Canonical Allele Identifier: CA2392640192
Gene: PCNT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.46366958C= , CM000683.2:g.46366958C= GRCh38
NC_000021.8:g.47786873C= , CM000683.1:g.47786873C= GRCh37
NC_000021.7:g.46611301C= NCBI36
NG_008961.1:g.47838C=
NG_008961.2:g.47837C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000466474.6:c.*1480C= ENSP00000511987.1:n.*1480C=
ENST00000695525.1:n.3070C=
ENST00000695558.1:c.2984C= ENSP00000512015.1:p.Ala995=
ENST00000703224.1:c.*2227C= ENSP00000515242.1:n.*2227C=
ENST00000359568.10:c.2984C= MANE Select ENSP00000352572.5:p.Ala995=
ENST00000359568.9:c.2984C= ENSP00000352572.5:p.Ala995=
ENST00000480896.5:n.3253C=
NM_001315529.1:c.2630C= NP_001302458.1:p.Ala877=
NM_006031.5:c.2984C= NP_006022.3:p.Ala995=
XM_005261124.3:c.2984C= XP_005261181.1:p.Ala995=
XM_011529593.1:c.3065C= XP_011527895.1:p.Ala1022=
XM_011529594.1:c.3065C= XP_011527896.1:p.Ala1022=
XM_005261124.5:c.2984C= XP_005261181.1:p.Ala995=
XM_011529594.3:c.3065C= XP_011527896.1:p.Ala1022=
XM_017028362.2:c.2984C= XP_016883851.1:p.Ala995=
XM_017028363.1:c.2630C= XP_016883852.1:p.Ala877=
XM_024452082.1:c.1868C= XP_024307850.1:p.Ala623=
XM_024452083.1:c.764C= XP_024307851.1:p.Ala255=
NM_006031.6:c.2984C= MANE Select NP_006022.3:p.Ala995=
NM_001315529.2:c.2630C= NP_001302458.1:p.Ala877=