Canonical Allele Identifier: CA211071

Gene: CEP152

Linked Data

• ClinVar Variation Id: 158262
• ClinVar RCV Id: RCV000145634 ; RCV000270516 ; RCV000381261 ; RCV000969294 ; RCV004532649
• dbSNP Id: rs149478199
• ExAC: 15:49033819 G / C
• gnomAD v2: 15-49033819-G-C
• gnomAD v3: 15-48741622-G-C
• gnomAD v4: 15-48741622-G-C
• MyVariant Identifiers: chr15:g.49033819G>C (hg19) ; chr15:g.48741622G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48741622G>C , CM000677.2:g.48741622G>C	GRCh38
NC_000015.9:g.49033819G>C , CM000677.1:g.49033819G>C	GRCh37
NC_000015.8:g.46821111G>C	NCBI36
NG_027518.1:g.74525C>G
NG_027518.2:g.74525C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380950.7:c.4072C>G MANE Select	ENSP00000370337.2:p.Gln1358Glu
ENST00000325747.9:c.3793C>G	ENSP00000321000.5:p.Gln1265Glu
ENST00000380950.6:c.4072C>G	ENSP00000370337.2:p.Gln1358Glu
ENST00000399334.7:c.3904C>G	ENSP00000382271.3:p.Gln1302Glu
ENST00000561245.1:c.142+9C>G	ENSP00000453591.1:n.142+9C>G
NM_001194998.1:c.4072C>G	NP_001181927.1:p.Gln1358Glu
NM_014985.3:c.3904C>G	NP_055800.2:p.Gln1302Glu
XM_006720437.2:c.4072C>G	XP_006720500.1:p.Gln1358Glu
XM_011521373.1:c.4063+9C>G	XP_011519675.1:n.4063+9C>G
XM_011521374.1:c.4072C>G	XP_011519676.1:p.Gln1358Glu
XM_011521375.1:c.4063+9C>G	XP_011519677.1:n.4063+9C>G
XM_011521376.1:c.4063+9C>G	XP_011519678.1:n.4063+9C>G
XM_011521377.1:c.4063+9C>G	XP_011519679.1:n.4063+9C>G
XM_011521378.1:c.4063+9C>G	XP_011519680.1:n.4063+9C>G
XM_011521379.1:c.3989+325C>G	XP_011519681.1:n.3989+325C>G
XM_011521380.1:c.2113C>G	XP_011519682.1:p.Gln705Glu
XM_011521381.1:c.2107C>G	XP_011519683.1:p.Gln703Glu
XR_931769.1:n.5028+9C>G
XR_931770.1:n.5037C>G
XR_931771.1:n.5037C>G
XR_931772.1:n.5037C>G
XR_931773.1:n.5037C>G
XR_931774.1:n.5037C>G
XR_931775.1:n.5028+9C>G
XM_006720437.3:c.4072C>G	XP_006720500.1:p.Gln1358Glu
XM_011521373.3:c.4063+9C>G	XP_011519675.1:n.4063+9C>G
XM_011521374.3:c.4072C>G	XP_011519676.1:p.Gln1358Glu
XM_011521375.3:c.4063+9C>G	XP_011519677.1:n.4063+9C>G
XM_011521378.3:c.4063+9C>G	XP_011519680.1:n.4063+9C>G
XM_011521379.3:c.3989+325C>G	XP_011519681.1:n.3989+325C>G
XM_011521381.2:c.2107C>G	XP_011519683.1:p.Gln703Glu
XM_017022015.1:c.2107C>G	XP_016877504.1:p.Gln703Glu
XM_024449875.1:c.3895+9C>G	XP_024305643.1:n.3895+9C>G
XR_001751153.2:n.5014+9C>G
XR_931769.3:n.5014+9C>G
XR_931770.3:n.5023C>G
XR_931775.3:n.5014+9C>G
NM_001194998.2:c.4072C>G MANE Select	NP_001181927.1:p.Gln1358Glu
NM_014985.4:c.3904C>G	NP_055800.2:p.Gln1302Glu