Canonical Allele Identifier: CA148696

Gene: CEP152

Linked Data

• ClinVar Variation Id: 95653
• ClinVar RCV Id: RCV000081686 ; RCV000339078 ; RCV000281663 ; RCV002055209
• dbSNP Id: rs2306187
• ExAC: 15:49044538 C / G
• gnomAD v2: 15-49044538-C-G
• gnomAD v3: 15-48752341-C-G
• gnomAD v4: 15-48752341-C-G
• MyVariant Identifiers: chr15:g.49044538C>G (hg19) ; chr15:g.48752341C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48752341C>G , CM000677.2:g.48752341C>G	GRCh38
NC_000015.9:g.49044538C>G , CM000677.1:g.49044538C>G	GRCh37
NC_000015.8:g.46831830C>G	NCBI36
NG_027518.1:g.63806G>C
NG_027518.2:g.63806G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380950.7:c.3466+8G>C MANE Select	ENSP00000370337.2:n.3466+8G>C
ENST00000325747.9:c.3187+8G>C	ENSP00000321000.5:n.3187+8G>C
ENST00000380950.6:c.3466+8G>C	ENSP00000370337.2:n.3466+8G>C
ENST00000399334.7:c.3466+8G>C	ENSP00000382271.3:n.3466+8G>C
NM_001194998.1:c.3466+8G>C	NP_001181927.1:n.3466+8G>C
NM_014985.3:c.3466+8G>C	NP_055800.2:n.3466+8G>C
XM_006720437.2:c.3466+8G>C	XP_006720500.1:n.3466+8G>C
XM_011521373.1:c.3466+8G>C	XP_011519675.1:n.3466+8G>C
XM_011521374.1:c.3466+8G>C	XP_011519676.1:n.3466+8G>C
XM_011521375.1:c.3466+8G>C	XP_011519677.1:n.3466+8G>C
XM_011521376.1:c.3466+8G>C	XP_011519678.1:n.3466+8G>C
XM_011521377.1:c.3466+8G>C	XP_011519679.1:n.3466+8G>C
XM_011521378.1:c.3466+8G>C	XP_011519680.1:n.3466+8G>C
XM_011521379.1:c.3466+8G>C	XP_011519681.1:n.3466+8G>C
XM_011521380.1:c.1507+8G>C	XP_011519682.1:n.1507+8G>C
XM_011521381.1:c.1501+8G>C	XP_011519683.1:n.1501+8G>C
XR_931769.1:n.4431+8G>C
XR_931770.1:n.4431+8G>C
XR_931771.1:n.4431+8G>C
XR_931772.1:n.4431+8G>C
XR_931773.1:n.4431+8G>C
XR_931774.1:n.4431+8G>C
XR_931775.1:n.4431+8G>C
XM_006720437.3:c.3466+8G>C	XP_006720500.1:n.3466+8G>C
XM_011521373.3:c.3466+8G>C	XP_011519675.1:n.3466+8G>C
XM_011521374.3:c.3466+8G>C	XP_011519676.1:n.3466+8G>C
XM_011521375.3:c.3466+8G>C	XP_011519677.1:n.3466+8G>C
XM_011521378.3:c.3466+8G>C	XP_011519680.1:n.3466+8G>C
XM_011521379.3:c.3466+8G>C	XP_011519681.1:n.3466+8G>C
XM_011521381.2:c.1501+8G>C	XP_011519683.1:n.1501+8G>C
XM_017022015.1:c.1501+8G>C	XP_016877504.1:n.1501+8G>C
XM_024449875.1:c.3466+8G>C	XP_024305643.1:n.3466+8G>C
XR_001751153.2:n.4417+8G>C
XR_931769.3:n.4417+8G>C
XR_931770.3:n.4417+8G>C
XR_931775.3:n.4417+8G>C
NM_001194998.2:c.3466+8G>C MANE Select	NP_001181927.1:n.3466+8G>C
NM_014985.4:c.3466+8G>C	NP_055800.2:n.3466+8G>C