Canonical Allele Identifier: CA171741

Gene: CEP152

Linked Data

• ClinVar Variation Id: 158274
• ClinVar RCV Id: RCV000145648 ; RCV000280082 ; RCV000374581 ; RCV001668286
• dbSNP Id: rs58156069
• ExAC: 15:49083577 C / T
• gnomAD v2: 15-49083577-C-T
• gnomAD v3: 15-48791380-C-T
• gnomAD v4: 15-48791380-C-T
• MyVariant Identifiers: chr15:g.49083577C>T (hg19) ; chr15:g.48791380C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48791380C>T , CM000677.2:g.48791380C>T	GRCh38
NC_000015.9:g.49083577C>T , CM000677.1:g.49083577C>T	GRCh37
NC_000015.8:g.46870869C>T	NCBI36
NG_027518.1:g.24767G>A
NG_027518.2:g.24767G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380950.7:c.833-4G>A MANE Select	ENSP00000370337.2:n.833-4G>A
ENST00000325747.9:c.554-4G>A	ENSP00000321000.5:n.554-4G>A
ENST00000380950.6:c.833-4G>A	ENSP00000370337.2:n.833-4G>A
ENST00000399334.7:c.833-4G>A	ENSP00000382271.3:n.833-4G>A
ENST00000560322.5:c.833-4G>A	ENSP00000453440.1:n.833-4G>A
NM_001194998.1:c.833-4G>A	NP_001181927.1:n.833-4G>A
NM_014985.3:c.833-4G>A	NP_055800.2:n.833-4G>A
XM_006720437.2:c.833-4G>A	XP_006720500.1:n.833-4G>A
XM_011521373.1:c.833-4G>A	XP_011519675.1:n.833-4G>A
XM_011521374.1:c.833-4G>A	XP_011519676.1:n.833-4G>A
XM_011521375.1:c.833-4G>A	XP_011519677.1:n.833-4G>A
XM_011521376.1:c.833-4G>A	XP_011519678.1:n.833-4G>A
XM_011521377.1:c.833-4G>A	XP_011519679.1:n.833-4G>A
XM_011521378.1:c.833-4G>A	XP_011519680.1:n.833-4G>A
XM_011521379.1:c.833-4G>A	XP_011519681.1:n.833-4G>A
XR_931769.1:n.1798-4G>A
XR_931770.1:n.1798-4G>A
XR_931771.1:n.1798-4G>A
XR_931772.1:n.1798-4G>A
XR_931773.1:n.1798-4G>A
XR_931774.1:n.1798-4G>A
XR_931775.1:n.1798-4G>A
XM_006720437.3:c.833-4G>A	XP_006720500.1:n.833-4G>A
XM_011521373.3:c.833-4G>A	XP_011519675.1:n.833-4G>A
XM_011521374.3:c.833-4G>A	XP_011519676.1:n.833-4G>A
XM_011521375.3:c.833-4G>A	XP_011519677.1:n.833-4G>A
XM_011521378.3:c.833-4G>A	XP_011519680.1:n.833-4G>A
XM_011521379.3:c.833-4G>A	XP_011519681.1:n.833-4G>A
XM_017022016.2:c.833-4G>A	XP_016877505.1:n.833-4G>A
XM_024449875.1:c.833-4G>A	XP_024305643.1:n.833-4G>A
XR_001751153.2:n.1784-4G>A
XR_931769.3:n.1784-4G>A
XR_931770.3:n.1784-4G>A
XR_931775.3:n.1784-4G>A
NM_001194998.2:c.833-4G>A MANE Select	NP_001181927.1:n.833-4G>A
NM_014985.4:c.833-4G>A	NP_055800.2:n.833-4G>A