Canonical Allele Identifier: CA6833513

Gene: P2RX7

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121177300G>A , CM000674.2:g.121177300G>A	GRCh38
NC_000012.11:g.121615103G>A , CM000674.1:g.121615103G>A	GRCh37
NC_000012.10:g.120099486G>A	NCBI36
NG_011471.2:g.49426G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_002562.6:c.1042G>A MANE Select	NP_002553.3:p.Ala348Thr
ENST00000328963.10:c.1042G>A MANE Select	ENSP00000330696.6:p.Ala348Thr
NM_002562.5:c.1042G>A	NP_002553.3:p.Ala348Thr
NR_033948.1:n.1408G>A
NR_033948.2:n.1360G>A
NR_033949.1:n.1324G>A
NR_033949.2:n.1276G>A
NR_033950.1:n.1285G>A
NR_033950.2:n.1237G>A
NR_033951.1:n.1269G>A
NR_033951.2:n.1221G>A
NR_033952.1:n.1196G>A
NR_033952.2:n.1148G>A
NR_033953.1:n.1109G>A
NR_033953.2:n.1052G>A
NR_033954.1:n.1088G>A
NR_033954.2:n.1040G>A
NR_033955.1:n.1048G>A
NR_033955.2:n.1000G>A
NR_033956.1:n.975G>A
NR_033956.2:n.927G>A
ENST00000261826.10:c.*495G>A	ENSP00000261826.6:n.*495G>A
ENST00000328963.9:c.1042G>A	ENSP00000330696.6:p.Ala348Thr
ENST00000535250.5:c.1126G>A	ENSP00000442572.2:n.1126G>A
ENST00000535600.2:c.859G>A	ENSP00000442470.1:n.859G>A
ENST00000537312.5:c.*813G>A	ENSP00000438586.1:n.*813G>A
ENST00000538011.5:c.1181G>A	ENSP00000439247.1:n.1181G>A
ENST00000539606.5:c.1265G>A	ENSP00000445325.1:n.1265G>A
ENST00000539695.5:n.1211G>A
ENST00000541022.5:c.832G>A	ENSP00000441230.1:n.832G>A
ENST00000541564.5:c.905G>A	ENSP00000443640.1:n.905G>A
ENST00000541716.5:c.1053G>A	ENSP00000437729.1:n.1053G>A
XM_011538418.1:c.775G>A	XP_011536720.1:p.Ala259Thr
XM_011538419.1:c.730G>A	XP_011536721.1:p.Ala244Thr
XM_011538419.3:c.730G>A	XP_011536721.1:p.Ala244Thr
XM_011538420.1:c.175G>A	XP_011536722.1:p.Ala59Thr
XM_011538420.3:c.175G>A	XP_011536722.1:p.Ala59Thr
XM_017019364.2:c.682G>A	XP_016874853.1:p.Ala228Thr
XM_017019365.2:c.682G>A	XP_016874854.1:p.Ala228Thr
XM_017019366.2:c.289G>A	XP_016874855.1:p.Ala97Thr
XM_017019367.2:c.289G>A	XP_016874856.1:p.Ala97Thr
XR_001749352.2:n.186+26198C>T
XR_001749353.2:n.304-14883C>T
XR_001749354.2:n.186+26198C>T
XR_945459.1:n.190-14883C>T
XR_945459.3:n.187-14883C>T
XR_945460.1:n.299-14883C>T
XR_945460.3:n.299-14883C>T