Canonical Allele Identifier: CA10636166

Gene: CEP152

Linked Data

• ClinVar Variation Id: 316434
• ClinVar RCV Id: RCV000259289 ; RCV000333231
• dbSNP Id: rs886051266
• gnomAD v3: 15-48810963-G-C
• gnomAD v4: 15-48810963-G-C
• MyVariant Identifiers: chr15:g.49103160G>C (hg19) ; chr15:g.48810963G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48810963G>C , CM000677.2:g.48810963G>C	GRCh38
NC_000015.9:g.49103160G>C , CM000677.1:g.49103160G>C	GRCh37
NC_000015.8:g.46890452G>C	NCBI36
NG_027518.1:g.5184C>G
NG_027518.2:g.5184C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380950.7:c.-10C>G MANE Select	ENSP00000370337.2:n.-10C>G
ENST00000325747.9:c.-10C>G	ENSP00000321000.5:n.-10C>G
ENST00000380950.6:c.-10C>G	ENSP00000370337.2:n.-10C>G
ENST00000399334.7:c.-10C>G	ENSP00000382271.3:n.-10C>G
ENST00000559444.1:n.117C>G
ENST00000559630.1:n.114C>G
ENST00000560322.5:c.-10C>G	ENSP00000453440.1:n.-10C>G
NM_001194998.1:c.-10C>G	NP_001181927.1:n.-10C>G
NM_014985.3:c.-10C>G	NP_055800.2:n.-10C>G
XM_011521373.1:c.-10C>G	XP_011519675.1:n.-10C>G
XM_011521374.1:c.-10C>G	XP_011519676.1:n.-10C>G
XM_011521375.1:c.-10C>G	XP_011519677.1:n.-10C>G
XM_011521376.1:c.-10C>G	XP_011519678.1:n.-10C>G
XM_011521377.1:c.-10C>G	XP_011519679.1:n.-10C>G
XM_011521378.1:c.-10C>G	XP_011519680.1:n.-10C>G
XM_011521379.1:c.-10C>G	XP_011519681.1:n.-10C>G
XR_931769.1:n.956C>G
XR_931770.1:n.956C>G
XR_931771.1:n.956C>G
XR_931772.1:n.956C>G
XR_931773.1:n.956C>G
XR_931774.1:n.956C>G
XR_931775.1:n.956C>G
XM_011521373.3:c.-10C>G	XP_011519675.1:n.-10C>G
XM_011521374.3:c.-10C>G	XP_011519676.1:n.-10C>G
XM_011521375.3:c.-10C>G	XP_011519677.1:n.-10C>G
XM_011521378.3:c.-10C>G	XP_011519680.1:n.-10C>G
XM_011521379.3:c.-10C>G	XP_011519681.1:n.-10C>G
XM_017022016.2:c.-10C>G	XP_016877505.1:n.-10C>G
XM_024449875.1:c.-10C>G	XP_024305643.1:n.-10C>G
XR_001751153.2:n.942C>G
XR_931769.3:n.942C>G
XR_931770.3:n.942C>G
XR_931775.3:n.942C>G
NM_001194998.2:c.-10C>G MANE Select	NP_001181927.1:n.-10C>G
NM_014985.4:c.-10C>G	NP_055800.2:n.-10C>G