Canonical Allele Identifier: CA410567778
Community Standard Title: NM_006031.6(PCNT):c.2374C>G (p.Arg792Gly)
Gene: PCNT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.46363699C>G , CM000683.2:g.46363699C>G GRCh38
NC_000021.8:g.47783614C>G , CM000683.1:g.47783614C>G GRCh37
NC_000021.7:g.46608042C>G NCBI36
NG_008961.1:g.44579C>G
NG_008961.2:g.44578C>G

Transcript Alleles

HGVS Amino-acid Change
NM_006031.6:c.2374C>G MANE Select NP_006022.3:p.Arg792Gly
ENST00000359568.10:c.2374C>G MANE Select ENSP00000352572.5:p.Arg792Gly
NM_001315529.1:c.2020C>G NP_001302458.1:p.Arg674Gly
NM_001315529.2:c.2020C>G NP_001302458.1:p.Arg674Gly
NM_006031.5:c.2374C>G NP_006022.3:p.Arg792Gly
ENST00000359568.9:c.2374C>G ENSP00000352572.5:p.Arg792Gly
ENST00000466474.6:c.*870C>G ENSP00000511987.1:n.*870C>G
ENST00000480896.5:n.2643C>G
ENST00000695525.1:n.2460C>G
ENST00000695558.1:c.2374C>G ENSP00000512015.1:p.Arg792Gly
ENST00000703224.1:c.*1617C>G ENSP00000515242.1:n.*1617C>G
XM_005261124.3:c.2374C>G XP_005261181.1:p.Arg792Gly
XM_005261124.5:c.2374C>G XP_005261181.1:p.Arg792Gly
XM_011529593.1:c.2455C>G XP_011527895.1:p.Arg819Gly
XM_011529594.1:c.2455C>G XP_011527896.1:p.Arg819Gly
XM_011529594.3:c.2455C>G XP_011527896.1:p.Arg819Gly
XM_017028362.2:c.2374C>G XP_016883851.1:p.Arg792Gly
XM_017028363.1:c.2020C>G XP_016883852.1:p.Arg674Gly
XM_024452082.1:c.1258C>G XP_024307850.1:p.Arg420Gly
XM_024452083.1:c.154C>G XP_024307851.1:p.Arg52Gly