Canonical Allele Identifier: CA173125

Gene: PCNT

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46432135G>A , CM000683.2:g.46432135G>A	GRCh38
NC_000021.8:g.47852049G>A , CM000683.1:g.47852049G>A	GRCh37
NC_000021.7:g.46676477G>A	NCBI36
NG_008961.1:g.113014G>A
NG_008961.2:g.113014G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000418394.2:c.1333+157G>A
ENST00000695527.1:n.3016G>A
ENST00000695528.1:c.2704G>A	ENSP00000511990.1:p.Ala902Thr
ENST00000695529.1:n.2547+157G>A
ENST00000695530.1:c.1333+157G>A
ENST00000695531.1:n.2273G>A
ENST00000695532.1:n.2273G>A
ENST00000695533.1:n.1341G>A
ENST00000695534.1:n.1145+157G>A
ENST00000695558.1:c.8704G>A	ENSP00000512015.1:p.Ala2902Thr
ENST00000703224.1:c.*7914G>A	ENSP00000515242.1:n.*7914G>A
ENST00000703226.1:n.1341G>A
ENST00000359568.10:c.8671G>A MANE Select	ENSP00000352572.5:p.Ala2891Thr
ENST00000359568.9:c.8671G>A	ENSP00000352572.5:p.Ala2891Thr
ENST00000480896.5:n.8783+157G>A
NM_001315529.1:c.8160+157G>A	NP_001302458.1:n.8160+157G>A
NM_006031.5:c.8671G>A	NP_006022.3:p.Ala2891Thr
XM_005261124.3:c.8704G>A	XP_005261181.1:p.Ala2902Thr
XM_011529593.1:c.8782G>A	XP_011527895.1:p.Ala2928Thr
XM_011529594.1:c.8752G>A	XP_011527896.1:p.Ala2918Thr
XM_005261124.5:c.8704G>A	XP_005261181.1:p.Ala2902Thr
XM_011529594.3:c.8752G>A	XP_011527896.1:p.Ala2918Thr
XM_017028362.2:c.8514+157G>A	XP_016883851.1:n.8514+157G>A
XM_017028363.1:c.8350G>A	XP_016883852.1:p.Ala2784Thr
XM_024452082.1:c.7588G>A	XP_024307850.1:p.Ala2530Thr
XM_024452083.1:c.6484G>A	XP_024307851.1:p.Ala2162Thr
NM_006031.6:c.8671G>A MANE Select	NP_006022.3:p.Ala2891Thr
NM_001315529.2:c.8160+157G>A	NP_001302458.1:n.8160+157G>A