Canonical Allele Identifier: CA551425

Gene: CEP104

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.3829360G>A , CM000663.2:g.3829360G>A	GRCh38
NC_000001.10:g.3745924G>A , CM000663.1:g.3745924G>A	GRCh37
NC_000001.9:g.3735784G>A	NCBI36
NG_046726.1:g.32874C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378230.8:c.2057C>T MANE Select	ENSP00000367476.3:p.Ala686Val
ENST00000428079.6:c.2057C>T	ENSP00000394989.2:p.Ala686Val
ENST00000438539.6:n.1104C>T
ENST00000461667.2:c.2057C>T	ENSP00000463605.2:p.Ala686Val
ENST00000674544.1:c.1883C>T	ENSP00000502641.1:p.Ala628Val
ENST00000674558.1:c.2057C>T	ENSP00000501829.1:p.Ala686Val
ENST00000674623.1:c.2057C>T	ENSP00000501733.1:p.Ala686Val
ENST00000674879.1:n.2993C>T
ENST00000674985.1:c.*915C>T	ENSP00000502482.1:n.*915C>T
ENST00000675108.1:c.*1973C>T	ENSP00000502131.1:n.*1973C>T
ENST00000675200.1:c.1883C>T	ENSP00000502512.1:p.Ala628Val
ENST00000675334.1:n.1861C>T
ENST00000675375.1:c.1883C>T	ENSP00000502180.1:p.Ala628Val
ENST00000675666.1:c.2057C>T	ENSP00000502548.1:p.Ala686Val
ENST00000675677.1:c.1859C>T	ENSP00000501944.1:p.Ala620Val
ENST00000675750.1:c.*1386C>T	ENSP00000502342.1:n.*1386C>T
ENST00000675966.1:n.3729C>T
ENST00000676009.1:c.2057C>T	ENSP00000502246.1:p.Ala686Val
ENST00000676052.1:c.2075C>T	ENSP00000502793.1:p.Ala692Val
ENST00000378230.7:c.2057C>T	ENSP00000367476.3:p.Ala686Val
ENST00000461667.1:c.14C>T	ENSP00000463605.1:p.Ala5Val
NM_014704.3:c.2057C>T	NP_055519.1:p.Ala686Val
XM_005244815.3:c.2165C>T	XP_005244872.1:p.Ala722Val
XM_011542473.1:c.2183C>T	XP_011540775.1:p.Ala728Val
XM_011542474.1:c.2075C>T	XP_011540776.1:p.Ala692Val
XM_011542475.1:c.2009C>T	XP_011540777.1:p.Ala670Val
XM_011542476.1:c.1985C>T	XP_011540778.1:p.Ala662Val
XM_011542477.1:c.1811C>T	XP_011540779.1:p.Ala604Val
XM_011542478.1:c.2183C>T	XP_011540780.1:p.Ala728Val
XM_005244815.4:c.2165C>T	XP_005244872.1:p.Ala722Val
XM_011542474.3:c.2075C>T	XP_011540776.1:p.Ala692Val
XM_017002918.2:c.1883C>T	XP_016858407.1:p.Ala628Val
XM_017002919.2:c.1859C>T	XP_016858408.1:p.Ala620Val
XM_024451101.1:c.2183C>T	XP_024306869.1:p.Ala728Val
XM_024451102.1:c.2009C>T	XP_024306870.1:p.Ala670Val
XM_024451103.1:c.1991C>T	XP_024306871.1:p.Ala664Val
XM_024451104.1:c.1985C>T	XP_024306872.1:p.Ala662Val
XM_024451106.1:c.1811C>T	XP_024306874.1:p.Ala604Val
XM_024451108.1:c.2183C>T	XP_024306876.1:p.Ala728Val
NM_014704.4:c.2057C>T MANE Select	NP_055519.1:p.Ala686Val