Canonical Allele Identifier: CA112842074

Gene: CEP72

Linked Data

• dbSNP Id: rs1028417333
• gnomAD v3: 5-618462-G-C
• gnomAD v4: 5-618462-G-C
• MyVariant Identifiers: chr5:g.618577G>C (hg19) ; chr5:g.618462G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.618462G>C , CM000667.2:g.618462G>C	GRCh38
NC_000005.9:g.618577G>C , CM000667.1:g.618577G>C	GRCh37
NC_000005.8:g.671577G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264935.6:c.83-528G>C MANE Select	ENSP00000264935.5:n.83-528G>C
ENST00000264935.5:c.83-528G>C	ENSP00000264935.5:n.83-528G>C
NM_018140.3:c.83-528G>C	NP_060610.2:n.83-528G>C
XM_005248322.2:c.-68-528G>C	XP_005248379.1:n.-68-528G>C
XM_011514063.1:c.83-528G>C	XP_011512365.1:n.83-528G>C
XM_011514064.1:c.-68-528G>C	XP_011512366.1:n.-68-528G>C
XM_011514065.1:c.-68-528G>C	XP_011512367.1:n.-68-528G>C
XM_011514066.1:c.-68-528G>C	XP_011512368.1:n.-68-528G>C
XR_925628.1:n.101-528G>C
XR_925630.1:n.101-528G>C
XR_925631.1:n.101-528G>C
XM_005248322.3:c.-68-528G>C	XP_005248379.1:n.-68-528G>C
XM_011514064.2:c.-68-528G>C	XP_011512366.1:n.-68-528G>C
XM_017009626.1:c.-376-528G>C	XP_016865115.1:n.-376-528G>C
XM_017009627.1:c.-376-528G>C	XP_016865116.1:n.-376-528G>C
XR_001742146.1:n.95-528G>C
XR_001742147.2:n.78-528G>C
XR_001742148.1:n.25-528G>C
XR_001742149.1:n.208-528G>C
XR_925630.2:n.101-528G>C
XR_925631.2:n.101-528G>C
NM_018140.4:c.83-528G>C MANE Select	NP_060610.2:n.83-528G>C
NR_164122.1:n.263-528G>C