Canonical Allele Identifier: CA3386557

Gene: CEP120

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.123349984C>T , CM000667.2:g.123349984C>T	GRCh38
NC_000005.9:g.122685678C>T , CM000667.1:g.122685678C>T	GRCh37
NC_000005.8:g.122713577C>T	NCBI36
NG_042125.1:g.78609G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000306467.10:c.2686G>A MANE Select	ENSP00000303058.6:p.Glu896Lys
ENST00000306481.11:c.2608G>A	ENSP00000307419.6:p.Glu870Lys
ENST00000328236.10:c.2686G>A	ENSP00000327504.5:p.Glu896Lys
ENST00000508442.7:c.2608G>A	ENSP00000421620.3:p.Glu870Lys
ENST00000674620.1:c.*2037G>A	ENSP00000501651.1:n.*2037G>A
ENST00000674667.1:c.*1347G>A	ENSP00000502819.1:n.*1347G>A
ENST00000674684.1:c.2686G>A	ENSP00000501697.1:p.Glu896Lys
ENST00000675003.1:n.3184G>A
ENST00000675104.1:c.*1347G>A	ENSP00000502078.1:n.*1347G>A
ENST00000675283.1:n.2521G>A
ENST00000675330.1:c.2551G>A	ENSP00000502634.1:p.Glu851Lys
ENST00000675442.1:c.2587G>A	ENSP00000502221.1:p.Glu863Lys
ENST00000675564.1:n.406G>A
ENST00000675686.1:c.*2582G>A	ENSP00000501801.1:n.*2582G>A
ENST00000675814.1:c.*2239G>A	ENSP00000502121.1:n.*2239G>A
ENST00000675852.1:n.4557G>A
ENST00000676068.1:n.1240G>A
ENST00000676384.1:n.2593G>A
ENST00000306467.9:c.2686G>A	ENSP00000303058.5:p.Glu896Lys
ENST00000306481.10:c.2608G>A	ENSP00000307419.6:p.Glu870Lys
ENST00000328236.9:c.2686G>A	ENSP00000327504.5:p.Glu896Lys
ENST00000508138.5:c.*2258G>A	ENSP00000422234.1:n.*2258G>A
ENST00000513565.6:c.*2090G>A	ENSP00000422089.2:n.*2090G>A
NM_001166226.1:c.2608G>A	NP_001159698.1:p.Glu870Lys
NM_153223.3:c.2686G>A	NP_694955.2:p.Glu896Lys
XM_005271901.3:c.2551G>A	XP_005271958.1:p.Glu851Lys
XM_011543185.1:c.2608G>A	XP_011541487.1:p.Glu870Lys
XM_011543186.1:c.1219G>A	XP_011541488.1:p.Glu407Lys
XM_005271901.5:c.2551G>A	XP_005271958.1:p.Glu851Lys
XM_011543185.2:c.2608G>A	XP_011541487.1:p.Glu870Lys
XM_011543186.2:c.1219G>A	XP_011541488.1:p.Glu407Lys
XM_017009085.1:c.1219G>A	XP_016864574.1:p.Glu407Lys
XM_024454370.1:c.2686G>A	XP_024310138.1:p.Glu896Lys
NM_001375405.1:c.2686G>A MANE Select	NP_001362334.1:p.Glu896Lys
NM_001375406.1:c.2551G>A	NP_001362335.1:p.Glu851Lys
NM_001375407.1:c.2686G>A	NP_001362336.1:p.Glu896Lys
NM_001375408.1:c.2113G>A	NP_001362337.1:p.Glu705Lys
NM_001375409.1:c.2113G>A	NP_001362338.1:p.Glu705Lys
NR_164685.1:n.3638G>A
NM_001166226.2:c.2608G>A	NP_001159698.1:p.Glu870Lys
NM_153223.4:c.2686G>A	NP_694955.2:p.Glu896Lys