Canonical Allele Identifier: CA392343229

Gene: CEP152

Linked Data

• ClinVar Variation Id: 2831470
• ClinVar RCV Id: RCV003686606
• gnomAD v4: 15-48756368-C-T
• MyVariant Identifiers: chr15:g.49048565C>T (hg19) ; chr15:g.48756368C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48756368C>T , CM000677.2:g.48756368C>T	GRCh38
NC_000015.9:g.49048565C>T , CM000677.1:g.49048565C>T	GRCh37
NC_000015.8:g.46835857C>T	NCBI36
NG_027518.1:g.59779G>A
NG_027518.2:g.59779G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380950.7:c.2880G>A MANE Select	ENSP00000370337.2:p.Trp960Ter
ENST00000325747.9:c.2601G>A	ENSP00000321000.5:p.Trp867Ter
ENST00000380950.6:c.2880G>A	ENSP00000370337.2:p.Trp960Ter
ENST00000399334.7:c.2880G>A	ENSP00000382271.3:p.Trp960Ter
NM_001194998.1:c.2880G>A	NP_001181927.1:p.Trp960Ter
NM_014985.3:c.2880G>A	NP_055800.2:p.Trp960Ter
XM_006720437.2:c.2880G>A	XP_006720500.1:p.Trp960Ter
XM_011521373.1:c.2880G>A	XP_011519675.1:p.Trp960Ter
XM_011521374.1:c.2880G>A	XP_011519676.1:p.Trp960Ter
XM_011521375.1:c.2880G>A	XP_011519677.1:p.Trp960Ter
XM_011521376.1:c.2880G>A	XP_011519678.1:p.Trp960Ter
XM_011521377.1:c.2880G>A	XP_011519679.1:p.Trp960Ter
XM_011521378.1:c.2880G>A	XP_011519680.1:p.Trp960Ter
XM_011521379.1:c.2880G>A	XP_011519681.1:p.Trp960Ter
XM_011521380.1:c.921G>A	XP_011519682.1:p.Trp307Ter
XM_011521381.1:c.915G>A	XP_011519683.1:p.Trp305Ter
XR_931769.1:n.3845G>A
XR_931770.1:n.3845G>A
XR_931771.1:n.3845G>A
XR_931772.1:n.3845G>A
XR_931773.1:n.3845G>A
XR_931774.1:n.3845G>A
XR_931775.1:n.3845G>A
XM_006720437.3:c.2880G>A	XP_006720500.1:p.Trp960Ter
XM_011521373.3:c.2880G>A	XP_011519675.1:p.Trp960Ter
XM_011521374.3:c.2880G>A	XP_011519676.1:p.Trp960Ter
XM_011521375.3:c.2880G>A	XP_011519677.1:p.Trp960Ter
XM_011521378.3:c.2880G>A	XP_011519680.1:p.Trp960Ter
XM_011521379.3:c.2880G>A	XP_011519681.1:p.Trp960Ter
XM_011521381.2:c.915G>A	XP_011519683.1:p.Trp305Ter
XM_017022015.1:c.915G>A	XP_016877504.1:p.Trp305Ter
XM_024449875.1:c.2880G>A	XP_024305643.1:p.Trp960Ter
XR_001751153.2:n.3831G>A
XR_931769.3:n.3831G>A
XR_931770.3:n.3831G>A
XR_931775.3:n.3831G>A
NM_001194998.2:c.2880G>A MANE Select	NP_001181927.1:p.Trp960Ter
NM_014985.4:c.2880G>A	NP_055800.2:p.Trp960Ter