Canonical Allele Identifier: CA7548098

Gene: CEP152

Linked Data

• ClinVar Variation Id: 316409
• ClinVar RCV Id: RCV000298276 ; RCV000406714 ; RCV003546519
• dbSNP Id: rs370000548
• ExAC: 15:49031154 C / T
• gnomAD v2: 15-49031154-C-T
• gnomAD v3: 15-48738957-C-T
• gnomAD v4: 15-48738957-C-T
• MyVariant Identifiers: chr15:g.49031154C>T (hg19) ; chr15:g.48738957C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48738957C>T , CM000677.2:g.48738957C>T	GRCh38
NC_000015.9:g.49031154C>T , CM000677.1:g.49031154C>T	GRCh37
NC_000015.8:g.46818446C>T	NCBI36
NG_027518.1:g.77190G>A
NG_027518.2:g.77190G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380950.7:c.4425G>A MANE Select	ENSP00000370337.2:p.Leu1475=
ENST00000380950.6:c.4425G>A	ENSP00000370337.2:p.Leu1475=
ENST00000399334.7:c.4257G>A	ENSP00000382271.3:p.Leu1419=
ENST00000561245.1:c.142+2674G>A	ENSP00000453591.1:n.142+2674G>A
NM_001194998.1:c.4425G>A	NP_001181927.1:p.Leu1475=
NM_014985.3:c.4257G>A	NP_055800.2:p.Leu1419=
XM_006720437.2:c.4425G>A	XP_006720500.1:p.Leu1475=
XM_011521373.1:c.4395G>A	XP_011519675.1:p.Leu1465=
XM_011521374.1:c.4093+2644G>A	XP_011519676.1:n.4093+2644G>A
XM_011521375.1:c.4064-1736G>A	XP_011519677.1:n.4064-1736G>A
XM_011521376.1:c.4063+2674G>A	XP_011519678.1:n.4063+2674G>A
XM_011521378.1:c.4063+2674G>A	XP_011519680.1:n.4063+2674G>A
XM_011521380.1:c.2466G>A	XP_011519682.1:p.Leu822=
XM_011521381.1:c.2460G>A	XP_011519683.1:p.Leu820=
XR_931769.1:n.5029-1736G>A
XR_931770.1:n.5058+2644G>A
XR_931771.1:n.5058+2644G>A
XR_931772.1:n.5058+2644G>A
XR_931773.1:n.5058+2644G>A
XR_931774.1:n.5058+2644G>A
XR_931775.1:n.5028+2674G>A
XM_006720437.3:c.4425G>A	XP_006720500.1:p.Leu1475=
XM_011521373.3:c.4395G>A	XP_011519675.1:p.Leu1465=
XM_011521374.3:c.4093+2644G>A	XP_011519676.1:n.4093+2644G>A
XM_011521375.3:c.4064-1736G>A	XP_011519677.1:n.4064-1736G>A
XM_011521378.3:c.4063+2674G>A	XP_011519680.1:n.4063+2674G>A
XM_011521379.3:c.*295G>A	XP_011519681.1:n.*295G>A
XM_011521381.2:c.2460G>A	XP_011519683.1:p.Leu820=
XM_017022015.1:c.2460G>A	XP_016877504.1:p.Leu820=
XM_024449875.1:c.4227G>A	XP_024305643.1:p.Leu1409=
XR_001751153.2:n.5014+2674G>A
XR_931769.3:n.5015-1736G>A
XR_931770.3:n.5044+2644G>A
XR_931775.3:n.5014+2674G>A
NM_001194998.2:c.4425G>A MANE Select	NP_001181927.1:p.Leu1475=
NM_014985.4:c.4257G>A	NP_055800.2:p.Leu1419=