Canonical Allele Identifier: CA2392640228
Gene: PCNT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.46367021T= , CM000683.2:g.46367021T= GRCh38
NC_000021.8:g.47786936T= , CM000683.1:g.47786936T= GRCh37
NC_000021.7:g.46611364T= NCBI36
NG_008961.1:g.47901T=
NG_008961.2:g.47900T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000466474.6:c.*1543T= ENSP00000511987.1:n.*1543T=
ENST00000695525.1:n.3133T=
ENST00000695558.1:c.3047T= ENSP00000512015.1:p.Leu1016=
ENST00000703224.1:c.*2290T= ENSP00000515242.1:n.*2290T=
ENST00000359568.10:c.3047T= MANE Select ENSP00000352572.5:p.Leu1016=
ENST00000359568.9:c.3047T= ENSP00000352572.5:p.Leu1016=
ENST00000480896.5:n.3316T=
NM_001315529.1:c.2693T= NP_001302458.1:p.Leu898=
NM_006031.5:c.3047T= NP_006022.3:p.Leu1016=
XM_005261124.3:c.3047T= XP_005261181.1:p.Leu1016=
XM_011529593.1:c.3128T= XP_011527895.1:p.Leu1043=
XM_011529594.1:c.3128T= XP_011527896.1:p.Leu1043=
XM_005261124.5:c.3047T= XP_005261181.1:p.Leu1016=
XM_011529594.3:c.3128T= XP_011527896.1:p.Leu1043=
XM_017028362.2:c.3047T= XP_016883851.1:p.Leu1016=
XM_017028363.1:c.2693T= XP_016883852.1:p.Leu898=
XM_024452082.1:c.1931T= XP_024307850.1:p.Leu644=
XM_024452083.1:c.827T= XP_024307851.1:p.Leu276=
NM_006031.6:c.3047T= MANE Select NP_006022.3:p.Leu1016=
NM_001315529.2:c.2693T= NP_001302458.1:p.Leu898=