Canonical Allele Identifier: CA6833529

Gene: P2RX7

Linked Data

• dbSNP Id: rs61743820
• ExAC: 12:121615161 T / C
• gnomAD v2: 12-121615161-T-C
• gnomAD v3: 12-121177358-T-C
• gnomAD v4: 12-121177358-T-C
• MyVariant Identifiers: chr12:g.121615161T>C (hg19) ; chr12:g.121177358T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121177358T>C , CM000674.2:g.121177358T>C	GRCh38
NC_000012.11:g.121615161T>C , CM000674.1:g.121615161T>C	GRCh37
NC_000012.10:g.120099544T>C	NCBI36
NG_011471.2:g.49484T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328963.10:c.1100T>C MANE Select	ENSP00000330696.6:p.Ile367Thr
ENST00000261826.10:c.*553T>C	ENSP00000261826.6:n.*553T>C
ENST00000328963.9:c.1100T>C	ENSP00000330696.6:p.Ile367Thr
ENST00000535250.5:c.1184T>C	ENSP00000442572.2:n.1184T>C
ENST00000535600.2:c.917T>C	ENSP00000442470.1:n.917T>C
ENST00000537312.5:c.*871T>C	ENSP00000438586.1:n.*871T>C
ENST00000538011.5:c.1239T>C	ENSP00000439247.1:n.1239T>C
ENST00000539606.5:c.1323T>C	ENSP00000445325.1:n.1323T>C
ENST00000539695.5:n.1269T>C
ENST00000541022.5:c.890T>C	ENSP00000441230.1:n.890T>C
ENST00000541564.5:c.963T>C	ENSP00000443640.1:n.963T>C
ENST00000541716.5:c.1111T>C	ENSP00000437729.1:n.1111T>C
NM_002562.5:c.1100T>C	NP_002553.3:p.Ile367Thr
NR_033948.1:n.1466T>C
NR_033949.1:n.1382T>C
NR_033950.1:n.1343T>C
NR_033951.1:n.1327T>C
NR_033952.1:n.1254T>C
NR_033953.1:n.1167T>C
NR_033954.1:n.1146T>C
NR_033955.1:n.1106T>C
NR_033956.1:n.1033T>C
XM_011538418.1:c.833T>C	XP_011536720.1:p.Ile278Thr
XM_011538419.1:c.788T>C	XP_011536721.1:p.Ile263Thr
XM_011538420.1:c.233T>C	XP_011536722.1:p.Ile78Thr
XR_945459.1:n.190-14941A>G
XR_945460.1:n.299-14941A>G
XM_011538419.3:c.788T>C	XP_011536721.1:p.Ile263Thr
XM_011538420.3:c.233T>C	XP_011536722.1:p.Ile78Thr
XM_017019364.2:c.740T>C	XP_016874853.1:p.Ile247Thr
XM_017019365.2:c.740T>C	XP_016874854.1:p.Ile247Thr
XM_017019366.2:c.347T>C	XP_016874855.1:p.Ile116Thr
XM_017019367.2:c.347T>C	XP_016874856.1:p.Ile116Thr
XR_001749352.2:n.186+26140A>G
XR_001749353.2:n.304-14941A>G
XR_001749354.2:n.186+26140A>G
XR_945459.3:n.187-14941A>G
XR_945460.3:n.299-14941A>G
NM_002562.6:c.1100T>C MANE Select	NP_002553.3:p.Ile367Thr
NR_033948.2:n.1418T>C
NR_033949.2:n.1334T>C
NR_033950.2:n.1295T>C
NR_033951.2:n.1279T>C
NR_033952.2:n.1206T>C
NR_033953.2:n.1110T>C
NR_033954.2:n.1098T>C
NR_033955.2:n.1058T>C
NR_033956.2:n.985T>C