Canonical Allele Identifier: CA386959397
Gene: P2RX7 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.121177355A>T , CM000674.2:g.121177355A>T GRCh38
NC_000012.11:g.121615158A>T , CM000674.1:g.121615158A>T GRCh37
NC_000012.10:g.120099541A>T NCBI36
NG_011471.2:g.49481A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000328963.10:c.1097A>T MANE Select ENSP00000330696.6:p.His366Leu
ENST00000261826.10:c.*550A>T ENSP00000261826.6:n.*550A>T
ENST00000328963.9:c.1097A>T ENSP00000330696.6:p.His366Leu
ENST00000535250.5:c.1181A>T ENSP00000442572.2:n.1181A>T
ENST00000535600.2:c.914A>T ENSP00000442470.1:n.914A>T
ENST00000537312.5:c.*868A>T ENSP00000438586.1:n.*868A>T
ENST00000538011.5:c.1236A>T ENSP00000439247.1:n.1236A>T
ENST00000539606.5:c.1320A>T ENSP00000445325.1:n.1320A>T
ENST00000539695.5:n.1266A>T
ENST00000541022.5:c.887A>T ENSP00000441230.1:n.887A>T
ENST00000541564.5:c.960A>T ENSP00000443640.1:n.960A>T
ENST00000541716.5:c.1108A>T ENSP00000437729.1:n.1108A>T
NM_002562.5:c.1097A>T NP_002553.3:p.His366Leu
NR_033948.1:n.1463A>T
NR_033949.1:n.1379A>T
NR_033950.1:n.1340A>T
NR_033951.1:n.1324A>T
NR_033952.1:n.1251A>T
NR_033953.1:n.1164A>T
NR_033954.1:n.1143A>T
NR_033955.1:n.1103A>T
NR_033956.1:n.1030A>T
XM_011538418.1:c.830A>T XP_011536720.1:p.His277Leu
XM_011538419.1:c.785A>T XP_011536721.1:p.His262Leu
XM_011538420.1:c.230A>T XP_011536722.1:p.His77Leu
XR_945459.1:n.190-14938T>A
XR_945460.1:n.299-14938T>A
XM_011538419.3:c.785A>T XP_011536721.1:p.His262Leu
XM_011538420.3:c.230A>T XP_011536722.1:p.His77Leu
XM_017019364.2:c.737A>T XP_016874853.1:p.His246Leu
XM_017019365.2:c.737A>T XP_016874854.1:p.His246Leu
XM_017019366.2:c.344A>T XP_016874855.1:p.His115Leu
XM_017019367.2:c.344A>T XP_016874856.1:p.His115Leu
XR_001749352.2:n.186+26143T>A
XR_001749353.2:n.304-14938T>A
XR_001749354.2:n.186+26143T>A
XR_945459.3:n.187-14938T>A
XR_945460.3:n.299-14938T>A
NM_002562.6:c.1097A>T MANE Select NP_002553.3:p.His366Leu
NR_033948.2:n.1415A>T
NR_033949.2:n.1331A>T
NR_033950.2:n.1292A>T
NR_033951.2:n.1276A>T
NR_033952.2:n.1203A>T
NR_033953.2:n.1107A>T
NR_033954.2:n.1095A>T
NR_033955.2:n.1055A>T
NR_033956.2:n.982A>T