Canonical Allele Identifier: CA410570153
Gene: PCNT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.46367015A>T , CM000683.2:g.46367015A>T GRCh38
NC_000021.8:g.47786930A>T , CM000683.1:g.47786930A>T GRCh37
NC_000021.7:g.46611358A>T NCBI36
NG_008961.1:g.47895A>T
NG_008961.2:g.47894A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000466474.6:c.*1537A>T ENSP00000511987.1:n.*1537A>T
ENST00000695525.1:n.3127A>T
ENST00000695558.1:c.3041A>T ENSP00000512015.1:p.Gln1014Leu
ENST00000703224.1:c.*2284A>T ENSP00000515242.1:n.*2284A>T
ENST00000359568.10:c.3041A>T MANE Select ENSP00000352572.5:p.Gln1014Leu
ENST00000359568.9:c.3041A>T ENSP00000352572.5:p.Gln1014Leu
ENST00000480896.5:n.3310A>T
NM_001315529.1:c.2687A>T NP_001302458.1:p.Gln896Leu
NM_006031.5:c.3041A>T NP_006022.3:p.Gln1014Leu
XM_005261124.3:c.3041A>T XP_005261181.1:p.Gln1014Leu
XM_011529593.1:c.3122A>T XP_011527895.1:p.Gln1041Leu
XM_011529594.1:c.3122A>T XP_011527896.1:p.Gln1041Leu
XM_005261124.5:c.3041A>T XP_005261181.1:p.Gln1014Leu
XM_011529594.3:c.3122A>T XP_011527896.1:p.Gln1041Leu
XM_017028362.2:c.3041A>T XP_016883851.1:p.Gln1014Leu
XM_017028363.1:c.2687A>T XP_016883852.1:p.Gln896Leu
XM_024452082.1:c.1925A>T XP_024307850.1:p.Gln642Leu
XM_024452083.1:c.821A>T XP_024307851.1:p.Gln274Leu
NM_006031.6:c.3041A>T MANE Select NP_006022.3:p.Gln1014Leu
NM_001315529.2:c.2687A>T NP_001302458.1:p.Gln896Leu