Canonical Allele Identifier: CA1072432227

Gene: CEP72

Linked Data

• dbSNP Id: rs1736142900
• gnomAD v3: 5-618528-G-A
• gnomAD v4: 5-618528-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.618528G>A , CM000667.2:g.618528G>A	GRCh38
NC_000005.9:g.618643G>A , CM000667.1:g.618643G>A	GRCh37
NC_000005.8:g.671643G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000264935.6:c.83-462G>A MANE Select	ENSP00000264935.5:n.83-462G>A
ENST00000264935.5:c.83-462G>A	ENSP00000264935.5:n.83-462G>A
NM_018140.3:c.83-462G>A	NP_060610.2:n.83-462G>A
XM_005248322.2:c.-68-462G>A	XP_005248379.1:n.-68-462G>A
XM_011514063.1:c.83-462G>A	XP_011512365.1:n.83-462G>A
XM_011514064.1:c.-68-462G>A	XP_011512366.1:n.-68-462G>A
XM_011514065.1:c.-68-462G>A	XP_011512367.1:n.-68-462G>A
XM_011514066.1:c.-68-462G>A	XP_011512368.1:n.-68-462G>A
XR_925628.1:n.101-462G>A
XR_925630.1:n.101-462G>A
XR_925631.1:n.101-462G>A
XM_005248322.3:c.-68-462G>A	XP_005248379.1:n.-68-462G>A
XM_011514064.2:c.-68-462G>A	XP_011512366.1:n.-68-462G>A
XM_017009626.1:c.-376-462G>A	XP_016865115.1:n.-376-462G>A
XM_017009627.1:c.-376-462G>A	XP_016865116.1:n.-376-462G>A
XR_001742146.1:n.95-462G>A
XR_001742147.2:n.78-462G>A
XR_001742148.1:n.25-462G>A
XR_001742149.1:n.208-462G>A
XR_925630.2:n.101-462G>A
XR_925631.2:n.101-462G>A
NM_018140.4:c.83-462G>A MANE Select	NP_060610.2:n.83-462G>A
NR_164122.1:n.263-462G>A