Canonical Allele Identifier: CA386942215
Gene: P2RX7 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.121132999T>C , CM000674.2:g.121132999T>C GRCh38
NC_000012.11:g.121570802T>C , CM000674.1:g.121570802T>C GRCh37
NC_000012.10:g.120055185T>C NCBI36
NG_011471.2:g.5125T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000328963.10:c.29T>C MANE Select ENSP00000330696.6:p.Val10Ala
ENST00000261826.10:c.29T>C ENSP00000261826.6:p.Val10Ala
ENST00000328963.9:c.29T>C ENSP00000330696.6:p.Val10Ala
ENST00000535250.5:c.29T>C ENSP00000442572.2:p.Val10Ala
ENST00000535600.2:c.29T>C ENSP00000442470.1:p.Val10Ala
ENST00000535928.5:c.29T>C ENSP00000439961.1:p.Val10Ala
ENST00000537312.5:c.29T>C ENSP00000438586.1:p.Val10Ala
ENST00000538011.5:c.29T>C ENSP00000439247.1:p.Val10Ala
ENST00000539606.5:c.29T>C ENSP00000445325.1:p.Val10Ala
ENST00000539695.5:n.98T>C
ENST00000541022.5:c.29T>C ENSP00000441230.1:p.Val10Ala
ENST00000541564.5:c.29T>C ENSP00000443640.1:p.Val10Ala
ENST00000541716.5:c.29T>C ENSP00000437729.1:p.Val10Ala
ENST00000545434.5:c.29T>C ENSP00000445564.1:p.Val10Ala
NM_002562.5:c.29T>C NP_002553.3:p.Val10Ala
NR_033948.1:n.172T>C
NR_033949.1:n.172T>C
NR_033950.1:n.172T>C
NR_033951.1:n.172T>C
NR_033952.1:n.172T>C
NR_033953.1:n.181T>C
NR_033954.1:n.172T>C
NR_033955.1:n.172T>C
NR_033956.1:n.172T>C
XM_011538418.1:c.29T>C XP_011536720.1:p.Val10Ala
XM_011538419.1:c.-115T>C XP_011536721.1:n.-115T>C
XM_011538419.3:c.-115T>C XP_011536721.1:n.-115T>C
XM_017019364.2:c.-485T>C XP_016874853.1:n.-485T>C
XM_017019365.2:c.-316T>C XP_016874854.1:n.-316T>C
XM_017019366.2:c.-652T>C XP_016874855.1:n.-652T>C
XM_017019367.2:c.-483T>C XP_016874856.1:n.-483T>C
XR_001749352.2:n.187-6158A>G
XR_001749354.2:n.187-6158A>G
NM_002562.6:c.29T>C MANE Select NP_002553.3:p.Val10Ala
NR_033948.2:n.124T>C
NR_033949.2:n.124T>C
NR_033950.2:n.124T>C
NR_033951.2:n.124T>C
NR_033952.2:n.124T>C
NR_033953.2:n.124T>C
NR_033954.2:n.124T>C
NR_033955.2:n.124T>C
NR_033956.2:n.124T>C