Canonical Allele Identifier: CA10647099

Gene: CEP152

Linked Data

• ClinVar Variation Id: 316405
• ClinVar RCV Id: RCV000262672 ; RCV000320066 ; RCV001559527
• dbSNP Id: rs2169757
• gnomAD v2: 15-49030276-A-G
• gnomAD v3: 15-48738079-A-G
• gnomAD v4: 15-48738079-A-G
• MyVariant Identifiers: chr15:g.49030276A>G (hg19) ; chr15:g.48738079A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48738079A>G , CM000677.2:g.48738079A>G	GRCh38
NC_000015.9:g.49030276A>G , CM000677.1:g.49030276A>G	GRCh37
NC_000015.8:g.46817568A>G	NCBI36
NG_027518.1:g.78068T>C
NG_027518.2:g.78068T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380950.7:c.*170T>C MANE Select	ENSP00000370337.2:n.*170T>C
ENST00000380950.6:c.*170T>C	ENSP00000370337.2:n.*170T>C
ENST00000561245.1:c.142+3552T>C	ENSP00000453591.1:n.142+3552T>C
NM_001194998.1:c.*170T>C	NP_001181927.1:n.*170T>C
NM_014985.3:c.*170T>C	NP_055800.2:n.*170T>C
XM_006720437.2:c.*170T>C	XP_006720500.1:n.*170T>C
XM_011521373.1:c.*170T>C	XP_011519675.1:n.*170T>C
XM_011521374.1:c.4093+3522T>C	XP_011519676.1:n.4093+3522T>C
XM_011521375.1:c.4064-858T>C	XP_011519677.1:n.4064-858T>C
XM_011521376.1:c.4063+3552T>C	XP_011519678.1:n.4063+3552T>C
XM_011521378.1:c.4063+3552T>C	XP_011519680.1:n.4063+3552T>C
XM_011521380.1:c.*170T>C	XP_011519682.1:n.*170T>C
XM_011521381.1:c.*170T>C	XP_011519683.1:n.*170T>C
XR_931769.1:n.5029-858T>C
XR_931770.1:n.5058+3522T>C
XR_931771.1:n.5058+3522T>C
XR_931772.1:n.5058+3522T>C
XR_931773.1:n.5058+3522T>C
XR_931774.1:n.5058+3522T>C
XR_931775.1:n.5028+3552T>C
XM_011521373.3:c.*170T>C	XP_011519675.1:n.*170T>C
XM_011521374.3:c.4093+3522T>C	XP_011519676.1:n.4093+3522T>C
XM_011521375.3:c.4064-858T>C	XP_011519677.1:n.4064-858T>C
XM_011521378.3:c.4063+3552T>C	XP_011519680.1:n.4063+3552T>C
XM_011521381.2:c.*170T>C	XP_011519683.1:n.*170T>C
XM_017022015.1:c.*170T>C	XP_016877504.1:n.*170T>C
XM_024449875.1:c.*170T>C	XP_024305643.1:n.*170T>C
XR_001751153.2:n.5014+3552T>C
XR_931769.3:n.5015-858T>C
XR_931770.3:n.5044+3522T>C
XR_931775.3:n.5014+3552T>C
NM_001194998.2:c.*170T>C MANE Select	NP_001181927.1:n.*170T>C
NM_014985.4:c.*170T>C	NP_055800.2:n.*170T>C