Canonical Allele Identifier: CA2392640187
Gene: PCNT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.46366949T= , CM000683.2:g.46366949T= GRCh38
NC_000021.8:g.47786864T= , CM000683.1:g.47786864T= GRCh37
NC_000021.7:g.46611292T= NCBI36
NG_008961.1:g.47829T=
NG_008961.2:g.47828T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000466474.6:c.*1471T= ENSP00000511987.1:n.*1471T=
ENST00000695525.1:n.3061T=
ENST00000695558.1:c.2975T= ENSP00000512015.1:p.Leu992=
ENST00000703224.1:c.*2218T= ENSP00000515242.1:n.*2218T=
ENST00000359568.10:c.2975T= MANE Select ENSP00000352572.5:p.Leu992=
ENST00000359568.9:c.2975T= ENSP00000352572.5:p.Leu992=
ENST00000480896.5:n.3244T=
NM_001315529.1:c.2621T= NP_001302458.1:p.Leu874=
NM_006031.5:c.2975T= NP_006022.3:p.Leu992=
XM_005261124.3:c.2975T= XP_005261181.1:p.Leu992=
XM_011529593.1:c.3056T= XP_011527895.1:p.Leu1019=
XM_011529594.1:c.3056T= XP_011527896.1:p.Leu1019=
XM_005261124.5:c.2975T= XP_005261181.1:p.Leu992=
XM_011529594.3:c.3056T= XP_011527896.1:p.Leu1019=
XM_017028362.2:c.2975T= XP_016883851.1:p.Leu992=
XM_017028363.1:c.2621T= XP_016883852.1:p.Leu874=
XM_024452082.1:c.1859T= XP_024307850.1:p.Leu620=
XM_024452083.1:c.755T= XP_024307851.1:p.Leu252=
NM_006031.6:c.2975T= MANE Select NP_006022.3:p.Leu992=
NM_001315529.2:c.2621T= NP_001302458.1:p.Leu874=