Canonical Allele Identifier: CA392342951

Gene: CEP152

Linked Data

• dbSNP Id: rs1595615384
• MyVariant Identifiers: chr15:g.49048445G>T (hg19) ; chr15:g.48756248G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48756248G>T , CM000677.2:g.48756248G>T	GRCh38
NC_000015.9:g.49048445G>T , CM000677.1:g.49048445G>T	GRCh37
NC_000015.8:g.46835737G>T	NCBI36
NG_027518.1:g.59899C>A
NG_027518.2:g.59899C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380950.7:c.3000C>A MANE Select	ENSP00000370337.2:p.Asp1000Glu
ENST00000325747.9:c.2721C>A	ENSP00000321000.5:p.Asp907Glu
ENST00000380950.6:c.3000C>A	ENSP00000370337.2:p.Asp1000Glu
ENST00000399334.7:c.3000C>A	ENSP00000382271.3:p.Asp1000Glu
NM_001194998.1:c.3000C>A	NP_001181927.1:p.Asp1000Glu
NM_014985.3:c.3000C>A	NP_055800.2:p.Asp1000Glu
XM_006720437.2:c.3000C>A	XP_006720500.1:p.Asp1000Glu
XM_011521373.1:c.3000C>A	XP_011519675.1:p.Asp1000Glu
XM_011521374.1:c.3000C>A	XP_011519676.1:p.Asp1000Glu
XM_011521375.1:c.3000C>A	XP_011519677.1:p.Asp1000Glu
XM_011521376.1:c.3000C>A	XP_011519678.1:p.Asp1000Glu
XM_011521377.1:c.3000C>A	XP_011519679.1:p.Asp1000Glu
XM_011521378.1:c.3000C>A	XP_011519680.1:p.Asp1000Glu
XM_011521379.1:c.3000C>A	XP_011519681.1:p.Asp1000Glu
XM_011521380.1:c.1041C>A	XP_011519682.1:p.Asp347Glu
XM_011521381.1:c.1035C>A	XP_011519683.1:p.Asp345Glu
XR_931769.1:n.3965C>A
XR_931770.1:n.3965C>A
XR_931771.1:n.3965C>A
XR_931772.1:n.3965C>A
XR_931773.1:n.3965C>A
XR_931774.1:n.3965C>A
XR_931775.1:n.3965C>A
XM_006720437.3:c.3000C>A	XP_006720500.1:p.Asp1000Glu
XM_011521373.3:c.3000C>A	XP_011519675.1:p.Asp1000Glu
XM_011521374.3:c.3000C>A	XP_011519676.1:p.Asp1000Glu
XM_011521375.3:c.3000C>A	XP_011519677.1:p.Asp1000Glu
XM_011521378.3:c.3000C>A	XP_011519680.1:p.Asp1000Glu
XM_011521379.3:c.3000C>A	XP_011519681.1:p.Asp1000Glu
XM_011521381.2:c.1035C>A	XP_011519683.1:p.Asp345Glu
XM_017022015.1:c.1035C>A	XP_016877504.1:p.Asp345Glu
XM_024449875.1:c.3000C>A	XP_024305643.1:p.Asp1000Glu
XR_001751153.2:n.3951C>A
XR_931769.3:n.3951C>A
XR_931770.3:n.3951C>A
XR_931775.3:n.3951C>A
NM_001194998.2:c.3000C>A MANE Select	NP_001181927.1:p.Asp1000Glu
NM_014985.4:c.3000C>A	NP_055800.2:p.Asp1000Glu