Canonical Allele Identifier: CA7548187

Gene: CEP152

Linked Data

• ClinVar Variation Id: 497763
• ClinVar RCV Id: RCV000595387 ; RCV003147510
• dbSNP Id: rs201442213
• ExAC: 15:49033804 G / A
• gnomAD v2: 15-49033804-G-A
• gnomAD v3: 15-48741607-G-A
• gnomAD v4: 15-48741607-G-A
• MyVariant Identifiers: chr15:g.49033804G>A (hg19) ; chr15:g.48741607G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48741607G>A , CM000677.2:g.48741607G>A	GRCh38
NC_000015.9:g.49033804G>A , CM000677.1:g.49033804G>A	GRCh37
NC_000015.8:g.46821096G>A	NCBI36
NG_027518.1:g.74540C>T
NG_027518.2:g.74540C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380950.7:c.4087C>T MANE Select	ENSP00000370337.2:p.Gln1363Ter
ENST00000325747.9:c.3808C>T	ENSP00000321000.5:p.Gln1270Ter
ENST00000380950.6:c.4087C>T	ENSP00000370337.2:p.Gln1363Ter
ENST00000399334.7:c.3919C>T	ENSP00000382271.3:p.Gln1307Ter
ENST00000561245.1:c.142+24C>T	ENSP00000453591.1:n.142+24C>T
NM_001194998.1:c.4087C>T	NP_001181927.1:p.Gln1363Ter
NM_014985.3:c.3919C>T	NP_055800.2:p.Gln1307Ter
XM_006720437.2:c.4087C>T	XP_006720500.1:p.Gln1363Ter
XM_011521373.1:c.4063+24C>T	XP_011519675.1:n.4063+24C>T
XM_011521374.1:c.4087C>T	XP_011519676.1:p.Gln1363Ter
XM_011521375.1:c.4063+24C>T	XP_011519677.1:n.4063+24C>T
XM_011521376.1:c.4063+24C>T	XP_011519678.1:n.4063+24C>T
XM_011521377.1:c.4063+24C>T	XP_011519679.1:n.4063+24C>T
XM_011521378.1:c.4063+24C>T	XP_011519680.1:n.4063+24C>T
XM_011521379.1:c.3989+340C>T	XP_011519681.1:n.3989+340C>T
XM_011521380.1:c.2128C>T	XP_011519682.1:p.Gln710Ter
XM_011521381.1:c.2122C>T	XP_011519683.1:p.Gln708Ter
XR_931769.1:n.5028+24C>T
XR_931770.1:n.5052C>T
XR_931771.1:n.5052C>T
XR_931772.1:n.5052C>T
XR_931773.1:n.5052C>T
XR_931774.1:n.5052C>T
XR_931775.1:n.5028+24C>T
XM_006720437.3:c.4087C>T	XP_006720500.1:p.Gln1363Ter
XM_011521373.3:c.4063+24C>T	XP_011519675.1:n.4063+24C>T
XM_011521374.3:c.4087C>T	XP_011519676.1:p.Gln1363Ter
XM_011521375.3:c.4063+24C>T	XP_011519677.1:n.4063+24C>T
XM_011521378.3:c.4063+24C>T	XP_011519680.1:n.4063+24C>T
XM_011521379.3:c.3989+340C>T	XP_011519681.1:n.3989+340C>T
XM_011521381.2:c.2122C>T	XP_011519683.1:p.Gln708Ter
XM_017022015.1:c.2122C>T	XP_016877504.1:p.Gln708Ter
XM_024449875.1:c.3895+24C>T	XP_024305643.1:n.3895+24C>T
XR_001751153.2:n.5014+24C>T
XR_931769.3:n.5014+24C>T
XR_931770.3:n.5038C>T
XR_931775.3:n.5014+24C>T
NM_001194998.2:c.4087C>T MANE Select	NP_001181927.1:p.Gln1363Ter
NM_014985.4:c.3919C>T	NP_055800.2:p.Gln1307Ter