Canonical Allele Identifier: CA386959129

Gene: P2RX7

Linked Data

• dbSNP Id: rs1883321330
• gnomAD v4: 12-121177327-A-G
• MyVariant Identifiers: chr12:g.121615130A>G (hg19) ; chr12:g.121177327A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121177327A>G , CM000674.2:g.121177327A>G	GRCh38
NC_000012.11:g.121615130A>G , CM000674.1:g.121615130A>G	GRCh37
NC_000012.10:g.120099513A>G	NCBI36
NG_011471.2:g.49453A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328963.10:c.1069A>G MANE Select	ENSP00000330696.6:p.Thr357Ala
ENST00000261826.10:c.*522A>G	ENSP00000261826.6:n.*522A>G
ENST00000328963.9:c.1069A>G	ENSP00000330696.6:p.Thr357Ala
ENST00000535250.5:c.1153A>G	ENSP00000442572.2:n.1153A>G
ENST00000535600.2:c.886A>G	ENSP00000442470.1:n.886A>G
ENST00000537312.5:c.*840A>G	ENSP00000438586.1:n.*840A>G
ENST00000538011.5:c.1208A>G	ENSP00000439247.1:n.1208A>G
ENST00000539606.5:c.1292A>G	ENSP00000445325.1:n.1292A>G
ENST00000539695.5:n.1238A>G
ENST00000541022.5:c.859A>G	ENSP00000441230.1:n.859A>G
ENST00000541564.5:c.932A>G	ENSP00000443640.1:n.932A>G
ENST00000541716.5:c.1080A>G	ENSP00000437729.1:n.1080A>G
NM_002562.5:c.1069A>G	NP_002553.3:p.Thr357Ala
NR_033948.1:n.1435A>G
NR_033949.1:n.1351A>G
NR_033950.1:n.1312A>G
NR_033951.1:n.1296A>G
NR_033952.1:n.1223A>G
NR_033953.1:n.1136A>G
NR_033954.1:n.1115A>G
NR_033955.1:n.1075A>G
NR_033956.1:n.1002A>G
XM_011538418.1:c.802A>G	XP_011536720.1:p.Thr268Ala
XM_011538419.1:c.757A>G	XP_011536721.1:p.Thr253Ala
XM_011538420.1:c.202A>G	XP_011536722.1:p.Thr68Ala
XR_945459.1:n.190-14910T>C
XR_945460.1:n.299-14910T>C
XM_011538419.3:c.757A>G	XP_011536721.1:p.Thr253Ala
XM_011538420.3:c.202A>G	XP_011536722.1:p.Thr68Ala
XM_017019364.2:c.709A>G	XP_016874853.1:p.Thr237Ala
XM_017019365.2:c.709A>G	XP_016874854.1:p.Thr237Ala
XM_017019366.2:c.316A>G	XP_016874855.1:p.Thr106Ala
XM_017019367.2:c.316A>G	XP_016874856.1:p.Thr106Ala
XR_001749352.2:n.186+26171T>C
XR_001749353.2:n.304-14910T>C
XR_001749354.2:n.186+26171T>C
XR_945459.3:n.187-14910T>C
XR_945460.3:n.299-14910T>C
NM_002562.6:c.1069A>G MANE Select	NP_002553.3:p.Thr357Ala
NR_033948.2:n.1387A>G
NR_033949.2:n.1303A>G
NR_033950.2:n.1264A>G
NR_033951.2:n.1248A>G
NR_033952.2:n.1175A>G
NR_033953.2:n.1079A>G
NR_033954.2:n.1067A>G
NR_033955.2:n.1027A>G
NR_033956.2:n.954A>G