Canonical Allele Identifier: CA171734

Gene: CEP152

Linked Data

• ClinVar Variation Id: 158267
• ClinVar RCV Id: RCV000145640 ; RCV000351872 ; RCV000313409 ; RCV000890183 ; RCV004532650
• dbSNP Id: rs74986073
• ExAC: 15:49030722 A / G
• gnomAD v2: 15-49030722-A-G
• gnomAD v3: 15-48738525-A-G
• gnomAD v4: 15-48738525-A-G
• MyVariant Identifiers: chr15:g.49030722A>G (hg19) ; chr15:g.48738525A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48738525A>G , CM000677.2:g.48738525A>G	GRCh38
NC_000015.9:g.49030722A>G , CM000677.1:g.49030722A>G	GRCh37
NC_000015.8:g.46818014A>G	NCBI36
NG_027518.1:g.77622T>C
NG_027518.2:g.77622T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380950.7:c.4857T>C MANE Select	ENSP00000370337.2:p.Asp1619=
ENST00000380950.6:c.4857T>C	ENSP00000370337.2:p.Asp1619=
ENST00000399334.7:c.4689T>C	ENSP00000382271.3:p.Asp1563=
ENST00000561245.1:c.142+3106T>C	ENSP00000453591.1:n.142+3106T>C
NM_001194998.1:c.4857T>C	NP_001181927.1:p.Asp1619=
NM_014985.3:c.4689T>C	NP_055800.2:p.Asp1563=
XM_006720437.2:c.4857T>C	XP_006720500.1:p.Asp1619=
XM_011521373.1:c.4827T>C	XP_011519675.1:p.Asp1609=
XM_011521374.1:c.4093+3076T>C	XP_011519676.1:n.4093+3076T>C
XM_011521375.1:c.4064-1304T>C	XP_011519677.1:n.4064-1304T>C
XM_011521376.1:c.4063+3106T>C	XP_011519678.1:n.4063+3106T>C
XM_011521378.1:c.4063+3106T>C	XP_011519680.1:n.4063+3106T>C
XM_011521380.1:c.2898T>C	XP_011519682.1:p.Asp966=
XM_011521381.1:c.2892T>C	XP_011519683.1:p.Asp964=
XR_931769.1:n.5029-1304T>C
XR_931770.1:n.5058+3076T>C
XR_931771.1:n.5058+3076T>C
XR_931772.1:n.5058+3076T>C
XR_931773.1:n.5058+3076T>C
XR_931774.1:n.5058+3076T>C
XR_931775.1:n.5028+3106T>C
XM_006720437.3:c.4857T>C	XP_006720500.1:p.Asp1619=
XM_011521373.3:c.4827T>C	XP_011519675.1:p.Asp1609=
XM_011521374.3:c.4093+3076T>C	XP_011519676.1:n.4093+3076T>C
XM_011521375.3:c.4064-1304T>C	XP_011519677.1:n.4064-1304T>C
XM_011521378.3:c.4063+3106T>C	XP_011519680.1:n.4063+3106T>C
XM_011521379.3:c.*727T>C	XP_011519681.1:n.*727T>C
XM_011521381.2:c.2892T>C	XP_011519683.1:p.Asp964=
XM_017022015.1:c.2892T>C	XP_016877504.1:p.Asp964=
XM_024449875.1:c.4659T>C	XP_024305643.1:p.Asp1553=
XR_001751153.2:n.5014+3106T>C
XR_931769.3:n.5015-1304T>C
XR_931770.3:n.5044+3076T>C
XR_931775.3:n.5014+3106T>C
NM_001194998.2:c.4857T>C MANE Select	NP_001181927.1:p.Asp1619=
NM_014985.4:c.4689T>C	NP_055800.2:p.Asp1563=