Canonical Allele Identifier: CA812767311

Gene: CEP72

Linked Data

• dbSNP Id: rs1239821843
• gnomAD v3: 5-618522-C-T
• gnomAD v4: 5-618522-C-T
• MyVariant Identifiers: chr5:g.618637C>T (hg19) ; chr5:g.618522C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.618522C>T , CM000667.2:g.618522C>T	GRCh38
NC_000005.9:g.618637C>T , CM000667.1:g.618637C>T	GRCh37
NC_000005.8:g.671637C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000264935.6:c.83-468C>T MANE Select	ENSP00000264935.5:n.83-468C>T
ENST00000264935.5:c.83-468C>T	ENSP00000264935.5:n.83-468C>T
NM_018140.3:c.83-468C>T	NP_060610.2:n.83-468C>T
XM_005248322.2:c.-68-468C>T	XP_005248379.1:n.-68-468C>T
XM_011514063.1:c.83-468C>T	XP_011512365.1:n.83-468C>T
XM_011514064.1:c.-68-468C>T	XP_011512366.1:n.-68-468C>T
XM_011514065.1:c.-68-468C>T	XP_011512367.1:n.-68-468C>T
XM_011514066.1:c.-68-468C>T	XP_011512368.1:n.-68-468C>T
XR_925628.1:n.101-468C>T
XR_925630.1:n.101-468C>T
XR_925631.1:n.101-468C>T
XM_005248322.3:c.-68-468C>T	XP_005248379.1:n.-68-468C>T
XM_011514064.2:c.-68-468C>T	XP_011512366.1:n.-68-468C>T
XM_017009626.1:c.-376-468C>T	XP_016865115.1:n.-376-468C>T
XM_017009627.1:c.-376-468C>T	XP_016865116.1:n.-376-468C>T
XR_001742146.1:n.95-468C>T
XR_001742147.2:n.78-468C>T
XR_001742148.1:n.25-468C>T
XR_001742149.1:n.208-468C>T
XR_925630.2:n.101-468C>T
XR_925631.2:n.101-468C>T
NM_018140.4:c.83-468C>T MANE Select	NP_060610.2:n.83-468C>T
NR_164122.1:n.263-468C>T