Canonical Allele Identifier: CA3387092

Gene: CEP120

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.123391130T>G , CM000667.2:g.123391130T>G	GRCh38
NC_000005.9:g.122726824T>G , CM000667.1:g.122726824T>G	GRCh37
NC_000005.8:g.122754723T>G	NCBI36
NG_042125.1:g.37463A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001375405.1:c.1018A>C MANE Select	NP_001362334.1:p.Arg340=
ENST00000306467.10:c.1018A>C MANE Select	ENSP00000303058.6:p.Arg340=
NM_001166226.1:c.940A>C	NP_001159698.1:p.Arg314=
NM_001166226.2:c.940A>C	NP_001159698.1:p.Arg314=
NM_001375406.1:c.1018A>C	NP_001362335.1:p.Arg340=
NM_001375407.1:c.1018A>C	NP_001362336.1:p.Arg340=
NM_001375408.1:c.445A>C	NP_001362337.1:p.Arg149=
NM_001375409.1:c.445A>C	NP_001362338.1:p.Arg149=
NM_153223.3:c.1018A>C	NP_694955.2:p.Arg340=
NM_153223.4:c.1018A>C	NP_694955.2:p.Arg340=
NR_164685.1:n.1423A>C
ENST00000306467.9:c.1018A>C	ENSP00000303058.5:p.Arg340=
ENST00000306481.10:c.940A>C	ENSP00000307419.6:p.Arg314=
ENST00000306481.11:c.940A>C	ENSP00000307419.6:p.Arg314=
ENST00000328236.10:c.1018A>C	ENSP00000327504.5:p.Arg340=
ENST00000328236.9:c.1018A>C	ENSP00000327504.5:p.Arg340=
ENST00000503049.1:n.358A>C
ENST00000503049.2:n.1073A>C
ENST00000508138.5:c.*590A>C	ENSP00000422234.1:n.*590A>C
ENST00000508442.6:c.940A>C	ENSP00000421620.2:p.Arg314=
ENST00000508442.7:c.940A>C	ENSP00000421620.3:p.Arg314=
ENST00000513565.6:c.1018A>C	ENSP00000422089.2:p.Arg340=
ENST00000674620.1:c.*504A>C	ENSP00000501651.1:n.*504A>C
ENST00000674667.1:c.1018A>C	ENSP00000502819.1:p.Arg340=
ENST00000674684.1:c.1018A>C	ENSP00000501697.1:p.Arg340=
ENST00000675003.1:n.1388A>C
ENST00000675104.1:c.1018A>C	ENSP00000502078.1:p.Arg340=
ENST00000675283.1:n.853A>C
ENST00000675330.1:c.1018A>C	ENSP00000502634.1:p.Arg340=
ENST00000675409.1:n.1468A>C
ENST00000675442.1:c.940A>C	ENSP00000502221.1:p.Arg314=
ENST00000675444.1:n.1441A>C
ENST00000675686.1:c.*914A>C	ENSP00000501801.1:n.*914A>C
ENST00000675814.1:c.*571A>C	ENSP00000502121.1:n.*571A>C
ENST00000675852.1:n.1920A>C
XM_005271901.3:c.1018A>C	XP_005271958.1:p.Arg340=
XM_005271901.5:c.1018A>C	XP_005271958.1:p.Arg340=
XM_011543185.1:c.940A>C	XP_011541487.1:p.Arg314=
XM_011543185.2:c.940A>C	XP_011541487.1:p.Arg314=
XM_011543186.2:c.-578A>C	XP_011541488.1:n.-578A>C
XM_017009085.1:c.-443A>C	XP_016864574.1:n.-443A>C
XM_024454370.1:c.1018A>C	XP_024310138.1:p.Arg340=