Canonical Allele Identifier: CA211086

Gene: CEP152

Linked Data

• ClinVar Variation Id: 158270
• ClinVar RCV Id: RCV000145643 ; RCV000323485 ; RCV000380416 ; RCV000897088
• dbSNP Id: rs368764302
• ExAC: 15:49030501 G / A
• gnomAD v2: 15-49030501-G-A
• gnomAD v3: 15-48738304-G-A
• gnomAD v4: 15-48738304-G-A
• MyVariant Identifiers: chr15:g.49030501G>A (hg19) ; chr15:g.48738304G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48738304G>A , CM000677.2:g.48738304G>A	GRCh38
NC_000015.9:g.49030501G>A , CM000677.1:g.49030501G>A	GRCh37
NC_000015.8:g.46817793G>A	NCBI36
NG_027518.1:g.77843C>T
NG_027518.2:g.77843C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380950.7:c.5078C>T MANE Select	ENSP00000370337.2:p.Pro1693Leu
ENST00000380950.6:c.5078C>T	ENSP00000370337.2:p.Pro1693Leu
ENST00000399334.7:c.4910C>T	ENSP00000382271.3:p.Pro1637Leu
ENST00000561245.1:c.142+3327C>T	ENSP00000453591.1:n.142+3327C>T
NM_001194998.1:c.5078C>T	NP_001181927.1:p.Pro1693Leu
NM_014985.3:c.4910C>T	NP_055800.2:p.Pro1637Leu
XM_006720437.2:c.5078C>T	XP_006720500.1:p.Pro1693Leu
XM_011521373.1:c.5048C>T	XP_011519675.1:p.Pro1683Leu
XM_011521374.1:c.4093+3297C>T	XP_011519676.1:n.4093+3297C>T
XM_011521375.1:c.4064-1083C>T	XP_011519677.1:n.4064-1083C>T
XM_011521376.1:c.4063+3327C>T	XP_011519678.1:n.4063+3327C>T
XM_011521378.1:c.4063+3327C>T	XP_011519680.1:n.4063+3327C>T
XM_011521380.1:c.3119C>T	XP_011519682.1:p.Pro1040Leu
XM_011521381.1:c.3113C>T	XP_011519683.1:p.Pro1038Leu
XR_931769.1:n.5029-1083C>T
XR_931770.1:n.5058+3297C>T
XR_931771.1:n.5058+3297C>T
XR_931772.1:n.5058+3297C>T
XR_931773.1:n.5058+3297C>T
XR_931774.1:n.5058+3297C>T
XR_931775.1:n.5028+3327C>T
XM_006720437.3:c.5078C>T	XP_006720500.1:p.Pro1693Leu
XM_011521373.3:c.5048C>T	XP_011519675.1:p.Pro1683Leu
XM_011521374.3:c.4093+3297C>T	XP_011519676.1:n.4093+3297C>T
XM_011521375.3:c.4064-1083C>T	XP_011519677.1:n.4064-1083C>T
XM_011521378.3:c.4063+3327C>T	XP_011519680.1:n.4063+3327C>T
XM_011521381.2:c.3113C>T	XP_011519683.1:p.Pro1038Leu
XM_017022015.1:c.3113C>T	XP_016877504.1:p.Pro1038Leu
XM_024449875.1:c.4880C>T	XP_024305643.1:p.Pro1627Leu
XR_001751153.2:n.5014+3327C>T
XR_931769.3:n.5015-1083C>T
XR_931770.3:n.5044+3297C>T
XR_931775.3:n.5014+3327C>T
NM_001194998.2:c.5078C>T MANE Select	NP_001181927.1:p.Pro1693Leu
NM_014985.4:c.4910C>T	NP_055800.2:p.Pro1637Leu