Canonical Allele Identifier: CA386959632

Gene: P2RX7

Linked Data

• MyVariant Identifiers: chr12:g.121615181T>C (hg19) ; chr12:g.121177378T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121177378T>C , CM000674.2:g.121177378T>C	GRCh38
NC_000012.11:g.121615181T>C , CM000674.1:g.121615181T>C	GRCh37
NC_000012.10:g.120099564T>C	NCBI36
NG_011471.2:g.49504T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328963.10:c.1120T>C MANE Select	ENSP00000330696.6:p.Cys374Arg
ENST00000261826.10:c.*573T>C	ENSP00000261826.6:n.*573T>C
ENST00000328963.9:c.1120T>C	ENSP00000330696.6:p.Cys374Arg
ENST00000535250.5:c.1204T>C	ENSP00000442572.2:n.1204T>C
ENST00000535600.2:c.937T>C	ENSP00000442470.1:n.937T>C
ENST00000537312.5:c.*891T>C	ENSP00000438586.1:n.*891T>C
ENST00000538011.5:c.1259T>C	ENSP00000439247.1:n.1259T>C
ENST00000539606.5:c.1343T>C	ENSP00000445325.1:n.1343T>C
ENST00000539695.5:n.1289T>C
ENST00000541022.5:c.910T>C	ENSP00000441230.1:n.910T>C
ENST00000541564.5:c.983T>C	ENSP00000443640.1:n.983T>C
ENST00000541716.5:c.1131T>C	ENSP00000437729.1:n.1131T>C
NM_002562.5:c.1120T>C	NP_002553.3:p.Cys374Arg
NR_033948.1:n.1486T>C
NR_033949.1:n.1402T>C
NR_033950.1:n.1363T>C
NR_033951.1:n.1347T>C
NR_033952.1:n.1274T>C
NR_033953.1:n.1187T>C
NR_033954.1:n.1166T>C
NR_033955.1:n.1126T>C
NR_033956.1:n.1053T>C
XM_011538418.1:c.853T>C	XP_011536720.1:p.Cys285Arg
XM_011538419.1:c.808T>C	XP_011536721.1:p.Cys270Arg
XM_011538420.1:c.253T>C	XP_011536722.1:p.Cys85Arg
XR_945459.1:n.190-14961A>G
XR_945460.1:n.299-14961A>G
XM_011538419.3:c.808T>C	XP_011536721.1:p.Cys270Arg
XM_011538420.3:c.253T>C	XP_011536722.1:p.Cys85Arg
XM_017019364.2:c.760T>C	XP_016874853.1:p.Cys254Arg
XM_017019365.2:c.760T>C	XP_016874854.1:p.Cys254Arg
XM_017019366.2:c.367T>C	XP_016874855.1:p.Cys123Arg
XM_017019367.2:c.367T>C	XP_016874856.1:p.Cys123Arg
XR_001749352.2:n.186+26120A>G
XR_001749353.2:n.304-14961A>G
XR_001749354.2:n.186+26120A>G
XR_945459.3:n.187-14961A>G
XR_945460.3:n.299-14961A>G
NM_002562.6:c.1120T>C MANE Select	NP_002553.3:p.Cys374Arg
NR_033948.2:n.1438T>C
NR_033949.2:n.1354T>C
NR_033950.2:n.1315T>C
NR_033951.2:n.1299T>C
NR_033952.2:n.1226T>C
NR_033953.2:n.1130T>C
NR_033954.2:n.1118T>C
NR_033955.2:n.1078T>C
NR_033956.2:n.1005T>C