Canonical Allele Identifier: CA360897763

Gene: CEP120

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.123372682G>A , CM000667.2:g.123372682G>A	GRCh38
NC_000005.9:g.122708376G>A , CM000667.1:g.122708376G>A	GRCh37
NC_000005.8:g.122736275G>A	NCBI36
NG_042125.1:g.55911C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000306467.10:c.2449C>T MANE Select	ENSP00000303058.6:p.Gln817Ter
ENST00000306481.11:c.2371C>T	ENSP00000307419.6:p.Gln791Ter
ENST00000328236.10:c.2449C>T	ENSP00000327504.5:p.Gln817Ter
ENST00000508442.7:c.2371C>T	ENSP00000421620.3:p.Gln791Ter
ENST00000674620.1:c.*1800C>T	ENSP00000501651.1:n.*1800C>T
ENST00000674667.1:c.*1110C>T	ENSP00000502819.1:n.*1110C>T
ENST00000674684.1:c.2449C>T	ENSP00000501697.1:p.Gln817Ter
ENST00000675003.1:n.2947C>T
ENST00000675104.1:c.*1110C>T	ENSP00000502078.1:n.*1110C>T
ENST00000675283.1:n.2284C>T
ENST00000675330.1:c.2314C>T	ENSP00000502634.1:p.Gln772Ter
ENST00000675442.1:c.2350C>T	ENSP00000502221.1:p.Gln784Ter
ENST00000675444.1:n.2872C>T
ENST00000675686.1:c.*2345C>T	ENSP00000501801.1:n.*2345C>T
ENST00000675814.1:c.*2002C>T	ENSP00000502121.1:n.*2002C>T
ENST00000675852.1:n.4320C>T
ENST00000676068.1:n.1003C>T
ENST00000306467.9:c.2449C>T	ENSP00000303058.5:p.Gln817Ter
ENST00000306481.10:c.2371C>T	ENSP00000307419.6:p.Gln791Ter
ENST00000328236.9:c.2449C>T	ENSP00000327504.5:p.Gln817Ter
ENST00000508138.5:c.*2021C>T	ENSP00000422234.1:n.*2021C>T
ENST00000508442.6:c.2371C>T	ENSP00000421620.2:p.Gln791Ter
ENST00000513565.6:c.*1659C>T	ENSP00000422089.2:n.*1659C>T
NM_001166226.1:c.2371C>T	NP_001159698.1:p.Gln791Ter
NM_153223.3:c.2449C>T	NP_694955.2:p.Gln817Ter
XM_005271901.3:c.2314C>T	XP_005271958.1:p.Gln772Ter
XM_011543185.1:c.2371C>T	XP_011541487.1:p.Gln791Ter
XM_011543186.1:c.982C>T	XP_011541488.1:p.Gln328Ter
XM_005271901.5:c.2314C>T	XP_005271958.1:p.Gln772Ter
XM_011543185.2:c.2371C>T	XP_011541487.1:p.Gln791Ter
XM_011543186.2:c.982C>T	XP_011541488.1:p.Gln328Ter
XM_017009085.1:c.982C>T	XP_016864574.1:p.Gln328Ter
XM_024454370.1:c.2449C>T	XP_024310138.1:p.Gln817Ter
NM_001375405.1:c.2449C>T MANE Select	NP_001362334.1:p.Gln817Ter
NM_001375406.1:c.2314C>T	NP_001362335.1:p.Gln772Ter
NM_001375407.1:c.2449C>T	NP_001362336.1:p.Gln817Ter
NM_001375408.1:c.1876C>T	NP_001362337.1:p.Gln626Ter
NM_001375409.1:c.1876C>T	NP_001362338.1:p.Gln626Ter
NR_164685.1:n.3207C>T
NM_001166226.2:c.2371C>T	NP_001159698.1:p.Gln791Ter
NM_153223.4:c.2449C>T	NP_694955.2:p.Gln817Ter