Canonical Allele Identifier: CA410556276
Gene: PCNT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.46411792C>T , CM000683.2:g.46411792C>T GRCh38
NC_000021.8:g.47831706C>T , CM000683.1:g.47831706C>T GRCh37
NC_000021.7:g.46656134C>T NCBI36
NG_008961.1:g.92671C>T
NG_008961.2:g.92671C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000695527.1:n.64C>T
ENST00000695558.1:c.5752C>T ENSP00000512015.1:p.Gln1918Ter
ENST00000703224.1:c.*4962C>T ENSP00000515242.1:n.*4962C>T
ENST00000359568.10:c.5719C>T MANE Select ENSP00000352572.5:p.Gln1907Ter
ENST00000359568.9:c.5719C>T ENSP00000352572.5:p.Gln1907Ter
ENST00000480896.5:n.5988C>T
NM_001315529.1:c.5365C>T NP_001302458.1:p.Gln1789Ter
NM_006031.5:c.5719C>T NP_006022.3:p.Gln1907Ter
XM_005261124.3:c.5752C>T XP_005261181.1:p.Gln1918Ter
XM_011529593.1:c.5830C>T XP_011527895.1:p.Gln1944Ter
XM_011529594.1:c.5800C>T XP_011527896.1:p.Gln1934Ter
XM_005261124.5:c.5752C>T XP_005261181.1:p.Gln1918Ter
XM_011529594.3:c.5800C>T XP_011527896.1:p.Gln1934Ter
XM_017028362.2:c.5719C>T XP_016883851.1:p.Gln1907Ter
XM_017028363.1:c.5398C>T XP_016883852.1:p.Gln1800Ter
XM_024452082.1:c.4636C>T XP_024307850.1:p.Gln1546Ter
XM_024452083.1:c.3532C>T XP_024307851.1:p.Gln1178Ter
NM_006031.6:c.5719C>T MANE Select NP_006022.3:p.Gln1907Ter
NM_001315529.2:c.5365C>T NP_001302458.1:p.Gln1789Ter