Canonical Allele Identifier: CA410576278
Gene: PCNT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.46390757C>T , CM000683.2:g.46390757C>T GRCh38
NC_000021.8:g.47810672C>T , CM000683.1:g.47810672C>T GRCh37
NC_000021.7:g.46635100C>T NCBI36
NG_008961.1:g.71637C>T
NG_008961.2:g.71636C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000695558.1:c.3928C>T ENSP00000512015.1:p.Gln1310Ter
ENST00000703224.1:c.*3171C>T ENSP00000515242.1:n.*3171C>T
ENST00000359568.10:c.3928C>T MANE Select ENSP00000352572.5:p.Gln1310Ter
ENST00000359568.9:c.3928C>T ENSP00000352572.5:p.Gln1310Ter
ENST00000480896.5:n.4197C>T
NM_001315529.1:c.3574C>T NP_001302458.1:p.Gln1192Ter
NM_006031.5:c.3928C>T NP_006022.3:p.Gln1310Ter
XM_005261124.3:c.3928C>T XP_005261181.1:p.Gln1310Ter
XM_011529593.1:c.4009C>T XP_011527895.1:p.Gln1337Ter
XM_011529594.1:c.4009C>T XP_011527896.1:p.Gln1337Ter
XM_005261124.5:c.3928C>T XP_005261181.1:p.Gln1310Ter
XM_011529594.3:c.4009C>T XP_011527896.1:p.Gln1337Ter
XM_017028362.2:c.3928C>T XP_016883851.1:p.Gln1310Ter
XM_017028363.1:c.3574C>T XP_016883852.1:p.Gln1192Ter
XM_024452082.1:c.2812C>T XP_024307850.1:p.Gln938Ter
XM_024452083.1:c.1708C>T XP_024307851.1:p.Gln570Ter
NM_006031.6:c.3928C>T MANE Select NP_006022.3:p.Gln1310Ter
NM_001315529.2:c.3574C>T NP_001302458.1:p.Gln1192Ter