Canonical Allele Identifier: CA551559

Gene: CEP104

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.3833890A>T , CM000663.2:g.3833890A>T	GRCh38
NC_000001.10:g.3750454A>T , CM000663.1:g.3750454A>T	GRCh37
NC_000001.9:g.3740314A>T	NCBI36
NG_046726.1:g.28344T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378230.8:c.1631T>A MANE Select	ENSP00000367476.3:p.Leu544His
ENST00000428079.6:c.1631T>A	ENSP00000394989.2:p.Leu544His
ENST00000438539.6:n.678T>A
ENST00000461667.2:c.1631T>A	ENSP00000463605.2:p.Leu544His
ENST00000674544.1:c.1457T>A	ENSP00000502641.1:p.Leu486His
ENST00000674558.1:c.1631T>A	ENSP00000501829.1:p.Leu544His
ENST00000674623.1:c.1631T>A	ENSP00000501733.1:p.Leu544His
ENST00000674879.1:n.2567T>A
ENST00000674985.1:c.*489T>A	ENSP00000502482.1:n.*489T>A
ENST00000675108.1:c.*1547T>A	ENSP00000502131.1:n.*1547T>A
ENST00000675200.1:c.1457T>A	ENSP00000502512.1:p.Leu486His
ENST00000675334.1:n.1435T>A
ENST00000675375.1:c.1457T>A	ENSP00000502180.1:p.Leu486His
ENST00000675666.1:c.1631T>A	ENSP00000502548.1:p.Leu544His
ENST00000675677.1:c.1433T>A	ENSP00000501944.1:p.Leu478His
ENST00000675750.1:c.*960T>A	ENSP00000502342.1:n.*960T>A
ENST00000675966.1:n.3303T>A
ENST00000676009.1:c.1631T>A	ENSP00000502246.1:p.Leu544His
ENST00000676052.1:c.1649T>A	ENSP00000502793.1:p.Leu550His
ENST00000378230.7:c.1631T>A	ENSP00000367476.3:p.Leu544His
ENST00000460038.5:n.536T>A
ENST00000494653.5:n.1955T>A
NM_014704.3:c.1631T>A	NP_055519.1:p.Leu544His
XM_005244815.3:c.1739T>A	XP_005244872.1:p.Leu580His
XM_011542473.1:c.1757T>A	XP_011540775.1:p.Leu586His
XM_011542474.1:c.1649T>A	XP_011540776.1:p.Leu550His
XM_011542475.1:c.1583T>A	XP_011540777.1:p.Leu528His
XM_011542476.1:c.1559T>A	XP_011540778.1:p.Leu520His
XM_011542477.1:c.1385T>A	XP_011540779.1:p.Leu462His
XM_011542478.1:c.1757T>A	XP_011540780.1:p.Leu586His
XM_005244815.4:c.1739T>A	XP_005244872.1:p.Leu580His
XM_011542474.3:c.1649T>A	XP_011540776.1:p.Leu550His
XM_017002918.2:c.1457T>A	XP_016858407.1:p.Leu486His
XM_017002919.2:c.1433T>A	XP_016858408.1:p.Leu478His
XM_024451101.1:c.1757T>A	XP_024306869.1:p.Leu586His
XM_024451102.1:c.1583T>A	XP_024306870.1:p.Leu528His
XM_024451103.1:c.1565T>A	XP_024306871.1:p.Leu522His
XM_024451104.1:c.1559T>A	XP_024306872.1:p.Leu520His
XM_024451106.1:c.1385T>A	XP_024306874.1:p.Leu462His
XM_024451108.1:c.1757T>A	XP_024306876.1:p.Leu586His
NM_014704.4:c.1631T>A MANE Select	NP_055519.1:p.Leu544His