Canonical Allele Identifier: CA410574534

Gene: PCNT

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46435904C>G , CM000683.2:g.46435904C>G	GRCh38
NC_000021.8:g.47855817C>G , CM000683.1:g.47855817C>G	GRCh37
NC_000021.7:g.46680245C>G	NCBI36
NG_008961.1:g.116782C>G
NG_008961.2:g.116783C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_006031.6:c.8752C>G MANE Select	NP_006022.3:p.Arg2918Gly
ENST00000359568.10:c.8752C>G MANE Select	ENSP00000352572.5:p.Arg2918Gly
NM_001315529.1:c.8161C>G	NP_001302458.1:p.Arg2721Gly
NM_001315529.2:c.8161C>G	NP_001302458.1:p.Arg2721Gly
NM_006031.5:c.8752C>G	NP_006022.3:p.Arg2918Gly
ENST00000359568.9:c.8752C>G	ENSP00000352572.5:p.Arg2918Gly
ENST00000418394.2:c.1334C>G
ENST00000480896.5:n.8784C>G
ENST00000695527.1:n.3097C>G
ENST00000695528.1:c.2785C>G	ENSP00000511990.1:p.Arg929Gly
ENST00000695529.1:n.2548C>G
ENST00000695530.1:c.1334C>G
ENST00000695531.1:n.2354C>G
ENST00000695532.1:n.2354C>G
ENST00000695533.1:n.1422C>G
ENST00000695534.1:n.1146C>G
ENST00000695535.1:n.227C>G
ENST00000695558.1:c.8785C>G	ENSP00000512015.1:p.Arg2929Gly
ENST00000703224.1:c.*7995C>G	ENSP00000515242.1:n.*7995C>G
ENST00000703226.1:n.1422C>G
XM_005261124.3:c.8785C>G	XP_005261181.1:p.Arg2929Gly
XM_005261124.5:c.8785C>G	XP_005261181.1:p.Arg2929Gly
XM_011529593.1:c.8863C>G	XP_011527895.1:p.Arg2955Gly
XM_011529594.1:c.8833C>G	XP_011527896.1:p.Arg2945Gly
XM_011529594.3:c.8833C>G	XP_011527896.1:p.Arg2945Gly
XM_017028362.2:c.8515C>G	XP_016883851.1:p.Arg2839Gly
XM_017028363.1:c.8431C>G	XP_016883852.1:p.Arg2811Gly
XM_024452082.1:c.7669C>G	XP_024307850.1:p.Arg2557Gly
XM_024452083.1:c.6565C>G	XP_024307851.1:p.Arg2189Gly