Canonical Allele Identifier: CA173102

Gene: PCNT

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46430119G>A , CM000683.2:g.46430119G>A	GRCh38
NC_000021.8:g.47850033G>A , CM000683.1:g.47850033G>A	GRCh37
NC_000021.7:g.46674461G>A	NCBI36
NG_008961.1:g.110998G>A
NG_008961.2:g.110998G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000418394.2:c.619G>A
ENST00000695527.1:n.2145G>A
ENST00000695528.1:c.1833G>A	ENSP00000511990.1:p.Ala611=
ENST00000695529.1:n.1833G>A
ENST00000695530.1:c.619G>A
ENST00000695531.1:n.1402G>A
ENST00000695532.1:n.1402G>A
ENST00000695533.1:n.419G>A
ENST00000695558.1:c.7833G>A	ENSP00000512015.1:p.Ala2611=
ENST00000703224.1:c.*7043G>A	ENSP00000515242.1:n.*7043G>A
ENST00000703226.1:n.419G>A
ENST00000359568.10:c.7800G>A MANE Select	ENSP00000352572.5:p.Ala2600=
ENST00000359568.9:c.7800G>A	ENSP00000352572.5:p.Ala2600=
ENST00000480896.5:n.8069G>A
NM_001315529.1:c.7446G>A	NP_001302458.1:p.Ala2482=
NM_006031.5:c.7800G>A	NP_006022.3:p.Ala2600=
XM_005261124.3:c.7833G>A	XP_005261181.1:p.Ala2611=
XM_011529593.1:c.7911G>A	XP_011527895.1:p.Ala2637=
XM_011529594.1:c.7881G>A	XP_011527896.1:p.Ala2627=
XM_005261124.5:c.7833G>A	XP_005261181.1:p.Ala2611=
XM_011529594.3:c.7881G>A	XP_011527896.1:p.Ala2627=
XM_017028362.2:c.7800G>A	XP_016883851.1:p.Ala2600=
XM_017028363.1:c.7479G>A	XP_016883852.1:p.Ala2493=
XM_024452082.1:c.6717G>A	XP_024307850.1:p.Ala2239=
XM_024452083.1:c.5613G>A	XP_024307851.1:p.Ala1871=
NM_006031.6:c.7800G>A MANE Select	NP_006022.3:p.Ala2600=
NM_001315529.2:c.7446G>A	NP_001302458.1:p.Ala2482=