Canonical Allele Identifier: CA10642128

Gene: CEP152

Linked Data

• ClinVar Variation Id: 316438
• ClinVar RCV Id: RCV000287069 ; RCV000400521
• dbSNP Id: rs548247909
• gnomAD v2: 15-49103280-G-A
• gnomAD v3: 15-48811083-G-A
• gnomAD v4: 15-48811083-G-A
• MyVariant Identifiers: chr15:g.49103280G>A (hg19) ; chr15:g.48811083G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48811083G>A , CM000677.2:g.48811083G>A	GRCh38
NC_000015.9:g.49103280G>A , CM000677.1:g.49103280G>A	GRCh37
NC_000015.8:g.46890572G>A	NCBI36
NG_027518.1:g.5064C>T
NG_027518.2:g.5064C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380950.6:c.-130C>T	ENSP00000370337.2:n.-130C>T
ENST00000560322.5:c.-130C>T	ENSP00000453440.1:n.-130C>T
NM_001194998.1:c.-130C>T	NP_001181927.1:n.-130C>T
NM_014985.3:c.-130C>T	NP_055800.2:n.-130C>T
XM_011521373.1:c.-130C>T	XP_011519675.1:n.-130C>T
XM_011521374.1:c.-130C>T	XP_011519676.1:n.-130C>T
XM_011521375.1:c.-130C>T	XP_011519677.1:n.-130C>T
XM_011521376.1:c.-130C>T	XP_011519678.1:n.-130C>T
XM_011521377.1:c.-130C>T	XP_011519679.1:n.-130C>T
XM_011521378.1:c.-130C>T	XP_011519680.1:n.-130C>T
XM_011521379.1:c.-130C>T	XP_011519681.1:n.-130C>T
XR_931769.1:n.836C>T
XR_931770.1:n.836C>T
XR_931771.1:n.836C>T
XR_931772.1:n.836C>T
XR_931773.1:n.836C>T
XR_931774.1:n.836C>T
XR_931775.1:n.836C>T
XM_011521373.3:c.-130C>T	XP_011519675.1:n.-130C>T
XM_011521374.3:c.-130C>T	XP_011519676.1:n.-130C>T
XM_011521375.3:c.-130C>T	XP_011519677.1:n.-130C>T
XM_011521378.3:c.-130C>T	XP_011519680.1:n.-130C>T
XM_011521379.3:c.-130C>T	XP_011519681.1:n.-130C>T
XM_017022016.2:c.-130C>T	XP_016877505.1:n.-130C>T
XM_024449875.1:c.-130C>T	XP_024305643.1:n.-130C>T
XR_001751153.2:n.822C>T
XR_931769.3:n.822C>T
XR_931770.3:n.822C>T
XR_931775.3:n.822C>T