Canonical Allele Identifier: CA2175628290
Community Standard Title: NM_001194998.2(CEP152):c.3317T= (p.Val1106=)
Gene: CEP152 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48755931A= , CM000677.2:g.48755931A= GRCh38
NC_000015.9:g.49048128A= , CM000677.1:g.49048128A= GRCh37
NC_000015.8:g.46835420A= NCBI36
NG_027518.1:g.60216T=
NG_027518.2:g.60216T=

Transcript Alleles

HGVS Amino-acid Change
NM_001194998.2:c.3317T= MANE Select NP_001181927.1:p.Val1106=
ENST00000380950.7:c.3317T= MANE Select ENSP00000370337.2:p.Val1106=
NM_001194998.1:c.3317T= NP_001181927.1:p.Val1106=
NM_014985.3:c.3317T= NP_055800.2:p.Val1106=
NM_014985.4:c.3317T= NP_055800.2:p.Val1106=
ENST00000325747.9:c.3038T= ENSP00000321000.5:p.Val1013=
ENST00000380950.6:c.3317T= ENSP00000370337.2:p.Val1106=
ENST00000399334.7:c.3317T= ENSP00000382271.3:p.Val1106=
XM_006720437.2:c.3317T= XP_006720500.1:p.Val1106=
XM_006720437.3:c.3317T= XP_006720500.1:p.Val1106=
XM_011521373.1:c.3317T= XP_011519675.1:p.Val1106=
XM_011521373.3:c.3317T= XP_011519675.1:p.Val1106=
XM_011521374.1:c.3317T= XP_011519676.1:p.Val1106=
XM_011521374.3:c.3317T= XP_011519676.1:p.Val1106=
XM_011521375.1:c.3317T= XP_011519677.1:p.Val1106=
XM_011521375.3:c.3317T= XP_011519677.1:p.Val1106=
XM_011521376.1:c.3317T= XP_011519678.1:p.Val1106=
XM_011521377.1:c.3317T= XP_011519679.1:p.Val1106=
XM_011521378.1:c.3317T= XP_011519680.1:p.Val1106=
XM_011521378.3:c.3317T= XP_011519680.1:p.Val1106=
XM_011521379.1:c.3317T= XP_011519681.1:p.Val1106=
XM_011521379.3:c.3317T= XP_011519681.1:p.Val1106=
XM_011521380.1:c.1358T= XP_011519682.1:p.Val453=
XM_011521381.1:c.1352T= XP_011519683.1:p.Val451=
XM_011521381.2:c.1352T= XP_011519683.1:p.Val451=
XM_017022015.1:c.1352T= XP_016877504.1:p.Val451=
XM_024449875.1:c.3317T= XP_024305643.1:p.Val1106=
XR_001751153.2:n.4268T=
XR_931769.1:n.4282T=
XR_931769.3:n.4268T=
XR_931770.1:n.4282T=
XR_931770.3:n.4268T=
XR_931771.1:n.4282T=
XR_931772.1:n.4282T=
XR_931773.1:n.4282T=
XR_931774.1:n.4282T=
XR_931775.1:n.4282T=
XR_931775.3:n.4268T=