Canonical Allele Identifier: CA386959480
Gene: P2RX7 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.121177363C>T , CM000674.2:g.121177363C>T GRCh38
NC_000012.11:g.121615166C>T , CM000674.1:g.121615166C>T GRCh37
NC_000012.10:g.120099549C>T NCBI36
NG_011471.2:g.49489C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000328963.10:c.1105C>T MANE Select ENSP00000330696.6:p.Pro369Ser
ENST00000261826.10:c.*558C>T ENSP00000261826.6:n.*558C>T
ENST00000328963.9:c.1105C>T ENSP00000330696.6:p.Pro369Ser
ENST00000535250.5:c.1189C>T ENSP00000442572.2:n.1189C>T
ENST00000535600.2:c.922C>T ENSP00000442470.1:n.922C>T
ENST00000537312.5:c.*876C>T ENSP00000438586.1:n.*876C>T
ENST00000538011.5:c.1244C>T ENSP00000439247.1:n.1244C>T
ENST00000539606.5:c.1328C>T ENSP00000445325.1:n.1328C>T
ENST00000539695.5:n.1274C>T
ENST00000541022.5:c.895C>T ENSP00000441230.1:n.895C>T
ENST00000541564.5:c.968C>T ENSP00000443640.1:n.968C>T
ENST00000541716.5:c.1116C>T ENSP00000437729.1:n.1116C>T
NM_002562.5:c.1105C>T NP_002553.3:p.Pro369Ser
NR_033948.1:n.1471C>T
NR_033949.1:n.1387C>T
NR_033950.1:n.1348C>T
NR_033951.1:n.1332C>T
NR_033952.1:n.1259C>T
NR_033953.1:n.1172C>T
NR_033954.1:n.1151C>T
NR_033955.1:n.1111C>T
NR_033956.1:n.1038C>T
XM_011538418.1:c.838C>T XP_011536720.1:p.Pro280Ser
XM_011538419.1:c.793C>T XP_011536721.1:p.Pro265Ser
XM_011538420.1:c.238C>T XP_011536722.1:p.Pro80Ser
XR_945459.1:n.190-14946G>A
XR_945460.1:n.299-14946G>A
XM_011538419.3:c.793C>T XP_011536721.1:p.Pro265Ser
XM_011538420.3:c.238C>T XP_011536722.1:p.Pro80Ser
XM_017019364.2:c.745C>T XP_016874853.1:p.Pro249Ser
XM_017019365.2:c.745C>T XP_016874854.1:p.Pro249Ser
XM_017019366.2:c.352C>T XP_016874855.1:p.Pro118Ser
XM_017019367.2:c.352C>T XP_016874856.1:p.Pro118Ser
XR_001749352.2:n.186+26135G>A
XR_001749353.2:n.304-14946G>A
XR_001749354.2:n.186+26135G>A
XR_945459.3:n.187-14946G>A
XR_945460.3:n.299-14946G>A
NM_002562.6:c.1105C>T MANE Select NP_002553.3:p.Pro369Ser
NR_033948.2:n.1423C>T
NR_033949.2:n.1339C>T
NR_033950.2:n.1300C>T
NR_033951.2:n.1284C>T
NR_033952.2:n.1211C>T
NR_033953.2:n.1115C>T
NR_033954.2:n.1103C>T
NR_033955.2:n.1063C>T
NR_033956.2:n.990C>T