Canonical Allele Identifier: CA386960024

Gene: P2RX7

Linked Data

• MyVariant Identifiers: chr12:g.121615221A>C (hg19) ; chr12:g.121177418A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121177418A>C , CM000674.2:g.121177418A>C	GRCh38
NC_000012.11:g.121615221A>C , CM000674.1:g.121615221A>C	GRCh37
NC_000012.10:g.120099604A>C	NCBI36
NG_011471.2:g.49544A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328963.10:c.1160A>C MANE Select	ENSP00000330696.6:p.Lys387Thr
ENST00000261826.10:c.*613A>C	ENSP00000261826.6:n.*613A>C
ENST00000328963.9:c.1160A>C	ENSP00000330696.6:p.Lys387Thr
ENST00000535250.5:c.1244A>C	ENSP00000442572.2:n.1244A>C
ENST00000535600.2:c.977A>C	ENSP00000442470.1:n.977A>C
ENST00000537312.5:c.*931A>C	ENSP00000438586.1:n.*931A>C
ENST00000538011.5:c.1299A>C	ENSP00000439247.1:n.1299A>C
ENST00000539606.5:c.1383A>C	ENSP00000445325.1:n.1383A>C
ENST00000539695.5:n.1329A>C
ENST00000541022.5:c.950A>C	ENSP00000441230.1:n.950A>C
ENST00000541564.5:c.1023A>C	ENSP00000443640.1:n.1023A>C
ENST00000541716.5:c.1171A>C	ENSP00000437729.1:n.1171A>C
NM_002562.5:c.1160A>C	NP_002553.3:p.Lys387Thr
NR_033948.1:n.1526A>C
NR_033949.1:n.1442A>C
NR_033950.1:n.1403A>C
NR_033951.1:n.1387A>C
NR_033952.1:n.1314A>C
NR_033953.1:n.1227A>C
NR_033954.1:n.1206A>C
NR_033955.1:n.1166A>C
NR_033956.1:n.1093A>C
XM_011538418.1:c.893A>C	XP_011536720.1:p.Lys298Thr
XM_011538419.1:c.848A>C	XP_011536721.1:p.Lys283Thr
XM_011538420.1:c.293A>C	XP_011536722.1:p.Lys98Thr
XR_945459.1:n.190-15001T>G
XR_945460.1:n.299-15001T>G
XM_011538419.3:c.848A>C	XP_011536721.1:p.Lys283Thr
XM_011538420.3:c.293A>C	XP_011536722.1:p.Lys98Thr
XM_017019364.2:c.800A>C	XP_016874853.1:p.Lys267Thr
XM_017019365.2:c.800A>C	XP_016874854.1:p.Lys267Thr
XM_017019366.2:c.407A>C	XP_016874855.1:p.Lys136Thr
XM_017019367.2:c.407A>C	XP_016874856.1:p.Lys136Thr
XR_001749352.2:n.186+26080T>G
XR_001749353.2:n.304-15001T>G
XR_001749354.2:n.186+26080T>G
XR_945459.3:n.187-15001T>G
XR_945460.3:n.299-15001T>G
NM_002562.6:c.1160A>C MANE Select	NP_002553.3:p.Lys387Thr
NR_033948.2:n.1478A>C
NR_033949.2:n.1394A>C
NR_033950.2:n.1355A>C
NR_033951.2:n.1339A>C
NR_033952.2:n.1266A>C
NR_033953.2:n.1170A>C
NR_033954.2:n.1158A>C
NR_033955.2:n.1118A>C
NR_033956.2:n.1045A>C