Canonical Allele Identifier: CA3176844

Gene: CEP72

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.637616G>A , CM000667.2:g.637616G>A	GRCh38
NC_000005.9:g.637731G>A , CM000667.1:g.637731G>A	GRCh37
NC_000005.8:g.690731G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_018140.4:c.1004G>A MANE Select	NP_060610.2:p.Arg335Gln
ENST00000264935.6:c.1004G>A MANE Select	ENSP00000264935.5:p.Arg335Gln
NM_018140.3:c.1004G>A	NP_060610.2:p.Arg335Gln
NR_164122.1:n.1184G>A
ENST00000264935.5:c.1004G>A	ENSP00000264935.5:p.Arg335Gln
XM_005248322.2:c.854G>A	XP_005248379.1:p.Arg285Gln
XM_005248322.3:c.854G>A	XP_005248379.1:p.Arg285Gln
XM_005248323.2:c.437G>A	XP_005248380.1:p.Arg146Gln
XM_011514063.1:c.1004G>A	XP_011512365.1:p.Arg335Gln
XM_011514064.1:c.854G>A	XP_011512366.1:p.Arg285Gln
XM_011514064.2:c.854G>A	XP_011512366.1:p.Arg285Gln
XM_011514065.1:c.854G>A	XP_011512367.1:p.Arg285Gln
XM_011514066.1:c.854G>A	XP_011512368.1:p.Arg285Gln
XM_017009626.1:c.437G>A	XP_016865115.1:p.Arg146Gln
XM_017009627.1:c.437G>A	XP_016865116.1:p.Arg146Gln
XR_001742146.1:n.1016G>A
XR_001742147.2:n.999G>A
XR_001742148.1:n.946G>A
XR_001742149.1:n.1020G>A
XR_925628.1:n.1022G>A
XR_925630.1:n.1022G>A
XR_925630.2:n.1022G>A
XR_925631.1:n.1022G>A
XR_925631.2:n.1022G>A