Canonical Allele Identifier: CA15375924

Gene: CEP120

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.123391477G>T , CM000667.2:g.123391477G>T	GRCh38
NC_000005.9:g.122727171G>T , CM000667.1:g.122727171G>T	GRCh37
NC_000005.8:g.122755070G>T	NCBI36
NG_042125.1:g.37116C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001375405.1:c.811-140C>A MANE Select	NP_001362334.1:n.811-140C>A
ENST00000306467.10:c.811-140C>A MANE Select	ENSP00000303058.6:n.811-140C>A
NM_001166226.1:c.733-140C>A	NP_001159698.1:n.733-140C>A
NM_001166226.2:c.733-140C>A	NP_001159698.1:n.733-140C>A
NM_001375406.1:c.811-140C>A	NP_001362335.1:n.811-140C>A
NM_001375407.1:c.811-140C>A	NP_001362336.1:n.811-140C>A
NM_001375408.1:c.238-140C>A	NP_001362337.1:n.238-140C>A
NM_001375409.1:c.238-140C>A	NP_001362338.1:n.238-140C>A
NM_153223.3:c.811-140C>A	NP_694955.2:n.811-140C>A
NM_153223.4:c.811-140C>A	NP_694955.2:n.811-140C>A
NR_164685.1:n.1216-140C>A
ENST00000306467.9:c.811-140C>A	ENSP00000303058.5:n.811-140C>A
ENST00000306481.10:c.733-140C>A	ENSP00000307419.6:n.733-140C>A
ENST00000306481.11:c.733-140C>A	ENSP00000307419.6:n.733-140C>A
ENST00000328236.10:c.811-140C>A	ENSP00000327504.5:n.811-140C>A
ENST00000328236.9:c.811-140C>A	ENSP00000327504.5:n.811-140C>A
ENST00000503049.1:n.151-140C>A
ENST00000503049.2:n.866-140C>A
ENST00000508138.5:c.*383-140C>A	ENSP00000422234.1:n.*383-140C>A
ENST00000508442.6:c.733-140C>A	ENSP00000421620.2:n.733-140C>A
ENST00000508442.7:c.733-140C>A	ENSP00000421620.3:n.733-140C>A
ENST00000513565.6:c.811-140C>A	ENSP00000422089.2:n.811-140C>A
ENST00000674620.1:c.*297-140C>A	ENSP00000501651.1:n.*297-140C>A
ENST00000674667.1:c.811-140C>A	ENSP00000502819.1:n.811-140C>A
ENST00000674684.1:c.811-140C>A	ENSP00000501697.1:n.811-140C>A
ENST00000675003.1:n.1181-140C>A
ENST00000675104.1:c.811-140C>A	ENSP00000502078.1:n.811-140C>A
ENST00000675283.1:n.646-140C>A
ENST00000675330.1:c.811-140C>A	ENSP00000502634.1:n.811-140C>A
ENST00000675409.1:n.1261-140C>A
ENST00000675442.1:c.733-140C>A	ENSP00000502221.1:n.733-140C>A
ENST00000675444.1:n.1234-140C>A
ENST00000675686.1:c.*707-140C>A	ENSP00000501801.1:n.*707-140C>A
ENST00000675814.1:c.*364-140C>A	ENSP00000502121.1:n.*364-140C>A
ENST00000675852.1:n.1713-140C>A
XM_005271901.3:c.811-140C>A	XP_005271958.1:n.811-140C>A
XM_005271901.5:c.811-140C>A	XP_005271958.1:n.811-140C>A
XM_011543185.1:c.733-140C>A	XP_011541487.1:n.733-140C>A
XM_011543185.2:c.733-140C>A	XP_011541487.1:n.733-140C>A
XM_011543186.2:c.-785-140C>A	XP_011541488.1:n.-785-140C>A
XM_017009085.1:c.-650-140C>A	XP_016864574.1:n.-650-140C>A
XM_024454370.1:c.811-140C>A	XP_024310138.1:n.811-140C>A