Canonical Allele Identifier: CA410580035
Gene: PCNT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.46399660C>A , CM000683.2:g.46399660C>A GRCh38
NC_000021.8:g.47819574C>A , CM000683.1:g.47819574C>A GRCh37
NC_000021.7:g.46644002C>A NCBI36
NG_008961.1:g.80539C>A
NG_008961.2:g.80539C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000695558.1:c.4688C>A ENSP00000512015.1:p.Ser1563Ter
ENST00000703224.1:c.*3898C>A ENSP00000515242.1:n.*3898C>A
ENST00000359568.10:c.4655C>A MANE Select ENSP00000352572.5:p.Ser1552Ter
ENST00000359568.9:c.4655C>A ENSP00000352572.5:p.Ser1552Ter
ENST00000480896.5:n.4924C>A
NM_001315529.1:c.4301C>A NP_001302458.1:p.Ser1434Ter
NM_006031.5:c.4655C>A NP_006022.3:p.Ser1552Ter
XM_005261124.3:c.4688C>A XP_005261181.1:p.Ser1563Ter
XM_011529593.1:c.4766C>A XP_011527895.1:p.Ser1589Ter
XM_011529594.1:c.4736C>A XP_011527896.1:p.Ser1579Ter
XM_005261124.5:c.4688C>A XP_005261181.1:p.Ser1563Ter
XM_011529594.3:c.4736C>A XP_011527896.1:p.Ser1579Ter
XM_017028362.2:c.4655C>A XP_016883851.1:p.Ser1552Ter
XM_017028363.1:c.4334C>A XP_016883852.1:p.Ser1445Ter
XM_024452082.1:c.3572C>A XP_024307850.1:p.Ser1191Ter
XM_024452083.1:c.2468C>A XP_024307851.1:p.Ser823Ter
NM_006031.6:c.4655C>A MANE Select NP_006022.3:p.Ser1552Ter
NM_001315529.2:c.4301C>A NP_001302458.1:p.Ser1434Ter