Canonical Allele Identifier: CA2392678672
Gene: PCNT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.46435935T= , CM000683.2:g.46435935T= GRCh38
NC_000021.8:g.47855848T= , CM000683.1:g.47855848T= GRCh37
NC_000021.7:g.46680276T= NCBI36
NG_008961.1:g.116813T=
NG_008961.2:g.116814T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000418394.2:c.1365T=
ENST00000695527.1:n.3128T=
ENST00000695528.1:c.2816T= ENSP00000511990.1:p.Leu939=
ENST00000695529.1:n.2579T=
ENST00000695530.1:c.1365T=
ENST00000695531.1:n.2385T=
ENST00000695532.1:n.2385T=
ENST00000695533.1:n.1453T=
ENST00000695534.1:n.1177T=
ENST00000695535.1:n.258T=
ENST00000695558.1:c.8816T= ENSP00000512015.1:p.Leu2939=
ENST00000703224.1:c.*8026T= ENSP00000515242.1:n.*8026T=
ENST00000703226.1:n.1453T=
ENST00000359568.10:c.8783T= MANE Select ENSP00000352572.5:p.Leu2928=
ENST00000359568.9:c.8783T= ENSP00000352572.5:p.Leu2928=
ENST00000480896.5:n.8815T=
NM_001315529.1:c.8192T= NP_001302458.1:p.Leu2731=
NM_006031.5:c.8783T= NP_006022.3:p.Leu2928=
XM_005261124.3:c.8816T= XP_005261181.1:p.Leu2939=
XM_011529593.1:c.8894T= XP_011527895.1:p.Leu2965=
XM_011529594.1:c.8864T= XP_011527896.1:p.Leu2955=
XM_005261124.5:c.8816T= XP_005261181.1:p.Leu2939=
XM_011529594.3:c.8864T= XP_011527896.1:p.Leu2955=
XM_017028362.2:c.8546T= XP_016883851.1:p.Leu2849=
XM_017028363.1:c.8462T= XP_016883852.1:p.Leu2821=
XM_024452082.1:c.7700T= XP_024307850.1:p.Leu2567=
XM_024452083.1:c.6596T= XP_024307851.1:p.Leu2199=
NM_006031.6:c.8783T= MANE Select NP_006022.3:p.Leu2928=
NM_001315529.2:c.8192T= NP_001302458.1:p.Leu2731=