Canonical Allele Identifier: CA8899921

Gene: CEP192

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.13056066C>G , CM000680.2:g.13056066C>G	GRCh38
NC_000018.9:g.13056065C>G , CM000680.1:g.13056065C>G	GRCh37
NC_000018.8:g.13046065C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000325971.12:c.2051C>G	ENSP00000317156.9:p.Pro684Arg
ENST00000506447.5:c.3476C>G MANE Select	ENSP00000427550.1:p.Pro1159Arg
ENST00000510237.5:c.2276C>G	ENSP00000423147.1:p.Pro759Arg
ENST00000511820.6:c.2092C>G
ENST00000513432.5:c.2867C>G
ENST00000589596.5:c.2699C>G	ENSP00000466258.1:p.Pro900Arg
NM_032142.3:c.3476C>G	NP_115518.3:p.Pro1159Arg
XM_005258107.2:c.3476C>G	XP_005258164.1:p.Pro1159Arg
XM_005258108.1:c.3464C>G	XP_005258165.1:p.Pro1155Arg
XM_005258109.2:c.3266C>G	XP_005258166.1:p.Pro1089Arg
XM_005258110.1:c.1430C>G	XP_005258167.1:p.Pro477Arg
XM_006722326.2:c.3476C>G	XP_006722389.1:p.Pro1159Arg
XM_006722327.2:c.3266C>G	XP_006722390.1:p.Pro1089Arg
XM_006722330.2:c.2459C>G	XP_006722393.1:p.Pro820Arg
XM_011525672.1:c.3320C>G	XP_011523974.1:p.Pro1107Arg
XM_011525673.1:c.3476C>G	XP_011523975.1:p.Pro1159Arg
XM_011525674.1:c.3476C>G	XP_011523976.1:p.Pro1159Arg
XM_011525675.1:c.3137C>G	XP_011523977.1:p.Pro1046Arg
XM_011525676.1:c.1688C>G	XP_011523978.1:p.Pro563Arg
XR_243809.2:n.3597C>G
XR_430040.2:n.3594C>G
XR_935064.1:n.3595C>G
XM_005258107.3:c.3476C>G	XP_005258164.1:p.Pro1159Arg
XM_005258109.3:c.3266C>G	XP_005258166.1:p.Pro1089Arg
XM_006722326.3:c.3476C>G	XP_006722389.1:p.Pro1159Arg
XM_006722327.3:c.3266C>G	XP_006722390.1:p.Pro1089Arg
XM_006722330.3:c.2459C>G	XP_006722393.1:p.Pro820Arg
XM_011525673.2:c.3476C>G	XP_011523975.1:p.Pro1159Arg
XM_011525675.3:c.3206C>G	XP_011523977.2:p.Pro1069Arg
XM_017025803.2:c.2729C>G	XP_016881292.1:p.Pro910Arg
XM_017025804.1:c.2459C>G	XP_016881293.1:p.Pro820Arg
XM_017025806.1:c.1571C>G	XP_016881295.1:p.Pro524Arg
XM_017025807.1:c.1430C>G	XP_016881296.1:p.Pro477Arg
XM_024451196.1:c.1688C>G	XP_024306964.1:p.Pro563Arg
XM_024451197.1:c.1430C>G	XP_024306965.1:p.Pro477Arg
XR_001753206.1:n.3611C>G
XR_001753207.1:n.3611C>G
XR_002958178.1:n.3611C>G
XR_243809.3:n.3611C>G
NM_032142.4:c.3476C>G MANE Select	NP_115518.3:p.Pro1159Arg