Canonical Allele Identifier: CA3386551

Gene: CEP120

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.123349963T>C , CM000667.2:g.123349963T>C	GRCh38
NC_000005.9:g.122685657T>C , CM000667.1:g.122685657T>C	GRCh37
NC_000005.8:g.122713556T>C	NCBI36
NG_042125.1:g.78630A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000306467.10:c.2707A>G MANE Select	ENSP00000303058.6:p.Ile903Val
ENST00000306481.11:c.2629A>G	ENSP00000307419.6:p.Ile877Val
ENST00000328236.10:c.2707A>G	ENSP00000327504.5:p.Ile903Val
ENST00000508442.7:c.2629A>G	ENSP00000421620.3:p.Ile877Val
ENST00000674620.1:c.*2058A>G	ENSP00000501651.1:n.*2058A>G
ENST00000674667.1:c.*1368A>G	ENSP00000502819.1:n.*1368A>G
ENST00000674684.1:c.2707A>G	ENSP00000501697.1:p.Ile903Val
ENST00000675003.1:n.3205A>G
ENST00000675104.1:c.*1368A>G	ENSP00000502078.1:n.*1368A>G
ENST00000675283.1:n.2542A>G
ENST00000675330.1:c.2572A>G	ENSP00000502634.1:p.Ile858Val
ENST00000675442.1:c.2608A>G	ENSP00000502221.1:p.Ile870Val
ENST00000675564.1:n.427A>G
ENST00000675686.1:c.*2603A>G	ENSP00000501801.1:n.*2603A>G
ENST00000675814.1:c.*2260A>G	ENSP00000502121.1:n.*2260A>G
ENST00000675852.1:n.4578A>G
ENST00000676068.1:n.1261A>G
ENST00000676384.1:n.2614A>G
ENST00000306467.9:c.2707A>G	ENSP00000303058.5:p.Ile903Val
ENST00000306481.10:c.2629A>G	ENSP00000307419.6:p.Ile877Val
ENST00000328236.9:c.2707A>G	ENSP00000327504.5:p.Ile903Val
ENST00000508138.5:c.*2279A>G	ENSP00000422234.1:n.*2279A>G
ENST00000513565.6:c.*2111A>G	ENSP00000422089.2:n.*2111A>G
NM_001166226.1:c.2629A>G	NP_001159698.1:p.Ile877Val
NM_153223.3:c.2707A>G	NP_694955.2:p.Ile903Val
XM_005271901.3:c.2572A>G	XP_005271958.1:p.Ile858Val
XM_011543185.1:c.2629A>G	XP_011541487.1:p.Ile877Val
XM_011543186.1:c.1240A>G	XP_011541488.1:p.Ile414Val
XM_005271901.5:c.2572A>G	XP_005271958.1:p.Ile858Val
XM_011543185.2:c.2629A>G	XP_011541487.1:p.Ile877Val
XM_011543186.2:c.1240A>G	XP_011541488.1:p.Ile414Val
XM_017009085.1:c.1240A>G	XP_016864574.1:p.Ile414Val
XM_024454370.1:c.2707A>G	XP_024310138.1:p.Ile903Val
NM_001375405.1:c.2707A>G MANE Select	NP_001362334.1:p.Ile903Val
NM_001375406.1:c.2572A>G	NP_001362335.1:p.Ile858Val
NM_001375407.1:c.2707A>G	NP_001362336.1:p.Ile903Val
NM_001375408.1:c.2134A>G	NP_001362337.1:p.Ile712Val
NM_001375409.1:c.2134A>G	NP_001362338.1:p.Ile712Val
NR_164685.1:n.3659A>G
NM_001166226.2:c.2629A>G	NP_001159698.1:p.Ile877Val
NM_153223.4:c.2707A>G	NP_694955.2:p.Ile903Val