Canonical Allele Identifier: CA7548145

Gene: CEP152

Linked Data

• ClinVar Variation Id: 316410
• ClinVar RCV Id: RCV000302321 ; RCV000359376 ; RCV000615415 ; RCV002056465 ; RCV004544564
• dbSNP Id: rs186930123
• ExAC: 15:49031404 A / G
• gnomAD v2: 15-49031404-A-G
• gnomAD v3: 15-48739207-A-G
• gnomAD v4: 15-48739207-A-G
• MyVariant Identifiers: chr15:g.49031404A>G (hg19) ; chr15:g.48739207A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48739207A>G , CM000677.2:g.48739207A>G	GRCh38
NC_000015.9:g.49031404A>G , CM000677.1:g.49031404A>G	GRCh37
NC_000015.8:g.46818696A>G	NCBI36
NG_027518.1:g.76940T>C
NG_027518.2:g.76940T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380950.7:c.4175T>C MANE Select	ENSP00000370337.2:p.Ile1392Thr
ENST00000380950.6:c.4175T>C	ENSP00000370337.2:p.Ile1392Thr
ENST00000399334.7:c.4007T>C	ENSP00000382271.3:p.Ile1336Thr
ENST00000561245.1:c.142+2424T>C	ENSP00000453591.1:n.142+2424T>C
NM_001194998.1:c.4175T>C	NP_001181927.1:p.Ile1392Thr
NM_014985.3:c.4007T>C	NP_055800.2:p.Ile1336Thr
XM_006720437.2:c.4175T>C	XP_006720500.1:p.Ile1392Thr
XM_011521373.1:c.4145T>C	XP_011519675.1:p.Ile1382Thr
XM_011521374.1:c.4093+2394T>C	XP_011519676.1:n.4093+2394T>C
XM_011521375.1:c.4064-1986T>C	XP_011519677.1:n.4064-1986T>C
XM_011521376.1:c.4063+2424T>C	XP_011519678.1:n.4063+2424T>C
XM_011521378.1:c.4063+2424T>C	XP_011519680.1:n.4063+2424T>C
XM_011521379.1:c.*45T>C	XP_011519681.1:n.*45T>C
XM_011521380.1:c.2216T>C	XP_011519682.1:p.Ile739Thr
XM_011521381.1:c.2210T>C	XP_011519683.1:p.Ile737Thr
XR_931769.1:n.5029-1986T>C
XR_931770.1:n.5058+2394T>C
XR_931771.1:n.5058+2394T>C
XR_931772.1:n.5058+2394T>C
XR_931773.1:n.5058+2394T>C
XR_931774.1:n.5058+2394T>C
XR_931775.1:n.5028+2424T>C
XM_006720437.3:c.4175T>C	XP_006720500.1:p.Ile1392Thr
XM_011521373.3:c.4145T>C	XP_011519675.1:p.Ile1382Thr
XM_011521374.3:c.4093+2394T>C	XP_011519676.1:n.4093+2394T>C
XM_011521375.3:c.4064-1986T>C	XP_011519677.1:n.4064-1986T>C
XM_011521378.3:c.4063+2424T>C	XP_011519680.1:n.4063+2424T>C
XM_011521379.3:c.*45T>C	XP_011519681.1:n.*45T>C
XM_011521381.2:c.2210T>C	XP_011519683.1:p.Ile737Thr
XM_017022015.1:c.2210T>C	XP_016877504.1:p.Ile737Thr
XM_024449875.1:c.3977T>C	XP_024305643.1:p.Ile1326Thr
XR_001751153.2:n.5014+2424T>C
XR_931769.3:n.5015-1986T>C
XR_931770.3:n.5044+2394T>C
XR_931775.3:n.5014+2424T>C
NM_001194998.2:c.4175T>C MANE Select	NP_001181927.1:p.Ile1392Thr
NM_014985.4:c.4007T>C	NP_055800.2:p.Ile1336Thr