Canonical Allele Identifier: CA386959556

Gene: P2RX7

Linked Data

• dbSNP Id: rs1883331528
• gnomAD v4: 12-121177369-T-A
• MyVariant Identifiers: chr12:g.121615172T>A (hg19) ; chr12:g.121177369T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121177369T>A , CM000674.2:g.121177369T>A	GRCh38
NC_000012.11:g.121615172T>A , CM000674.1:g.121615172T>A	GRCh37
NC_000012.10:g.120099555T>A	NCBI36
NG_011471.2:g.49495T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328963.10:c.1111T>A MANE Select	ENSP00000330696.6:p.Cys371Ser
ENST00000261826.10:c.*564T>A	ENSP00000261826.6:n.*564T>A
ENST00000328963.9:c.1111T>A	ENSP00000330696.6:p.Cys371Ser
ENST00000535250.5:c.1195T>A	ENSP00000442572.2:n.1195T>A
ENST00000535600.2:c.928T>A	ENSP00000442470.1:n.928T>A
ENST00000537312.5:c.*882T>A	ENSP00000438586.1:n.*882T>A
ENST00000538011.5:c.1250T>A	ENSP00000439247.1:n.1250T>A
ENST00000539606.5:c.1334T>A	ENSP00000445325.1:n.1334T>A
ENST00000539695.5:n.1280T>A
ENST00000541022.5:c.901T>A	ENSP00000441230.1:n.901T>A
ENST00000541564.5:c.974T>A	ENSP00000443640.1:n.974T>A
ENST00000541716.5:c.1122T>A	ENSP00000437729.1:n.1122T>A
NM_002562.5:c.1111T>A	NP_002553.3:p.Cys371Ser
NR_033948.1:n.1477T>A
NR_033949.1:n.1393T>A
NR_033950.1:n.1354T>A
NR_033951.1:n.1338T>A
NR_033952.1:n.1265T>A
NR_033953.1:n.1178T>A
NR_033954.1:n.1157T>A
NR_033955.1:n.1117T>A
NR_033956.1:n.1044T>A
XM_011538418.1:c.844T>A	XP_011536720.1:p.Cys282Ser
XM_011538419.1:c.799T>A	XP_011536721.1:p.Cys267Ser
XM_011538420.1:c.244T>A	XP_011536722.1:p.Cys82Ser
XR_945459.1:n.190-14952A>T
XR_945460.1:n.299-14952A>T
XM_011538419.3:c.799T>A	XP_011536721.1:p.Cys267Ser
XM_011538420.3:c.244T>A	XP_011536722.1:p.Cys82Ser
XM_017019364.2:c.751T>A	XP_016874853.1:p.Cys251Ser
XM_017019365.2:c.751T>A	XP_016874854.1:p.Cys251Ser
XM_017019366.2:c.358T>A	XP_016874855.1:p.Cys120Ser
XM_017019367.2:c.358T>A	XP_016874856.1:p.Cys120Ser
XR_001749352.2:n.186+26129A>T
XR_001749353.2:n.304-14952A>T
XR_001749354.2:n.186+26129A>T
XR_945459.3:n.187-14952A>T
XR_945460.3:n.299-14952A>T
NM_002562.6:c.1111T>A MANE Select	NP_002553.3:p.Cys371Ser
NR_033948.2:n.1429T>A
NR_033949.2:n.1345T>A
NR_033950.2:n.1306T>A
NR_033951.2:n.1290T>A
NR_033952.2:n.1217T>A
NR_033953.2:n.1121T>A
NR_033954.2:n.1109T>A
NR_033955.2:n.1069T>A
NR_033956.2:n.996T>A