00000502246.1:n.*370G>A
ENST00000676052.1:c.2639G>A	ENSP00000502793.1:p.Arg880His
ENST00000378230.7:c.2621G>A	ENSP00000367476.3:p.Arg874His
ENST00000438539.5:c.511G>A
ENST00000484420.1:n.138G>A
NM_014704.3:c.2621G>A	NP_055519.1:p.Arg874His
XM_005244815.3:c.2729G>A	XP_005244872.1:p.Arg910His
XM_011542473.1:c.2747G>A	XP_011540775.1:p.Arg916His
XM_011542474.1:c.2639G>A	XP_011540776.1:p.Arg880His
XM_011542475.1:c.2573G>A	XP_011540777.1:p.Arg858His
XM_011542476.1:c.2549G>A	XP_011540778.1:p.Arg850His
XM_011542477.1:c.2375G>A	XP_011540779.1:p.Arg792His
XM_005244815.4:c.2729G>A	XP_005244872.1:p.Arg910His
XM_011542474.3:c.2639G>A	XP_011540776.1:p.Arg880His
XM_017002918.2:c.2447G>A	XP_016858407.1:p.Arg816His
XM_017002919.2:c.2423G>A	XP_016858408.1:p.Arg808His
XM_024451101.1:c.2747G>A	XP_024306869.1:p.Arg916His
XM_024451102.1:c.2573G>A	XP_024306870.1:p.Arg858His
XM_024451103.1:c.2555G>A	XP_024306871.1:p.Arg852His
XM_024451104.1:c.2549G>A	XP_024306872.1:p.Arg850His
XM_024451106.1:c.2375G>A	XP_024306874.1:p.Arg792His
NM_014704.4:c.2621G>A MANE Select	NP_055519.1:p.Arg874His