Canonical Allele Identifier: CA359032708

Gene: CEP72

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.635416G>A , CM000667.2:g.635416G>A	GRCh38
NC_000005.9:g.635531G>A , CM000667.1:g.635531G>A	GRCh37
NC_000005.8:g.688531G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264935.6:c.736G>A MANE Select	ENSP00000264935.5:p.Gly246Arg
ENST00000264935.5:c.736G>A	ENSP00000264935.5:p.Gly246Arg
NM_018140.3:c.736G>A	NP_060610.2:p.Gly246Arg
XM_005248322.2:c.586G>A	XP_005248379.1:p.Gly196Arg
XM_005248323.2:c.169G>A	XP_005248380.1:p.Gly57Arg
XM_011514063.1:c.736G>A	XP_011512365.1:p.Gly246Arg
XM_011514064.1:c.586G>A	XP_011512366.1:p.Gly196Arg
XM_011514065.1:c.586G>A	XP_011512367.1:p.Gly196Arg
XM_011514066.1:c.586G>A	XP_011512368.1:p.Gly196Arg
XR_925628.1:n.754G>A
XR_925630.1:n.754G>A
XR_925631.1:n.754G>A
XM_005248322.3:c.586G>A	XP_005248379.1:p.Gly196Arg
XM_011514064.2:c.586G>A	XP_011512366.1:p.Gly196Arg
XM_017009626.1:c.169G>A	XP_016865115.1:p.Gly57Arg
XM_017009627.1:c.169G>A	XP_016865116.1:p.Gly57Arg
XR_001742146.1:n.748G>A
XR_001742147.2:n.731G>A
XR_001742148.1:n.678G>A
XR_001742149.1:n.752G>A
XR_925630.2:n.754G>A
XR_925631.2:n.754G>A
NM_018140.4:c.736G>A MANE Select	NP_060610.2:p.Gly246Arg
NR_164122.1:n.916G>A