Canonical Allele Identifier: CA7548987

Gene: CEP152

Linked Data

• ClinVar Variation Id: 316427
• ClinVar RCV Id: RCV000268783 ; RCV000363356 ; RCV001795937 ; RCV003243072
• dbSNP Id: rs556609167
• ExAC: 15:49083444 T / C
• gnomAD v2: 15-49083444-T-C
• gnomAD v3: 15-48791247-T-C
• gnomAD v4: 15-48791247-T-C
• MyVariant Identifiers: chr15:g.49083444T>C (hg19) ; chr15:g.48791247T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48791247T>C , CM000677.2:g.48791247T>C	GRCh38
NC_000015.9:g.49083444T>C , CM000677.1:g.49083444T>C	GRCh37
NC_000015.8:g.46870736T>C	NCBI36
NG_027518.1:g.24900A>G
NG_027518.2:g.24900A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380950.7:c.962A>G MANE Select	ENSP00000370337.2:p.Asn321Ser
ENST00000325747.9:c.683A>G	ENSP00000321000.5:p.Asn228Ser
ENST00000380950.6:c.962A>G	ENSP00000370337.2:p.Asn321Ser
ENST00000399334.7:c.962A>G	ENSP00000382271.3:p.Asn321Ser
ENST00000560322.5:c.962A>G	ENSP00000453440.1:p.Asn321Ser
NM_001194998.1:c.962A>G	NP_001181927.1:p.Asn321Ser
NM_014985.3:c.962A>G	NP_055800.2:p.Asn321Ser
XM_006720437.2:c.962A>G	XP_006720500.1:p.Asn321Ser
XM_011521373.1:c.962A>G	XP_011519675.1:p.Asn321Ser
XM_011521374.1:c.962A>G	XP_011519676.1:p.Asn321Ser
XM_011521375.1:c.962A>G	XP_011519677.1:p.Asn321Ser
XM_011521376.1:c.962A>G	XP_011519678.1:p.Asn321Ser
XM_011521377.1:c.962A>G	XP_011519679.1:p.Asn321Ser
XM_011521378.1:c.962A>G	XP_011519680.1:p.Asn321Ser
XM_011521379.1:c.962A>G	XP_011519681.1:p.Asn321Ser
XR_931769.1:n.1927A>G
XR_931770.1:n.1927A>G
XR_931771.1:n.1927A>G
XR_931772.1:n.1927A>G
XR_931773.1:n.1927A>G
XR_931774.1:n.1927A>G
XR_931775.1:n.1927A>G
XM_006720437.3:c.962A>G	XP_006720500.1:p.Asn321Ser
XM_011521373.3:c.962A>G	XP_011519675.1:p.Asn321Ser
XM_011521374.3:c.962A>G	XP_011519676.1:p.Asn321Ser
XM_011521375.3:c.962A>G	XP_011519677.1:p.Asn321Ser
XM_011521378.3:c.962A>G	XP_011519680.1:p.Asn321Ser
XM_011521379.3:c.962A>G	XP_011519681.1:p.Asn321Ser
XM_017022016.2:c.962A>G	XP_016877505.1:p.Asn321Ser
XM_024449875.1:c.962A>G	XP_024305643.1:p.Asn321Ser
XR_001751153.2:n.1913A>G
XR_931769.3:n.1913A>G
XR_931770.3:n.1913A>G
XR_931775.3:n.1913A>G
NM_001194998.2:c.962A>G MANE Select	NP_001181927.1:p.Asn321Ser
NM_014985.4:c.962A>G	NP_055800.2:p.Asn321Ser