Canonical Allele Identifier: CA3176557

Gene: CEP72

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.620220G>A , CM000667.2:g.620220G>A	GRCh38
NC_000005.9:g.620335G>A , CM000667.1:g.620335G>A	GRCh37
NC_000005.8:g.673335G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_018140.4:c.362G>A MANE Select	NP_060610.2:p.Arg121His
ENST00000264935.6:c.362G>A MANE Select	ENSP00000264935.5:p.Arg121His
NM_018140.3:c.362G>A	NP_060610.2:p.Arg121His
NR_164122.1:n.542G>A
ENST00000264935.5:c.362G>A	ENSP00000264935.5:p.Arg121His
XM_005248322.2:c.212G>A	XP_005248379.1:p.Arg71His
XM_005248322.3:c.212G>A	XP_005248379.1:p.Arg71His
XM_005248323.2:c.-97G>A	XP_005248380.1:n.-97G>A
XM_011514063.1:c.362G>A	XP_011512365.1:p.Arg121His
XM_011514064.1:c.212G>A	XP_011512366.1:p.Arg71His
XM_011514064.2:c.212G>A	XP_011512366.1:p.Arg71His
XM_011514065.1:c.212G>A	XP_011512367.1:p.Arg71His
XM_011514066.1:c.212G>A	XP_011512368.1:p.Arg71His
XM_017009626.1:c.-97G>A	XP_016865115.1:n.-97G>A
XM_017009627.1:c.-97G>A	XP_016865116.1:n.-97G>A
XR_001742146.1:n.374G>A
XR_001742147.2:n.357G>A
XR_001742148.1:n.304G>A
XR_001742149.1:n.487G>A
XR_925628.1:n.380G>A
XR_925630.1:n.380G>A
XR_925630.2:n.380G>A
XR_925631.1:n.380G>A
XR_925631.2:n.380G>A