Canonical Allele Identifier: CA7548011

Gene: CEP152

Linked Data

• ClinVar Variation Id: 420239
• ClinVar RCV Id: RCV000479330
• dbSNP Id: rs373148073
• ExAC: 15:49030642 T / C
• gnomAD v2: 15-49030642-T-C
• gnomAD v3: 15-48738445-T-C
• gnomAD v4: 15-48738445-T-C
• MyVariant Identifiers: chr15:g.49030642T>C (hg19) ; chr15:g.48738445T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48738445T>C , CM000677.2:g.48738445T>C	GRCh38
NC_000015.9:g.49030642T>C , CM000677.1:g.49030642T>C	GRCh37
NC_000015.8:g.46817934T>C	NCBI36
NG_027518.1:g.77702A>G
NG_027518.2:g.77702A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000380950.7:c.4937A>G MANE Select	ENSP00000370337.2:p.Tyr1646Cys
ENST00000380950.6:c.4937A>G	ENSP00000370337.2:p.Tyr1646Cys
ENST00000399334.7:c.4769A>G	ENSP00000382271.3:p.Tyr1590Cys
ENST00000561245.1:c.142+3186A>G	ENSP00000453591.1:n.142+3186A>G
NM_001194998.1:c.4937A>G	NP_001181927.1:p.Tyr1646Cys
NM_014985.3:c.4769A>G	NP_055800.2:p.Tyr1590Cys
XM_006720437.2:c.4937A>G	XP_006720500.1:p.Tyr1646Cys
XM_011521373.1:c.4907A>G	XP_011519675.1:p.Tyr1636Cys
XM_011521374.1:c.4093+3156A>G	XP_011519676.1:n.4093+3156A>G
XM_011521375.1:c.4064-1224A>G	XP_011519677.1:n.4064-1224A>G
XM_011521376.1:c.4063+3186A>G	XP_011519678.1:n.4063+3186A>G
XM_011521378.1:c.4063+3186A>G	XP_011519680.1:n.4063+3186A>G
XM_011521380.1:c.2978A>G	XP_011519682.1:p.Tyr993Cys
XM_011521381.1:c.2972A>G	XP_011519683.1:p.Tyr991Cys
XR_931769.1:n.5029-1224A>G
XR_931770.1:n.5058+3156A>G
XR_931771.1:n.5058+3156A>G
XR_931772.1:n.5058+3156A>G
XR_931773.1:n.5058+3156A>G
XR_931774.1:n.5058+3156A>G
XR_931775.1:n.5028+3186A>G
XM_006720437.3:c.4937A>G	XP_006720500.1:p.Tyr1646Cys
XM_011521373.3:c.4907A>G	XP_011519675.1:p.Tyr1636Cys
XM_011521374.3:c.4093+3156A>G	XP_011519676.1:n.4093+3156A>G
XM_011521375.3:c.4064-1224A>G	XP_011519677.1:n.4064-1224A>G
XM_011521378.3:c.4063+3186A>G	XP_011519680.1:n.4063+3186A>G
XM_011521379.3:c.*807A>G	XP_011519681.1:n.*807A>G
XM_011521381.2:c.2972A>G	XP_011519683.1:p.Tyr991Cys
XM_017022015.1:c.2972A>G	XP_016877504.1:p.Tyr991Cys
XM_024449875.1:c.4739A>G	XP_024305643.1:p.Tyr1580Cys
XR_001751153.2:n.5014+3186A>G
XR_931769.3:n.5015-1224A>G
XR_931770.3:n.5044+3156A>G
XR_931775.3:n.5014+3186A>G
NM_001194998.2:c.4937A>G MANE Select	NP_001181927.1:p.Tyr1646Cys
NM_014985.4:c.4769A>G	NP_055800.2:p.Tyr1590Cys