Canonical Allele Identifier: CA10080484

Gene: PCNT

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46418288G>A , CM000683.2:g.46418288G>A	GRCh38
NC_000021.8:g.47838202G>A , CM000683.1:g.47838202G>A	GRCh37
NC_000021.7:g.46662630G>A	NCBI36
NG_008961.1:g.99167G>A
NG_008961.2:g.99167G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695527.1:n.1351G>A
ENST00000695528.1:c.1180G>A	ENSP00000511990.1:p.Ala394Thr
ENST00000695529.1:n.1180G>A
ENST00000695558.1:c.7039G>A	ENSP00000512015.1:p.Ala2347Thr
ENST00000703224.1:c.*6249G>A	ENSP00000515242.1:n.*6249G>A
ENST00000359568.10:c.7006G>A MANE Select	ENSP00000352572.5:p.Ala2336Thr
ENST00000359568.9:c.7006G>A	ENSP00000352572.5:p.Ala2336Thr
ENST00000480896.5:n.7275G>A
NM_001315529.1:c.6652G>A	NP_001302458.1:p.Ala2218Thr
NM_006031.5:c.7006G>A	NP_006022.3:p.Ala2336Thr
XM_005261124.3:c.7039G>A	XP_005261181.1:p.Ala2347Thr
XM_011529593.1:c.7117G>A	XP_011527895.1:p.Ala2373Thr
XM_011529594.1:c.7087G>A	XP_011527896.1:p.Ala2363Thr
XM_005261124.5:c.7039G>A	XP_005261181.1:p.Ala2347Thr
XM_011529594.3:c.7087G>A	XP_011527896.1:p.Ala2363Thr
XM_017028362.2:c.7006G>A	XP_016883851.1:p.Ala2336Thr
XM_017028363.1:c.6685G>A	XP_016883852.1:p.Ala2229Thr
XM_024452082.1:c.5923G>A	XP_024307850.1:p.Ala1975Thr
XM_024452083.1:c.4819G>A	XP_024307851.1:p.Ala1607Thr
NM_006031.6:c.7006G>A MANE Select	NP_006022.3:p.Ala2336Thr
NM_001315529.2:c.6652G>A	NP_001302458.1:p.Ala2218Thr