Canonical Allele Identifier: CA446071937

Gene: CEP120

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.123416118C>T , CM000667.2:g.123416118C>T	GRCh38
NC_000005.9:g.122751812C>T , CM000667.1:g.122751812C>T	GRCh37
NC_000005.8:g.122779711C>T	NCBI36
NG_042125.1:g.12475G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001375405.1:c.213G>A MANE Select	NP_001362334.1:p.Gln71=
ENST00000306467.10:c.213G>A MANE Select	ENSP00000303058.6:p.Gln71=
NM_001166226.1:c.135G>A	NP_001159698.1:p.Gln45=
NM_001166226.2:c.135G>A	NP_001159698.1:p.Gln45=
NM_001375406.1:c.213G>A	NP_001362335.1:p.Gln71=
NM_001375407.1:c.213G>A	NP_001362336.1:p.Gln71=
NM_001375408.1:c.-536G>A	NP_001362337.1:n.-536G>A
NM_001375409.1:c.-478G>A	NP_001362338.1:n.-478G>A
NM_153223.3:c.213G>A	NP_694955.2:p.Gln71=
NM_153223.4:c.213G>A	NP_694955.2:p.Gln71=
NR_164685.1:n.618G>A
ENST00000306467.9:c.213G>A	ENSP00000303058.5:p.Gln71=
ENST00000306481.10:c.135G>A	ENSP00000307419.6:p.Gln45=
ENST00000306481.11:c.135G>A	ENSP00000307419.6:p.Gln45=
ENST00000328236.10:c.213G>A	ENSP00000327504.5:p.Gln71=
ENST00000328236.9:c.213G>A	ENSP00000327504.5:p.Gln71=
ENST00000503049.2:n.268G>A
ENST00000508138.5:c.213G>A	ENSP00000422234.1:p.Gln71=
ENST00000508442.6:c.135G>A	ENSP00000421620.2:p.Gln45=
ENST00000508442.7:c.135G>A	ENSP00000421620.3:p.Gln45=
ENST00000510582.3:c.213G>A	ENSP00000422382.3:p.Gln71=
ENST00000513565.6:c.213G>A	ENSP00000422089.2:p.Gln71=
ENST00000674620.1:c.213G>A	ENSP00000501651.1:p.Gln71=
ENST00000674667.1:c.213G>A	ENSP00000502819.1:p.Gln71=
ENST00000674684.1:c.213G>A	ENSP00000501697.1:p.Gln71=
ENST00000675104.1:c.213G>A	ENSP00000502078.1:p.Gln71=
ENST00000675330.1:c.213G>A	ENSP00000502634.1:p.Gln71=
ENST00000675409.1:n.663G>A
ENST00000675442.1:c.135G>A	ENSP00000502221.1:p.Gln45=
ENST00000675444.1:n.636G>A
ENST00000675686.1:c.*109G>A	ENSP00000501801.1:n.*109G>A
ENST00000675814.1:c.213G>A	ENSP00000502121.1:p.Gln71=
XM_005271901.3:c.213G>A	XP_005271958.1:p.Gln71=
XM_005271901.5:c.213G>A	XP_005271958.1:p.Gln71=
XM_011543185.1:c.135G>A	XP_011541487.1:p.Gln45=
XM_011543185.2:c.135G>A	XP_011541487.1:p.Gln45=
XM_024454370.1:c.213G>A	XP_024310138.1:p.Gln71=