Canonical Allele Identifier: CA392342548

Gene: CEP152

Linked Data

• MyVariant Identifiers: chr15:g.49048333C>A (hg19) ; chr15:g.48756136C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48756136C>A , CM000677.2:g.48756136C>A	GRCh38
NC_000015.9:g.49048333C>A , CM000677.1:g.49048333C>A	GRCh37
NC_000015.8:g.46835625C>A	NCBI36
NG_027518.1:g.60011G>T
NG_027518.2:g.60011G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380950.7:c.3112G>T MANE Select	ENSP00000370337.2:p.Glu1038Ter
ENST00000325747.9:c.2833G>T	ENSP00000321000.5:p.Glu945Ter
ENST00000380950.6:c.3112G>T	ENSP00000370337.2:p.Glu1038Ter
ENST00000399334.7:c.3112G>T	ENSP00000382271.3:p.Glu1038Ter
NM_001194998.1:c.3112G>T	NP_001181927.1:p.Glu1038Ter
NM_014985.3:c.3112G>T	NP_055800.2:p.Glu1038Ter
XM_006720437.2:c.3112G>T	XP_006720500.1:p.Glu1038Ter
XM_011521373.1:c.3112G>T	XP_011519675.1:p.Glu1038Ter
XM_011521374.1:c.3112G>T	XP_011519676.1:p.Glu1038Ter
XM_011521375.1:c.3112G>T	XP_011519677.1:p.Glu1038Ter
XM_011521376.1:c.3112G>T	XP_011519678.1:p.Glu1038Ter
XM_011521377.1:c.3112G>T	XP_011519679.1:p.Glu1038Ter
XM_011521378.1:c.3112G>T	XP_011519680.1:p.Glu1038Ter
XM_011521379.1:c.3112G>T	XP_011519681.1:p.Glu1038Ter
XM_011521380.1:c.1153G>T	XP_011519682.1:p.Glu385Ter
XM_011521381.1:c.1147G>T	XP_011519683.1:p.Glu383Ter
XR_931769.1:n.4077G>T
XR_931770.1:n.4077G>T
XR_931771.1:n.4077G>T
XR_931772.1:n.4077G>T
XR_931773.1:n.4077G>T
XR_931774.1:n.4077G>T
XR_931775.1:n.4077G>T
XM_006720437.3:c.3112G>T	XP_006720500.1:p.Glu1038Ter
XM_011521373.3:c.3112G>T	XP_011519675.1:p.Glu1038Ter
XM_011521374.3:c.3112G>T	XP_011519676.1:p.Glu1038Ter
XM_011521375.3:c.3112G>T	XP_011519677.1:p.Glu1038Ter
XM_011521378.3:c.3112G>T	XP_011519680.1:p.Glu1038Ter
XM_011521379.3:c.3112G>T	XP_011519681.1:p.Glu1038Ter
XM_011521381.2:c.1147G>T	XP_011519683.1:p.Glu383Ter
XM_017022015.1:c.1147G>T	XP_016877504.1:p.Glu383Ter
XM_024449875.1:c.3112G>T	XP_024305643.1:p.Glu1038Ter
XR_001751153.2:n.4063G>T
XR_931769.3:n.4063G>T
XR_931770.3:n.4063G>T
XR_931775.3:n.4063G>T
NM_001194998.2:c.3112G>T MANE Select	NP_001181927.1:p.Glu1038Ter
NM_014985.4:c.3112G>T	NP_055800.2:p.Glu1038Ter