Canonical Allele Identifier: CA10080032
Gene: PCNT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.46411655C>T , CM000683.2:g.46411655C>T GRCh38
NC_000021.8:g.47831569C>T , CM000683.1:g.47831569C>T GRCh37
NC_000021.7:g.46655997C>T NCBI36
NG_008961.1:g.92534C>T
NG_008961.2:g.92534C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000695558.1:c.5615C>T ENSP00000512015.1:p.Ala1872Val
ENST00000703224.1:c.*4825C>T ENSP00000515242.1:n.*4825C>T
ENST00000359568.10:c.5582C>T MANE Select ENSP00000352572.5:p.Ala1861Val
ENST00000359568.9:c.5582C>T ENSP00000352572.5:p.Ala1861Val
ENST00000480896.5:n.5851C>T
NM_001315529.1:c.5228C>T NP_001302458.1:p.Ala1743Val
NM_006031.5:c.5582C>T NP_006022.3:p.Ala1861Val
XM_005261124.3:c.5615C>T XP_005261181.1:p.Ala1872Val
XM_011529593.1:c.5693C>T XP_011527895.1:p.Ala1898Val
XM_011529594.1:c.5663C>T XP_011527896.1:p.Ala1888Val
XM_005261124.5:c.5615C>T XP_005261181.1:p.Ala1872Val
XM_011529594.3:c.5663C>T XP_011527896.1:p.Ala1888Val
XM_017028362.2:c.5582C>T XP_016883851.1:p.Ala1861Val
XM_017028363.1:c.5261C>T XP_016883852.1:p.Ala1754Val
XM_024452082.1:c.4499C>T XP_024307850.1:p.Ala1500Val
XM_024452083.1:c.3395C>T XP_024307851.1:p.Ala1132Val
NM_006031.6:c.5582C>T MANE Select NP_006022.3:p.Ala1861Val
NM_001315529.2:c.5228C>T NP_001302458.1:p.Ala1743Val