Canonical Allele Identifier: CA386959517
Gene: P2RX7 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.121177367G>A , CM000674.2:g.121177367G>A GRCh38
NC_000012.11:g.121615170G>A , CM000674.1:g.121615170G>A GRCh37
NC_000012.10:g.120099553G>A NCBI36
NG_011471.2:g.49493G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000328963.10:c.1109G>A MANE Select ENSP00000330696.6:p.Trp370Ter
ENST00000261826.10:c.*562G>A ENSP00000261826.6:n.*562G>A
ENST00000328963.9:c.1109G>A ENSP00000330696.6:p.Trp370Ter
ENST00000535250.5:c.1193G>A ENSP00000442572.2:n.1193G>A
ENST00000535600.2:c.926G>A ENSP00000442470.1:n.926G>A
ENST00000537312.5:c.*880G>A ENSP00000438586.1:n.*880G>A
ENST00000538011.5:c.1248G>A ENSP00000439247.1:n.1248G>A
ENST00000539606.5:c.1332G>A ENSP00000445325.1:n.1332G>A
ENST00000539695.5:n.1278G>A
ENST00000541022.5:c.899G>A ENSP00000441230.1:n.899G>A
ENST00000541564.5:c.972G>A ENSP00000443640.1:n.972G>A
ENST00000541716.5:c.1120G>A ENSP00000437729.1:n.1120G>A
NM_002562.5:c.1109G>A NP_002553.3:p.Trp370Ter
NR_033948.1:n.1475G>A
NR_033949.1:n.1391G>A
NR_033950.1:n.1352G>A
NR_033951.1:n.1336G>A
NR_033952.1:n.1263G>A
NR_033953.1:n.1176G>A
NR_033954.1:n.1155G>A
NR_033955.1:n.1115G>A
NR_033956.1:n.1042G>A
XM_011538418.1:c.842G>A XP_011536720.1:p.Trp281Ter
XM_011538419.1:c.797G>A XP_011536721.1:p.Trp266Ter
XM_011538420.1:c.242G>A XP_011536722.1:p.Trp81Ter
XR_945459.1:n.190-14950C>T
XR_945460.1:n.299-14950C>T
XM_011538419.3:c.797G>A XP_011536721.1:p.Trp266Ter
XM_011538420.3:c.242G>A XP_011536722.1:p.Trp81Ter
XM_017019364.2:c.749G>A XP_016874853.1:p.Trp250Ter
XM_017019365.2:c.749G>A XP_016874854.1:p.Trp250Ter
XM_017019366.2:c.356G>A XP_016874855.1:p.Trp119Ter
XM_017019367.2:c.356G>A XP_016874856.1:p.Trp119Ter
XR_001749352.2:n.186+26131C>T
XR_001749353.2:n.304-14950C>T
XR_001749354.2:n.186+26131C>T
XR_945459.3:n.187-14950C>T
XR_945460.3:n.299-14950C>T
NM_002562.6:c.1109G>A MANE Select NP_002553.3:p.Trp370Ter
NR_033948.2:n.1427G>A
NR_033949.2:n.1343G>A
NR_033950.2:n.1304G>A
NR_033951.2:n.1288G>A
NR_033952.2:n.1215G>A
NR_033953.2:n.1119G>A
NR_033954.2:n.1107G>A
NR_033955.2:n.1067G>A
NR_033956.2:n.994G>A