Canonical Allele Identifier: CA386959438

Gene: P2RX7

Linked Data

• MyVariant Identifiers: chr12:g.121615161T>G (hg19) ; chr12:g.121177358T>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328963.10:c.1100T>G MANE Select	ENSP00000330696.6:p.Ile367Ser
ENST00000261826.10:c.*553T>G	ENSP00000261826.6:n.*553T>G
ENST00000328963.9:c.1100T>G	ENSP00000330696.6:p.Ile367Ser
ENST00000535250.5:c.1184T>G	ENSP00000442572.2:n.1184T>G
ENST00000535600.2:c.917T>G	ENSP00000442470.1:n.917T>G
ENST00000537312.5:c.*871T>G	ENSP00000438586.1:n.*871T>G
ENST00000538011.5:c.1239T>G	ENSP00000439247.1:n.1239T>G
ENST00000539606.5:c.1323T>G	ENSP00000445325.1:n.1323T>G
ENST00000539695.5:n.1269T>G
ENST00000541022.5:c.890T>G	ENSP00000441230.1:n.890T>G
ENST00000541564.5:c.963T>G	ENSP00000443640.1:n.963T>G
ENST00000541716.5:c.1111T>G	ENSP00000437729.1:n.1111T>G
NM_002562.5:c.1100T>G	NP_002553.3:p.Ile367Ser
NR_033948.1:n.1466T>G
NR_033949.1:n.1382T>G
NR_033950.1:n.1343T>G
NR_033951.1:n.1327T>G
NR_033952.1:n.1254T>G
NR_033953.1:n.1167T>G
NR_033954.1:n.1146T>G
NR_033955.1:n.1106T>G
NR_033956.1:n.1033T>G
XM_011538418.1:c.833T>G	XP_011536720.1:p.Ile278Ser
XM_011538419.1:c.788T>G	XP_011536721.1:p.Ile263Ser
XM_011538420.1:c.233T>G	XP_011536722.1:p.Ile78Ser
XR_945459.1:n.190-14941A>C
XR_945460.1:n.299-14941A>C
XM_011538419.3:c.788T>G	XP_011536721.1:p.Ile263Ser
XM_011538420.3:c.233T>G	XP_011536722.1:p.Ile78Ser
XM_017019364.2:c.740T>G	XP_016874853.1:p.Ile247Ser
XM_017019365.2:c.740T>G	XP_016874854.1:p.Ile247Ser
XM_017019366.2:c.347T>G	XP_016874855.1:p.Ile116Ser
XM_017019367.2:c.347T>G	XP_016874856.1:p.Ile116Ser
XR_001749352.2:n.186+26140A>C
XR_001749353.2:n.304-14941A>C
XR_001749354.2:n.186+26140A>C
XR_945459.3:n.187-14941A>C
XR_945460.3:n.299-14941A>C
NM_002562.6:c.1100T>G MANE Select	NP_002553.3:p.Ile367Ser
NR_033948.2:n.1418T>G
NR_033949.2:n.1334T>G
NR_033950.2:n.1295T>G
NR_033951.2:n.1279T>G
NR_033952.2:n.1206T>G
NR_033953.2:n.1110T>G
NR_033954.2:n.1098T>G
NR_033955.2:n.1058T>G
NR_033956.2:n.985T>G