Canonical Allele Identifier: CA10642121

Gene: CEP152

Linked Data

• ClinVar Variation Id: 316435
• ClinVar RCV Id: RCV000294275 ; RCV000387753
• dbSNP Id: rs141463032
• gnomAD v2: 15-49103227-C-G
• gnomAD v3: 15-48811030-C-G
• gnomAD v4: 15-48811030-C-G
• MyVariant Identifiers: chr15:g.49103227C>G (hg19) ; chr15:g.48811030C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48811030C>G , CM000677.2:g.48811030C>G	GRCh38
NC_000015.9:g.49103227C>G , CM000677.1:g.49103227C>G	GRCh37
NC_000015.8:g.46890519C>G	NCBI36
NG_027518.1:g.5117G>C
NG_027518.2:g.5117G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380950.7:c.-77G>C MANE Select	ENSP00000370337.2:n.-77G>C
ENST00000325747.9:c.-77G>C	ENSP00000321000.5:n.-77G>C
ENST00000380950.6:c.-77G>C	ENSP00000370337.2:n.-77G>C
ENST00000559444.1:n.50G>C
ENST00000559630.1:n.47G>C
ENST00000560322.5:c.-77G>C	ENSP00000453440.1:n.-77G>C
NM_001194998.1:c.-77G>C	NP_001181927.1:n.-77G>C
NM_014985.3:c.-77G>C	NP_055800.2:n.-77G>C
XM_011521373.1:c.-77G>C	XP_011519675.1:n.-77G>C
XM_011521374.1:c.-77G>C	XP_011519676.1:n.-77G>C
XM_011521375.1:c.-77G>C	XP_011519677.1:n.-77G>C
XM_011521376.1:c.-77G>C	XP_011519678.1:n.-77G>C
XM_011521377.1:c.-77G>C	XP_011519679.1:n.-77G>C
XM_011521378.1:c.-77G>C	XP_011519680.1:n.-77G>C
XM_011521379.1:c.-77G>C	XP_011519681.1:n.-77G>C
XR_931769.1:n.889G>C
XR_931770.1:n.889G>C
XR_931771.1:n.889G>C
XR_931772.1:n.889G>C
XR_931773.1:n.889G>C
XR_931774.1:n.889G>C
XR_931775.1:n.889G>C
XM_011521373.3:c.-77G>C	XP_011519675.1:n.-77G>C
XM_011521374.3:c.-77G>C	XP_011519676.1:n.-77G>C
XM_011521375.3:c.-77G>C	XP_011519677.1:n.-77G>C
XM_011521378.3:c.-77G>C	XP_011519680.1:n.-77G>C
XM_011521379.3:c.-77G>C	XP_011519681.1:n.-77G>C
XM_017022016.2:c.-77G>C	XP_016877505.1:n.-77G>C
XM_024449875.1:c.-77G>C	XP_024305643.1:n.-77G>C
XR_001751153.2:n.875G>C
XR_931769.3:n.875G>C
XR_931770.3:n.875G>C
XR_931775.3:n.875G>C
NM_001194998.2:c.-77G>C MANE Select	NP_001181927.1:n.-77G>C
NM_014985.4:c.-77G>C	NP_055800.2:n.-77G>C