Canonical Allele Identifier: CA3386725

Gene: CEP120

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.123378350T>C , CM000667.2:g.123378350T>C	GRCh38
NC_000005.9:g.122714044T>C , CM000667.1:g.122714044T>C	GRCh37
NC_000005.8:g.122741943T>C	NCBI36
NG_042125.1:g.50243A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001375405.1:c.2182A>G MANE Select	NP_001362334.1:p.Ser728Gly
ENST00000306467.10:c.2182A>G MANE Select	ENSP00000303058.6:p.Ser728Gly
NM_001166226.1:c.2104A>G	NP_001159698.1:p.Ser702Gly
NM_001166226.2:c.2104A>G	NP_001159698.1:p.Ser702Gly
NM_001375406.1:c.2047A>G	NP_001362335.1:p.Ser683Gly
NM_001375407.1:c.2182A>G	NP_001362336.1:p.Ser728Gly
NM_001375408.1:c.1609A>G	NP_001362337.1:p.Ser537Gly
NM_001375409.1:c.1609A>G	NP_001362338.1:p.Ser537Gly
NM_153223.3:c.2182A>G	NP_694955.2:p.Ser728Gly
NM_153223.4:c.2182A>G	NP_694955.2:p.Ser728Gly
NR_164685.1:n.2940A>G
ENST00000306467.9:c.2182A>G	ENSP00000303058.5:p.Ser728Gly
ENST00000306481.10:c.2104A>G	ENSP00000307419.6:p.Ser702Gly
ENST00000306481.11:c.2104A>G	ENSP00000307419.6:p.Ser702Gly
ENST00000328236.10:c.2182A>G	ENSP00000327504.5:p.Ser728Gly
ENST00000328236.9:c.2182A>G	ENSP00000327504.5:p.Ser728Gly
ENST00000508138.5:c.*1754A>G	ENSP00000422234.1:n.*1754A>G
ENST00000508442.6:c.2104A>G	ENSP00000421620.2:p.Ser702Gly
ENST00000508442.7:c.2104A>G	ENSP00000421620.3:p.Ser702Gly
ENST00000513565.6:c.*1392A>G	ENSP00000422089.2:n.*1392A>G
ENST00000674620.1:c.*1533A>G	ENSP00000501651.1:n.*1533A>G
ENST00000674667.1:c.*843A>G	ENSP00000502819.1:n.*843A>G
ENST00000674684.1:c.2182A>G	ENSP00000501697.1:p.Ser728Gly
ENST00000675003.1:n.2680A>G
ENST00000675104.1:c.*843A>G	ENSP00000502078.1:n.*843A>G
ENST00000675283.1:n.2017A>G
ENST00000675330.1:c.2047A>G	ENSP00000502634.1:p.Ser683Gly
ENST00000675442.1:c.2104A>G	ENSP00000502221.1:p.Ser702Gly
ENST00000675444.1:n.2605A>G
ENST00000675686.1:c.*2078A>G	ENSP00000501801.1:n.*2078A>G
ENST00000675814.1:c.*1735A>G	ENSP00000502121.1:n.*1735A>G
ENST00000675852.1:n.4053A>G
ENST00000676068.1:n.736A>G
XM_005271901.3:c.2047A>G	XP_005271958.1:p.Ser683Gly
XM_005271901.5:c.2047A>G	XP_005271958.1:p.Ser683Gly
XM_011543185.1:c.2104A>G	XP_011541487.1:p.Ser702Gly
XM_011543185.2:c.2104A>G	XP_011541487.1:p.Ser702Gly
XM_011543186.1:c.715A>G	XP_011541488.1:p.Ser239Gly
XM_011543186.2:c.715A>G	XP_011541488.1:p.Ser239Gly
XM_017009085.1:c.715A>G	XP_016864574.1:p.Ser239Gly
XM_024454370.1:c.2182A>G	XP_024310138.1:p.Ser728Gly