Canonical Allele Identifier: CA3176648

Gene: CEP72

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.633788A>G , CM000667.2:g.633788A>G	GRCh38
NC_000005.9:g.633903A>G , CM000667.1:g.633903A>G	GRCh37
NC_000005.8:g.686903A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264935.6:c.532A>G MANE Select	ENSP00000264935.5:p.Lys178Glu
ENST00000264935.5:c.532A>G	ENSP00000264935.5:p.Lys178Glu
NM_018140.3:c.532A>G	NP_060610.2:p.Lys178Glu
XM_005248322.2:c.382A>G	XP_005248379.1:p.Lys128Glu
XM_005248323.2:c.-36A>G	XP_005248380.1:n.-36A>G
XM_011514063.1:c.532A>G	XP_011512365.1:p.Lys178Glu
XM_011514064.1:c.382A>G	XP_011512366.1:p.Lys128Glu
XM_011514065.1:c.382A>G	XP_011512367.1:p.Lys128Glu
XM_011514066.1:c.382A>G	XP_011512368.1:p.Lys128Glu
XR_925628.1:n.550A>G
XR_925630.1:n.550A>G
XR_925631.1:n.550A>G
XM_005248322.3:c.382A>G	XP_005248379.1:p.Lys128Glu
XM_011514064.2:c.382A>G	XP_011512366.1:p.Lys128Glu
XM_017009626.1:c.-36A>G	XP_016865115.1:n.-36A>G
XM_017009627.1:c.-36A>G	XP_016865116.1:n.-36A>G
XR_001742146.1:n.544A>G
XR_001742147.2:n.527A>G
XR_001742148.1:n.474A>G
XR_001742149.1:n.548A>G
XR_925630.2:n.550A>G
XR_925631.2:n.550A>G
NM_018140.4:c.532A>G MANE Select	NP_060610.2:p.Lys178Glu
NR_164122.1:n.712A>G