Canonical Allele Identifier: CA173140
Gene: PCNT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.46436997G>A , CM000683.2:g.46436997G>A GRCh38
NC_000021.8:g.47856910G>A , CM000683.1:g.47856910G>A GRCh37
NC_000021.7:g.46681338G>A NCBI36
NG_008961.1:g.117875G>A
NG_008961.2:g.117876G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000418394.2:c.1597G>A
ENST00000695527.1:n.3360G>A
ENST00000695528.1:c.3048G>A ENSP00000511990.1:p.Thr1016=
ENST00000695529.1:n.2811G>A
ENST00000695530.1:c.1597G>A
ENST00000695531.1:n.2617G>A
ENST00000695532.1:n.2617G>A
ENST00000695533.1:n.1685G>A
ENST00000695534.1:n.1409G>A
ENST00000695535.1:n.490G>A
ENST00000695536.1:n.322G>A
ENST00000695558.1:c.9048G>A ENSP00000512015.1:p.Thr3016=
ENST00000703224.1:c.*8258G>A ENSP00000515242.1:n.*8258G>A
ENST00000703226.1:n.1685G>A
ENST00000359568.10:c.9015G>A MANE Select ENSP00000352572.5:p.Thr3005=
ENST00000359568.9:c.9015G>A ENSP00000352572.5:p.Thr3005=
ENST00000480896.5:n.9047G>A
NM_001315529.1:c.8424G>A NP_001302458.1:p.Thr2808=
NM_006031.5:c.9015G>A NP_006022.3:p.Thr3005=
XM_005261124.3:c.9048G>A XP_005261181.1:p.Thr3016=
XM_011529593.1:c.9126G>A XP_011527895.1:p.Thr3042=
XM_011529594.1:c.9096G>A XP_011527896.1:p.Thr3032=
XM_005261124.5:c.9048G>A XP_005261181.1:p.Thr3016=
XM_011529594.3:c.9096G>A XP_011527896.1:p.Thr3032=
XM_017028362.2:c.8778G>A XP_016883851.1:p.Thr2926=
XM_017028363.1:c.8694G>A XP_016883852.1:p.Thr2898=
XM_024452082.1:c.7932G>A XP_024307850.1:p.Thr2644=
XM_024452083.1:c.6828G>A XP_024307851.1:p.Thr2276=
NM_006031.6:c.9015G>A MANE Select NP_006022.3:p.Thr3005=
NM_001315529.2:c.8424G>A NP_001302458.1:p.Thr2808=