Canonical Allele Identifier: CA244546407

Gene: P2RX7

Linked Data

• dbSNP Id: rs1048307427
• gnomAD v3: 12-121177404-C-T
• gnomAD v4: 12-121177404-C-T
• MyVariant Identifiers: chr12:g.121615207C>T (hg19) ; chr12:g.121177404C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121177404C>T , CM000674.2:g.121177404C>T	GRCh38
NC_000012.11:g.121615207C>T , CM000674.1:g.121615207C>T	GRCh37
NC_000012.10:g.120099590C>T	NCBI36
NG_011471.2:g.49530C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328963.10:c.1146C>T MANE Select	ENSP00000330696.6:p.Tyr382=
ENST00000261826.10:c.*599C>T	ENSP00000261826.6:n.*599C>T
ENST00000328963.9:c.1146C>T	ENSP00000330696.6:p.Tyr382=
ENST00000535250.5:c.1230C>T	ENSP00000442572.2:n.1230C>T
ENST00000535600.2:c.963C>T	ENSP00000442470.1:n.963C>T
ENST00000537312.5:c.*917C>T	ENSP00000438586.1:n.*917C>T
ENST00000538011.5:c.1285C>T	ENSP00000439247.1:n.1285C>T
ENST00000539606.5:c.1369C>T	ENSP00000445325.1:n.1369C>T
ENST00000539695.5:n.1315C>T
ENST00000541022.5:c.936C>T	ENSP00000441230.1:n.936C>T
ENST00000541564.5:c.1009C>T	ENSP00000443640.1:n.1009C>T
ENST00000541716.5:c.1157C>T	ENSP00000437729.1:n.1157C>T
NM_002562.5:c.1146C>T	NP_002553.3:p.Tyr382=
NR_033948.1:n.1512C>T
NR_033949.1:n.1428C>T
NR_033950.1:n.1389C>T
NR_033951.1:n.1373C>T
NR_033952.1:n.1300C>T
NR_033953.1:n.1213C>T
NR_033954.1:n.1192C>T
NR_033955.1:n.1152C>T
NR_033956.1:n.1079C>T
XM_011538418.1:c.879C>T	XP_011536720.1:p.Tyr293=
XM_011538419.1:c.834C>T	XP_011536721.1:p.Tyr278=
XM_011538420.1:c.279C>T	XP_011536722.1:p.Tyr93=
XR_945459.1:n.190-14987G>A
XR_945460.1:n.299-14987G>A
XM_011538419.3:c.834C>T	XP_011536721.1:p.Tyr278=
XM_011538420.3:c.279C>T	XP_011536722.1:p.Tyr93=
XM_017019364.2:c.786C>T	XP_016874853.1:p.Tyr262=
XM_017019365.2:c.786C>T	XP_016874854.1:p.Tyr262=
XM_017019366.2:c.393C>T	XP_016874855.1:p.Tyr131=
XM_017019367.2:c.393C>T	XP_016874856.1:p.Tyr131=
XR_001749352.2:n.186+26094G>A
XR_001749353.2:n.304-14987G>A
XR_001749354.2:n.186+26094G>A
XR_945459.3:n.187-14987G>A
XR_945460.3:n.299-14987G>A
NM_002562.6:c.1146C>T MANE Select	NP_002553.3:p.Tyr382=
NR_033948.2:n.1464C>T
NR_033949.2:n.1380C>T
NR_033950.2:n.1341C>T
NR_033951.2:n.1325C>T
NR_033952.2:n.1252C>T
NR_033953.2:n.1156C>T
NR_033954.2:n.1144C>T
NR_033955.2:n.1104C>T
NR_033956.2:n.1031C>T