Canonical Allele Identifier: CA386959346

Gene: P2RX7

Linked Data

• MyVariant Identifiers: chr12:g.121615152G>T (hg19) ; chr12:g.121177349G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121177349G>T , CM000674.2:g.121177349G>T	GRCh38
NC_000012.11:g.121615152G>T , CM000674.1:g.121615152G>T	GRCh37
NC_000012.10:g.120099535G>T	NCBI36
NG_011471.2:g.49475G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328963.10:c.1091G>T MANE Select	ENSP00000330696.6:p.Arg364Leu
ENST00000261826.10:c.*544G>T	ENSP00000261826.6:n.*544G>T
ENST00000328963.9:c.1091G>T	ENSP00000330696.6:p.Arg364Leu
ENST00000535250.5:c.1175G>T	ENSP00000442572.2:n.1175G>T
ENST00000535600.2:c.908G>T	ENSP00000442470.1:n.908G>T
ENST00000537312.5:c.*862G>T	ENSP00000438586.1:n.*862G>T
ENST00000538011.5:c.1230G>T	ENSP00000439247.1:n.1230G>T
ENST00000539606.5:c.1314G>T	ENSP00000445325.1:n.1314G>T
ENST00000539695.5:n.1260G>T
ENST00000541022.5:c.881G>T	ENSP00000441230.1:n.881G>T
ENST00000541564.5:c.954G>T	ENSP00000443640.1:n.954G>T
ENST00000541716.5:c.1102G>T	ENSP00000437729.1:n.1102G>T
NM_002562.5:c.1091G>T	NP_002553.3:p.Arg364Leu
NR_033948.1:n.1457G>T
NR_033949.1:n.1373G>T
NR_033950.1:n.1334G>T
NR_033951.1:n.1318G>T
NR_033952.1:n.1245G>T
NR_033953.1:n.1158G>T
NR_033954.1:n.1137G>T
NR_033955.1:n.1097G>T
NR_033956.1:n.1024G>T
XM_011538418.1:c.824G>T	XP_011536720.1:p.Arg275Leu
XM_011538419.1:c.779G>T	XP_011536721.1:p.Arg260Leu
XM_011538420.1:c.224G>T	XP_011536722.1:p.Arg75Leu
XR_945459.1:n.190-14932C>A
XR_945460.1:n.299-14932C>A
XM_011538419.3:c.779G>T	XP_011536721.1:p.Arg260Leu
XM_011538420.3:c.224G>T	XP_011536722.1:p.Arg75Leu
XM_017019364.2:c.731G>T	XP_016874853.1:p.Arg244Leu
XM_017019365.2:c.731G>T	XP_016874854.1:p.Arg244Leu
XM_017019366.2:c.338G>T	XP_016874855.1:p.Arg113Leu
XM_017019367.2:c.338G>T	XP_016874856.1:p.Arg113Leu
XR_001749352.2:n.186+26149C>A
XR_001749353.2:n.304-14932C>A
XR_001749354.2:n.186+26149C>A
XR_945459.3:n.187-14932C>A
XR_945460.3:n.299-14932C>A
NM_002562.6:c.1091G>T MANE Select	NP_002553.3:p.Arg364Leu
NR_033948.2:n.1409G>T
NR_033949.2:n.1325G>T
NR_033950.2:n.1286G>T
NR_033951.2:n.1270G>T
NR_033952.2:n.1197G>T
NR_033953.2:n.1101G>T
NR_033954.2:n.1089G>T
NR_033955.2:n.1049G>T
NR_033956.2:n.976G>T