Canonical Allele Identifier: CA386959415

Gene: P2RX7

Linked Data

• dbSNP Id: rs1360524316
• gnomAD v3: 12-121177357-A-G
• gnomAD v4: 12-121177357-A-G
• MyVariant Identifiers: chr12:g.121615160A>G (hg19) ; chr12:g.121177357A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121177357A>G , CM000674.2:g.121177357A>G	GRCh38
NC_000012.11:g.121615160A>G , CM000674.1:g.121615160A>G	GRCh37
NC_000012.10:g.120099543A>G	NCBI36
NG_011471.2:g.49483A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328963.10:c.1099A>G MANE Select	ENSP00000330696.6:p.Ile367Val
ENST00000261826.10:c.*552A>G	ENSP00000261826.6:n.*552A>G
ENST00000328963.9:c.1099A>G	ENSP00000330696.6:p.Ile367Val
ENST00000535250.5:c.1183A>G	ENSP00000442572.2:n.1183A>G
ENST00000535600.2:c.916A>G	ENSP00000442470.1:n.916A>G
ENST00000537312.5:c.*870A>G	ENSP00000438586.1:n.*870A>G
ENST00000538011.5:c.1238A>G	ENSP00000439247.1:n.1238A>G
ENST00000539606.5:c.1322A>G	ENSP00000445325.1:n.1322A>G
ENST00000539695.5:n.1268A>G
ENST00000541022.5:c.889A>G	ENSP00000441230.1:n.889A>G
ENST00000541564.5:c.962A>G	ENSP00000443640.1:n.962A>G
ENST00000541716.5:c.1110A>G	ENSP00000437729.1:n.1110A>G
NM_002562.5:c.1099A>G	NP_002553.3:p.Ile367Val
NR_033948.1:n.1465A>G
NR_033949.1:n.1381A>G
NR_033950.1:n.1342A>G
NR_033951.1:n.1326A>G
NR_033952.1:n.1253A>G
NR_033953.1:n.1166A>G
NR_033954.1:n.1145A>G
NR_033955.1:n.1105A>G
NR_033956.1:n.1032A>G
XM_011538418.1:c.832A>G	XP_011536720.1:p.Ile278Val
XM_011538419.1:c.787A>G	XP_011536721.1:p.Ile263Val
XM_011538420.1:c.232A>G	XP_011536722.1:p.Ile78Val
XR_945459.1:n.190-14940T>C
XR_945460.1:n.299-14940T>C
XM_011538419.3:c.787A>G	XP_011536721.1:p.Ile263Val
XM_011538420.3:c.232A>G	XP_011536722.1:p.Ile78Val
XM_017019364.2:c.739A>G	XP_016874853.1:p.Ile247Val
XM_017019365.2:c.739A>G	XP_016874854.1:p.Ile247Val
XM_017019366.2:c.346A>G	XP_016874855.1:p.Ile116Val
XM_017019367.2:c.346A>G	XP_016874856.1:p.Ile116Val
XR_001749352.2:n.186+26141T>C
XR_001749353.2:n.304-14940T>C
XR_001749354.2:n.186+26141T>C
XR_945459.3:n.187-14940T>C
XR_945460.3:n.299-14940T>C
NM_002562.6:c.1099A>G MANE Select	NP_002553.3:p.Ile367Val
NR_033948.2:n.1417A>G
NR_033949.2:n.1333A>G
NR_033950.2:n.1294A>G
NR_033951.2:n.1278A>G
NR_033952.2:n.1205A>G
NR_033953.2:n.1109A>G
NR_033954.2:n.1097A>G
NR_033955.2:n.1057A>G
NR_033956.2:n.984A>G