Canonical Allele Identifier: CA482159172

Gene: P2RX7

Linked Data

• MyVariant Identifiers: chr12:g.121615198C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121177395C>T , CM000674.2:g.121177395C>T	GRCh38
NC_000012.11:g.121615198C>T , CM000674.1:g.121615198C>T	GRCh37
NC_000012.10:g.120099581C>T	NCBI36
NG_011471.2:g.49521C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328963.10:c.1137C>T MANE Select	ENSP00000330696.6:p.Val379=
ENST00000261826.10:c.*590C>T	ENSP00000261826.6:n.*590C>T
ENST00000328963.9:c.1137C>T	ENSP00000330696.6:p.Val379=
ENST00000535250.5:c.1221C>T	ENSP00000442572.2:n.1221C>T
ENST00000535600.2:c.954C>T	ENSP00000442470.1:n.954C>T
ENST00000537312.5:c.*908C>T	ENSP00000438586.1:n.*908C>T
ENST00000538011.5:c.1276C>T	ENSP00000439247.1:n.1276C>T
ENST00000539606.5:c.1360C>T	ENSP00000445325.1:n.1360C>T
ENST00000539695.5:n.1306C>T
ENST00000541022.5:c.927C>T	ENSP00000441230.1:n.927C>T
ENST00000541564.5:c.1000C>T	ENSP00000443640.1:n.1000C>T
ENST00000541716.5:c.1148C>T	ENSP00000437729.1:n.1148C>T
NM_002562.5:c.1137C>T	NP_002553.3:p.Val379=
NR_033948.1:n.1503C>T
NR_033949.1:n.1419C>T
NR_033950.1:n.1380C>T
NR_033951.1:n.1364C>T
NR_033952.1:n.1291C>T
NR_033953.1:n.1204C>T
NR_033954.1:n.1183C>T
NR_033955.1:n.1143C>T
NR_033956.1:n.1070C>T
XM_011538418.1:c.870C>T	XP_011536720.1:p.Val290=
XM_011538419.1:c.825C>T	XP_011536721.1:p.Val275=
XM_011538420.1:c.270C>T	XP_011536722.1:p.Val90=
XR_945459.1:n.190-14978G>A
XR_945460.1:n.299-14978G>A
XM_011538419.3:c.825C>T	XP_011536721.1:p.Val275=
XM_011538420.3:c.270C>T	XP_011536722.1:p.Val90=
XM_017019364.2:c.777C>T	XP_016874853.1:p.Val259=
XM_017019365.2:c.777C>T	XP_016874854.1:p.Val259=
XM_017019366.2:c.384C>T	XP_016874855.1:p.Val128=
XM_017019367.2:c.384C>T	XP_016874856.1:p.Val128=
XR_001749352.2:n.186+26103G>A
XR_001749353.2:n.304-14978G>A
XR_001749354.2:n.186+26103G>A
XR_945459.3:n.187-14978G>A
XR_945460.3:n.299-14978G>A
NM_002562.6:c.1137C>T MANE Select	NP_002553.3:p.Val379=
NR_033948.2:n.1455C>T
NR_033949.2:n.1371C>T
NR_033950.2:n.1332C>T
NR_033951.2:n.1316C>T
NR_033952.2:n.1243C>T
NR_033953.2:n.1147C>T
NR_033954.2:n.1135C>T
NR_033955.2:n.1095C>T
NR_033956.2:n.1022C>T