Canonical Allele Identifier: CA8900241

Gene: CEP192

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.13068192C>A , CM000680.2:g.13068192C>A	GRCh38
NC_000018.9:g.13068191C>A , CM000680.1:g.13068191C>A	GRCh37
NC_000018.8:g.13058191C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_032142.4:c.4713C>A MANE Select	NP_115518.3:p.Gly1571=
ENST00000506447.5:c.4713C>A MANE Select	ENSP00000427550.1:p.Gly1571=
NM_032142.3:c.4713C>A	NP_115518.3:p.Gly1571=
ENST00000325971.12:c.3288C>A	ENSP00000317156.9:p.Gly1096=
ENST00000430049.6:c.-19C>A	ENSP00000389190.3:n.-19C>A
ENST00000510237.5:c.3513C>A	ENSP00000423147.1:p.Gly1171=
ENST00000511820.6:c.3329C>A
ENST00000513432.5:c.5452C>A
ENST00000589993.5:c.356C>A
XM_005258107.2:c.4713C>A	XP_005258164.1:p.Gly1571=
XM_005258107.3:c.4713C>A	XP_005258164.1:p.Gly1571=
XM_005258108.1:c.4701C>A	XP_005258165.1:p.Gly1567=
XM_005258109.2:c.4503C>A	XP_005258166.1:p.Gly1501=
XM_005258109.3:c.4503C>A	XP_005258166.1:p.Gly1501=
XM_005258110.1:c.2667C>A	XP_005258167.1:p.Gly889=
XM_006722326.2:c.4713C>A	XP_006722389.1:p.Gly1571=
XM_006722326.3:c.4713C>A	XP_006722389.1:p.Gly1571=
XM_006722327.2:c.4503C>A	XP_006722390.1:p.Gly1501=
XM_006722327.3:c.4503C>A	XP_006722390.1:p.Gly1501=
XM_006722330.2:c.3696C>A	XP_006722393.1:p.Gly1232=
XM_006722330.3:c.3696C>A	XP_006722393.1:p.Gly1232=
XM_011525672.1:c.4557C>A	XP_011523974.1:p.Gly1519=
XM_011525673.1:c.4713C>A	XP_011523975.1:p.Gly1571=
XM_011525673.2:c.4713C>A	XP_011523975.1:p.Gly1571=
XM_011525674.1:c.4713C>A	XP_011523976.1:p.Gly1571=
XM_011525675.1:c.4374C>A	XP_011523977.1:p.Gly1458=
XM_011525675.3:c.4443C>A	XP_011523977.2:p.Gly1481=
XM_011525676.1:c.2925C>A	XP_011523978.1:p.Gly975=
XM_017025803.2:c.3966C>A	XP_016881292.1:p.Gly1322=
XM_017025804.1:c.3696C>A	XP_016881293.1:p.Gly1232=
XM_017025806.1:c.2808C>A	XP_016881295.1:p.Gly936=
XM_017025807.1:c.2667C>A	XP_016881296.1:p.Gly889=
XM_024451196.1:c.2925C>A	XP_024306964.1:p.Gly975=
XM_024451197.1:c.2667C>A	XP_024306965.1:p.Gly889=
XR_001753206.1:n.4848C>A
XR_001753207.1:n.4848C>A
XR_002958178.1:n.4848C>A
XR_243809.2:n.4685C>A
XR_243809.3:n.4699C>A
XR_430040.2:n.4831C>A
XR_935064.1:n.4832C>A