Canonical Allele Identifier: CA3386574

Gene: CEP120

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.123350064C>T , CM000667.2:g.123350064C>T	GRCh38
NC_000005.9:g.122685758C>T , CM000667.1:g.122685758C>T	GRCh37
NC_000005.8:g.122713657C>T	NCBI36
NG_042125.1:g.78529G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001375405.1:c.2606G>A MANE Select	NP_001362334.1:p.Arg869His
ENST00000306467.10:c.2606G>A MANE Select	ENSP00000303058.6:p.Arg869His
NM_001166226.1:c.2528G>A	NP_001159698.1:p.Arg843His
NM_001166226.2:c.2528G>A	NP_001159698.1:p.Arg843His
NM_001375406.1:c.2471G>A	NP_001362335.1:p.Arg824His
NM_001375407.1:c.2606G>A	NP_001362336.1:p.Arg869His
NM_001375408.1:c.2033G>A	NP_001362337.1:p.Arg678His
NM_001375409.1:c.2033G>A	NP_001362338.1:p.Arg678His
NM_153223.3:c.2606G>A	NP_694955.2:p.Arg869His
NM_153223.4:c.2606G>A	NP_694955.2:p.Arg869His
NR_164685.1:n.3558G>A
ENST00000306467.9:c.2606G>A	ENSP00000303058.5:p.Arg869His
ENST00000306481.10:c.2528G>A	ENSP00000307419.6:p.Arg843His
ENST00000306481.11:c.2528G>A	ENSP00000307419.6:p.Arg843His
ENST00000328236.10:c.2606G>A	ENSP00000327504.5:p.Arg869His
ENST00000328236.9:c.2606G>A	ENSP00000327504.5:p.Arg869His
ENST00000508138.5:c.*2178G>A	ENSP00000422234.1:n.*2178G>A
ENST00000508442.6:c.2528G>A	ENSP00000421620.2:p.Arg843His
ENST00000508442.7:c.2528G>A	ENSP00000421620.3:p.Arg843His
ENST00000513565.6:c.*2010G>A	ENSP00000422089.2:n.*2010G>A
ENST00000674620.1:c.*1957G>A	ENSP00000501651.1:n.*1957G>A
ENST00000674667.1:c.*1267G>A	ENSP00000502819.1:n.*1267G>A
ENST00000674684.1:c.2606G>A	ENSP00000501697.1:p.Arg869His
ENST00000675003.1:n.3104G>A
ENST00000675104.1:c.*1267G>A	ENSP00000502078.1:n.*1267G>A
ENST00000675283.1:n.2441G>A
ENST00000675330.1:c.2471G>A	ENSP00000502634.1:p.Arg824His
ENST00000675442.1:c.2507G>A	ENSP00000502221.1:p.Arg836His
ENST00000675564.1:n.326G>A
ENST00000675686.1:c.*2502G>A	ENSP00000501801.1:n.*2502G>A
ENST00000675814.1:c.*2159G>A	ENSP00000502121.1:n.*2159G>A
ENST00000675852.1:n.4477G>A
ENST00000676068.1:n.1160G>A
ENST00000676384.1:n.2513G>A
XM_005271901.3:c.2471G>A	XP_005271958.1:p.Arg824His
XM_005271901.5:c.2471G>A	XP_005271958.1:p.Arg824His
XM_011543185.1:c.2528G>A	XP_011541487.1:p.Arg843His
XM_011543185.2:c.2528G>A	XP_011541487.1:p.Arg843His
XM_011543186.1:c.1139G>A	XP_011541488.1:p.Arg380His
XM_011543186.2:c.1139G>A	XP_011541488.1:p.Arg380His
XM_017009085.1:c.1139G>A	XP_016864574.1:p.Arg380His
XM_024454370.1:c.2606G>A	XP_024310138.1:p.Arg869His