Canonical Allele Identifier: CA551223

Gene: CEP104

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.3816341G>A , CM000663.2:g.3816341G>A	GRCh38
NC_000001.10:g.3732905G>A , CM000663.1:g.3732905G>A	GRCh37
NC_000001.9:g.3722765G>A	NCBI36
NG_046726.1:g.45893C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378230.8:c.2601C>T MANE Select	ENSP00000367476.3:p.Ala867=
ENST00000428079.6:c.2601C>T	ENSP00000394989.2:p.Ala867=
ENST00000438539.6:n.1648C>T
ENST00000674544.1:c.2427C>T	ENSP00000502641.1:p.Ala809=
ENST00000674558.1:c.2601C>T	ENSP00000501829.1:p.Ala867=
ENST00000674623.1:c.2601C>T	ENSP00000501733.1:p.Ala867=
ENST00000674879.1:n.3537C>T
ENST00000674985.1:c.*1459C>T	ENSP00000502482.1:n.*1459C>T
ENST00000675108.1:c.*2669C>T	ENSP00000502131.1:n.*2669C>T
ENST00000675200.1:c.*480C>T	ENSP00000502512.1:n.*480C>T
ENST00000675334.1:n.2405C>T
ENST00000675375.1:c.2427C>T	ENSP00000502180.1:p.Ala809=
ENST00000675666.1:c.2533C>T	ENSP00000502548.1:p.Arg845Trp
ENST00000675677.1:c.2403C>T	ENSP00000501944.1:p.Ala801=
ENST00000675750.1:c.*1930C>T	ENSP00000502342.1:n.*1930C>T
ENST00000675966.1:n.4273C>T
ENST00000676009.1:c.*350C>T	ENSP00000502246.1:n.*350C>T
ENST00000676052.1:c.2619C>T	ENSP00000502793.1:p.Ala873=
ENST00000378230.7:c.2601C>T	ENSP00000367476.3:p.Ala867=
ENST00000438539.5:c.491C>T
ENST00000484420.1:n.118C>T
NM_014704.3:c.2601C>T	NP_055519.1:p.Ala867=
XM_005244815.3:c.2709C>T	XP_005244872.1:p.Ala903=
XM_011542473.1:c.2727C>T	XP_011540775.1:p.Ala909=
XM_011542474.1:c.2619C>T	XP_011540776.1:p.Ala873=
XM_011542475.1:c.2553C>T	XP_011540777.1:p.Ala851=
XM_011542476.1:c.2529C>T	XP_011540778.1:p.Ala843=
XM_011542477.1:c.2355C>T	XP_011540779.1:p.Ala785=
XM_005244815.4:c.2709C>T	XP_005244872.1:p.Ala903=
XM_011542474.3:c.2619C>T	XP_011540776.1:p.Ala873=
XM_017002918.2:c.2427C>T	XP_016858407.1:p.Ala809=
XM_017002919.2:c.2403C>T	XP_016858408.1:p.Ala801=
XM_024451101.1:c.2727C>T	XP_024306869.1:p.Ala909=
XM_024451102.1:c.2553C>T	XP_024306870.1:p.Ala851=
XM_024451103.1:c.2535C>T	XP_024306871.1:p.Ala845=
XM_024451104.1:c.2529C>T	XP_024306872.1:p.Ala843=
XM_024451106.1:c.2355C>T	XP_024306874.1:p.Ala785=
NM_014704.4:c.2601C>T MANE Select	NP_055519.1:p.Ala867=