Canonical Allele Identifier: CA360897902

Gene: CEP120

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.123372713G>T , CM000667.2:g.123372713G>T	GRCh38
NC_000005.9:g.122708407G>T , CM000667.1:g.122708407G>T	GRCh37
NC_000005.8:g.122736306G>T	NCBI36
NG_042125.1:g.55880C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001375405.1:c.2418C>A MANE Select	NP_001362334.1:p.Asp806Glu
ENST00000306467.10:c.2418C>A MANE Select	ENSP00000303058.6:p.Asp806Glu
NM_001166226.1:c.2340C>A	NP_001159698.1:p.Asp780Glu
NM_001166226.2:c.2340C>A	NP_001159698.1:p.Asp780Glu
NM_001375406.1:c.2283C>A	NP_001362335.1:p.Asp761Glu
NM_001375407.1:c.2418C>A	NP_001362336.1:p.Asp806Glu
NM_001375408.1:c.1845C>A	NP_001362337.1:p.Asp615Glu
NM_001375409.1:c.1845C>A	NP_001362338.1:p.Asp615Glu
NM_153223.3:c.2418C>A	NP_694955.2:p.Asp806Glu
NM_153223.4:c.2418C>A	NP_694955.2:p.Asp806Glu
NR_164685.1:n.3176C>A
ENST00000306467.9:c.2418C>A	ENSP00000303058.5:p.Asp806Glu
ENST00000306481.10:c.2340C>A	ENSP00000307419.6:p.Asp780Glu
ENST00000306481.11:c.2340C>A	ENSP00000307419.6:p.Asp780Glu
ENST00000328236.10:c.2418C>A	ENSP00000327504.5:p.Asp806Glu
ENST00000328236.9:c.2418C>A	ENSP00000327504.5:p.Asp806Glu
ENST00000508138.5:c.*1990C>A	ENSP00000422234.1:n.*1990C>A
ENST00000508442.6:c.2340C>A	ENSP00000421620.2:p.Asp780Glu
ENST00000508442.7:c.2340C>A	ENSP00000421620.3:p.Asp780Glu
ENST00000513565.6:c.*1628C>A	ENSP00000422089.2:n.*1628C>A
ENST00000674620.1:c.*1769C>A	ENSP00000501651.1:n.*1769C>A
ENST00000674667.1:c.*1079C>A	ENSP00000502819.1:n.*1079C>A
ENST00000674684.1:c.2418C>A	ENSP00000501697.1:p.Asp806Glu
ENST00000675003.1:n.2916C>A
ENST00000675104.1:c.*1079C>A	ENSP00000502078.1:n.*1079C>A
ENST00000675283.1:n.2253C>A
ENST00000675330.1:c.2283C>A	ENSP00000502634.1:p.Asp761Glu
ENST00000675442.1:c.2319C>A	ENSP00000502221.1:p.Asp773Glu
ENST00000675444.1:n.2841C>A
ENST00000675686.1:c.*2314C>A	ENSP00000501801.1:n.*2314C>A
ENST00000675814.1:c.*1971C>A	ENSP00000502121.1:n.*1971C>A
ENST00000675852.1:n.4289C>A
ENST00000676068.1:n.972C>A
XM_005271901.3:c.2283C>A	XP_005271958.1:p.Asp761Glu
XM_005271901.5:c.2283C>A	XP_005271958.1:p.Asp761Glu
XM_011543185.1:c.2340C>A	XP_011541487.1:p.Asp780Glu
XM_011543185.2:c.2340C>A	XP_011541487.1:p.Asp780Glu
XM_011543186.1:c.951C>A	XP_011541488.1:p.Asp317Glu
XM_011543186.2:c.951C>A	XP_011541488.1:p.Asp317Glu
XM_017009085.1:c.951C>A	XP_016864574.1:p.Asp317Glu
XM_024454370.1:c.2418C>A	XP_024310138.1:p.Asp806Glu