Canonical Allele Identifier: CA112822528

Gene: CEP72

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.647856A>G , CM000667.2:g.647856A>G	GRCh38
NC_000005.9:g.647971A>G , CM000667.1:g.647971A>G	GRCh37
NC_000005.8:g.700971A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_018140.4:c.1718A>G MANE Select	NP_060610.2:p.Gln573Arg
ENST00000264935.6:c.1718A>G MANE Select	ENSP00000264935.5:p.Gln573Arg
NM_018140.3:c.1718A>G	NP_060610.2:p.Gln573Arg
NR_164122.1:n.1898A>G
ENST00000264935.5:c.1718A>G	ENSP00000264935.5:p.Gln573Arg
ENST00000512038.1:n.340A>G
XM_005248322.2:c.1568A>G	XP_005248379.1:p.Gln523Arg
XM_005248322.3:c.1568A>G	XP_005248379.1:p.Gln523Arg
XM_005248323.2:c.1151A>G	XP_005248380.1:p.Gln384Arg
XM_011514063.1:c.1718A>G	XP_011512365.1:p.Gln573Arg
XM_011514064.1:c.1568A>G	XP_011512366.1:p.Gln523Arg
XM_011514064.2:c.1568A>G	XP_011512366.1:p.Gln523Arg
XM_011514065.1:c.1568A>G	XP_011512367.1:p.Gln523Arg
XM_011514066.1:c.1568A>G	XP_011512368.1:p.Gln523Arg
XM_017009626.1:c.1151A>G	XP_016865115.1:p.Gln384Arg
XM_017009627.1:c.1151A>G	XP_016865116.1:p.Gln384Arg
XR_001742146.1:n.1730A>G
XR_001742147.2:n.1713A>G
XR_001742148.1:n.1660A>G
XR_001742149.1:n.4799A>G
XR_925628.1:n.1736A>G
XR_925630.1:n.1736A>G
XR_925630.2:n.1736A>G
XR_925631.2:n.4801A>G