Canonical Allele Identifier: CA386959512

Gene: P2RX7

Linked Data

• MyVariant Identifiers: chr12:g.121615169T>C (hg19) ; chr12:g.121177366T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121177366T>C , CM000674.2:g.121177366T>C	GRCh38
NC_000012.11:g.121615169T>C , CM000674.1:g.121615169T>C	GRCh37
NC_000012.10:g.120099552T>C	NCBI36
NG_011471.2:g.49492T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328963.10:c.1108T>C MANE Select	ENSP00000330696.6:p.Trp370Arg
ENST00000261826.10:c.*561T>C	ENSP00000261826.6:n.*561T>C
ENST00000328963.9:c.1108T>C	ENSP00000330696.6:p.Trp370Arg
ENST00000535250.5:c.1192T>C	ENSP00000442572.2:n.1192T>C
ENST00000535600.2:c.925T>C	ENSP00000442470.1:n.925T>C
ENST00000537312.5:c.*879T>C	ENSP00000438586.1:n.*879T>C
ENST00000538011.5:c.1247T>C	ENSP00000439247.1:n.1247T>C
ENST00000539606.5:c.1331T>C	ENSP00000445325.1:n.1331T>C
ENST00000539695.5:n.1277T>C
ENST00000541022.5:c.898T>C	ENSP00000441230.1:n.898T>C
ENST00000541564.5:c.971T>C	ENSP00000443640.1:n.971T>C
ENST00000541716.5:c.1119T>C	ENSP00000437729.1:n.1119T>C
NM_002562.5:c.1108T>C	NP_002553.3:p.Trp370Arg
NR_033948.1:n.1474T>C
NR_033949.1:n.1390T>C
NR_033950.1:n.1351T>C
NR_033951.1:n.1335T>C
NR_033952.1:n.1262T>C
NR_033953.1:n.1175T>C
NR_033954.1:n.1154T>C
NR_033955.1:n.1114T>C
NR_033956.1:n.1041T>C
XM_011538418.1:c.841T>C	XP_011536720.1:p.Trp281Arg
XM_011538419.1:c.796T>C	XP_011536721.1:p.Trp266Arg
XM_011538420.1:c.241T>C	XP_011536722.1:p.Trp81Arg
XR_945459.1:n.190-14949A>G
XR_945460.1:n.299-14949A>G
XM_011538419.3:c.796T>C	XP_011536721.1:p.Trp266Arg
XM_011538420.3:c.241T>C	XP_011536722.1:p.Trp81Arg
XM_017019364.2:c.748T>C	XP_016874853.1:p.Trp250Arg
XM_017019365.2:c.748T>C	XP_016874854.1:p.Trp250Arg
XM_017019366.2:c.355T>C	XP_016874855.1:p.Trp119Arg
XM_017019367.2:c.355T>C	XP_016874856.1:p.Trp119Arg
XR_001749352.2:n.186+26132A>G
XR_001749353.2:n.304-14949A>G
XR_001749354.2:n.186+26132A>G
XR_945459.3:n.187-14949A>G
XR_945460.3:n.299-14949A>G
NM_002562.6:c.1108T>C MANE Select	NP_002553.3:p.Trp370Arg
NR_033948.2:n.1426T>C
NR_033949.2:n.1342T>C
NR_033950.2:n.1303T>C
NR_033951.2:n.1287T>C
NR_033952.2:n.1214T>C
NR_033953.2:n.1118T>C
NR_033954.2:n.1106T>C
NR_033955.2:n.1066T>C
NR_033956.2:n.993T>C