Canonical Allele Identifier: CA173087
Gene: PCNT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.46427654G>A , CM000683.2:g.46427654G>A GRCh38
NC_000021.8:g.47847568G>A , CM000683.1:g.47847568G>A GRCh37
NC_000021.7:g.46671996G>A NCBI36
NG_008961.1:g.108533G>A
NG_008961.2:g.108533G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000418394.2:c.172G>A
ENST00000695527.1:n.1698G>A
ENST00000695528.1:c.1386G>A ENSP00000511990.1:p.Gly462=
ENST00000695529.1:n.1386G>A
ENST00000695530.1:c.172G>A
ENST00000695531.1:n.955G>A
ENST00000695532.1:n.955G>A
ENST00000695558.1:c.7386G>A ENSP00000512015.1:p.Gly2462=
ENST00000703224.1:c.*6596G>A ENSP00000515242.1:n.*6596G>A
ENST00000359568.10:c.7353G>A MANE Select ENSP00000352572.5:p.Gly2451=
ENST00000359568.9:c.7353G>A ENSP00000352572.5:p.Gly2451=
ENST00000480896.5:n.7622G>A
NM_001315529.1:c.6999G>A NP_001302458.1:p.Gly2333=
NM_006031.5:c.7353G>A NP_006022.3:p.Gly2451=
XM_005261124.3:c.7386G>A XP_005261181.1:p.Gly2462=
XM_011529593.1:c.7464G>A XP_011527895.1:p.Gly2488=
XM_011529594.1:c.7434G>A XP_011527896.1:p.Gly2478=
XM_005261124.5:c.7386G>A XP_005261181.1:p.Gly2462=
XM_011529594.3:c.7434G>A XP_011527896.1:p.Gly2478=
XM_017028362.2:c.7353G>A XP_016883851.1:p.Gly2451=
XM_017028363.1:c.7032G>A XP_016883852.1:p.Gly2344=
XM_024452082.1:c.6270G>A XP_024307850.1:p.Gly2090=
XM_024452083.1:c.5166G>A XP_024307851.1:p.Gly1722=
NM_006031.6:c.7353G>A MANE Select NP_006022.3:p.Gly2451=
NM_001315529.2:c.6999G>A NP_001302458.1:p.Gly2333=