Canonical Allele Identifier: CA490311362
Gene: CEP152 HGNC NCBI

Linked Data

MyVariant Identifiers: chr15:g.49048601G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48756404G>C , CM000677.2:g.48756404G>C GRCh38
NC_000015.9:g.49048601G>C , CM000677.1:g.49048601G>C GRCh37
NC_000015.8:g.46835893G>C NCBI36
NG_027518.1:g.59743C>G
NG_027518.2:g.59743C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000380950.7:c.2844C>G MANE Select ENSP00000370337.2:p.Val948=
ENST00000325747.9:c.2565C>G ENSP00000321000.5:p.Val855=
ENST00000380950.6:c.2844C>G ENSP00000370337.2:p.Val948=
ENST00000399334.7:c.2844C>G ENSP00000382271.3:p.Val948=
NM_001194998.1:c.2844C>G NP_001181927.1:p.Val948=
NM_014985.3:c.2844C>G NP_055800.2:p.Val948=
XM_006720437.2:c.2844C>G XP_006720500.1:p.Val948=
XM_011521373.1:c.2844C>G XP_011519675.1:p.Val948=
XM_011521374.1:c.2844C>G XP_011519676.1:p.Val948=
XM_011521375.1:c.2844C>G XP_011519677.1:p.Val948=
XM_011521376.1:c.2844C>G XP_011519678.1:p.Val948=
XM_011521377.1:c.2844C>G XP_011519679.1:p.Val948=
XM_011521378.1:c.2844C>G XP_011519680.1:p.Val948=
XM_011521379.1:c.2844C>G XP_011519681.1:p.Val948=
XM_011521380.1:c.885C>G XP_011519682.1:p.Val295=
XM_011521381.1:c.879C>G XP_011519683.1:p.Val293=
XR_931769.1:n.3809C>G
XR_931770.1:n.3809C>G
XR_931771.1:n.3809C>G
XR_931772.1:n.3809C>G
XR_931773.1:n.3809C>G
XR_931774.1:n.3809C>G
XR_931775.1:n.3809C>G
XM_006720437.3:c.2844C>G XP_006720500.1:p.Val948=
XM_011521373.3:c.2844C>G XP_011519675.1:p.Val948=
XM_011521374.3:c.2844C>G XP_011519676.1:p.Val948=
XM_011521375.3:c.2844C>G XP_011519677.1:p.Val948=
XM_011521378.3:c.2844C>G XP_011519680.1:p.Val948=
XM_011521379.3:c.2844C>G XP_011519681.1:p.Val948=
XM_011521381.2:c.879C>G XP_011519683.1:p.Val293=
XM_017022015.1:c.879C>G XP_016877504.1:p.Val293=
XM_024449875.1:c.2844C>G XP_024305643.1:p.Val948=
XR_001751153.2:n.3795C>G
XR_931769.3:n.3795C>G
XR_931770.3:n.3795C>G
XR_931775.3:n.3795C>G
NM_001194998.2:c.2844C>G MANE Select NP_001181927.1:p.Val948=
NM_014985.4:c.2844C>G NP_055800.2:p.Val948=