Canonical Allele Identifier: CA7548911

Gene: CEP152

Linked Data

• ClinVar Variation Id: 316425
• ClinVar RCV Id: RCV000352285 ; RCV000406807 ; RCV002056468
• dbSNP Id: rs377258492
• ExAC: 15:49076306 G / A
• gnomAD v2: 15-49076306-G-A
• gnomAD v3: 15-48784109-G-A
• gnomAD v4: 15-48784109-G-A
• MyVariant Identifiers: chr15:g.49076306G>A (hg19) ; chr15:g.48784109G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48784109G>A , CM000677.2:g.48784109G>A	GRCh38
NC_000015.9:g.49076306G>A , CM000677.1:g.49076306G>A	GRCh37
NC_000015.8:g.46863598G>A	NCBI36
NG_027518.1:g.32038C>T
NG_027518.2:g.32038C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380950.7:c.1185C>T MANE Select	ENSP00000370337.2:p.Cys395=
ENST00000325747.9:c.906C>T	ENSP00000321000.5:p.Cys302=
ENST00000380950.6:c.1185C>T	ENSP00000370337.2:p.Cys395=
ENST00000399334.7:c.1185C>T	ENSP00000382271.3:p.Cys395=
ENST00000558337.1:n.298C>T
ENST00000560322.5:c.1185C>T	ENSP00000453440.1:p.Cys395=
NM_001194998.1:c.1185C>T	NP_001181927.1:p.Cys395=
NM_014985.3:c.1185C>T	NP_055800.2:p.Cys395=
XM_006720437.2:c.1185C>T	XP_006720500.1:p.Cys395=
XM_011521373.1:c.1185C>T	XP_011519675.1:p.Cys395=
XM_011521374.1:c.1185C>T	XP_011519676.1:p.Cys395=
XM_011521375.1:c.1185C>T	XP_011519677.1:p.Cys395=
XM_011521376.1:c.1185C>T	XP_011519678.1:p.Cys395=
XM_011521377.1:c.1185C>T	XP_011519679.1:p.Cys395=
XM_011521378.1:c.1185C>T	XP_011519680.1:p.Cys395=
XM_011521379.1:c.1185C>T	XP_011519681.1:p.Cys395=
XR_243149.2:n.581G>A
XR_931769.1:n.2150C>T
XR_931770.1:n.2150C>T
XR_931771.1:n.2150C>T
XR_931772.1:n.2150C>T
XR_931773.1:n.2150C>T
XR_931774.1:n.2150C>T
XR_931775.1:n.2150C>T
XR_932212.1:n.628G>A
XM_006720437.3:c.1185C>T	XP_006720500.1:p.Cys395=
XM_011521373.3:c.1185C>T	XP_011519675.1:p.Cys395=
XM_011521374.3:c.1185C>T	XP_011519676.1:p.Cys395=
XM_011521375.3:c.1185C>T	XP_011519677.1:p.Cys395=
XM_011521378.3:c.1185C>T	XP_011519680.1:p.Cys395=
XM_011521379.3:c.1185C>T	XP_011519681.1:p.Cys395=
XM_017022016.2:c.1185C>T	XP_016877505.1:p.Cys395=
XM_024449875.1:c.1185C>T	XP_024305643.1:p.Cys395=
XR_001751153.2:n.2136C>T
XR_931769.3:n.2136C>T
XR_931770.3:n.2136C>T
XR_931775.3:n.2136C>T
NM_001194998.2:c.1185C>T MANE Select	NP_001181927.1:p.Cys395=
NM_014985.4:c.1185C>T	NP_055800.2:p.Cys395=