Canonical Allele Identifier: CA410553497
Gene: PCNT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.46411516C>T , CM000683.2:g.46411516C>T GRCh38
NC_000021.8:g.47831430C>T , CM000683.1:g.47831430C>T GRCh37
NC_000021.7:g.46655858C>T NCBI36
NG_008961.1:g.92395C>T
NG_008961.2:g.92395C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000695558.1:c.5476C>T ENSP00000512015.1:p.Gln1826Ter
ENST00000703224.1:c.*4686C>T ENSP00000515242.1:n.*4686C>T
ENST00000359568.10:c.5443C>T MANE Select ENSP00000352572.5:p.Gln1815Ter
ENST00000359568.9:c.5443C>T ENSP00000352572.5:p.Gln1815Ter
ENST00000480896.5:n.5712C>T
NM_001315529.1:c.5089C>T NP_001302458.1:p.Gln1697Ter
NM_006031.5:c.5443C>T NP_006022.3:p.Gln1815Ter
XM_005261124.3:c.5476C>T XP_005261181.1:p.Gln1826Ter
XM_011529593.1:c.5554C>T XP_011527895.1:p.Gln1852Ter
XM_011529594.1:c.5524C>T XP_011527896.1:p.Gln1842Ter
XM_005261124.5:c.5476C>T XP_005261181.1:p.Gln1826Ter
XM_011529594.3:c.5524C>T XP_011527896.1:p.Gln1842Ter
XM_017028362.2:c.5443C>T XP_016883851.1:p.Gln1815Ter
XM_017028363.1:c.5122C>T XP_016883852.1:p.Gln1708Ter
XM_024452082.1:c.4360C>T XP_024307850.1:p.Gln1454Ter
XM_024452083.1:c.3256C>T XP_024307851.1:p.Gln1086Ter
NM_006031.6:c.5443C>T MANE Select NP_006022.3:p.Gln1815Ter
NM_001315529.2:c.5089C>T NP_001302458.1:p.Gln1697Ter