Canonical Allele Identifier: CA244546373

Gene: P2RX7

Linked Data

• dbSNP Id: rs866189341
• MyVariant Identifiers: chr12:g.121615167C>T (hg19) ; chr12:g.121177364C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121177364C>T , CM000674.2:g.121177364C>T	GRCh38
NC_000012.11:g.121615167C>T , CM000674.1:g.121615167C>T	GRCh37
NC_000012.10:g.120099550C>T	NCBI36
NG_011471.2:g.49490C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328963.10:c.1106C>T MANE Select	ENSP00000330696.6:p.Pro369Leu
ENST00000261826.10:c.*559C>T	ENSP00000261826.6:n.*559C>T
ENST00000328963.9:c.1106C>T	ENSP00000330696.6:p.Pro369Leu
ENST00000535250.5:c.1190C>T	ENSP00000442572.2:n.1190C>T
ENST00000535600.2:c.923C>T	ENSP00000442470.1:n.923C>T
ENST00000537312.5:c.*877C>T	ENSP00000438586.1:n.*877C>T
ENST00000538011.5:c.1245C>T	ENSP00000439247.1:n.1245C>T
ENST00000539606.5:c.1329C>T	ENSP00000445325.1:n.1329C>T
ENST00000539695.5:n.1275C>T
ENST00000541022.5:c.896C>T	ENSP00000441230.1:n.896C>T
ENST00000541564.5:c.969C>T	ENSP00000443640.1:n.969C>T
ENST00000541716.5:c.1117C>T	ENSP00000437729.1:n.1117C>T
NM_002562.5:c.1106C>T	NP_002553.3:p.Pro369Leu
NR_033948.1:n.1472C>T
NR_033949.1:n.1388C>T
NR_033950.1:n.1349C>T
NR_033951.1:n.1333C>T
NR_033952.1:n.1260C>T
NR_033953.1:n.1173C>T
NR_033954.1:n.1152C>T
NR_033955.1:n.1112C>T
NR_033956.1:n.1039C>T
XM_011538418.1:c.839C>T	XP_011536720.1:p.Pro280Leu
XM_011538419.1:c.794C>T	XP_011536721.1:p.Pro265Leu
XM_011538420.1:c.239C>T	XP_011536722.1:p.Pro80Leu
XR_945459.1:n.190-14947G>A
XR_945460.1:n.299-14947G>A
XM_011538419.3:c.794C>T	XP_011536721.1:p.Pro265Leu
XM_011538420.3:c.239C>T	XP_011536722.1:p.Pro80Leu
XM_017019364.2:c.746C>T	XP_016874853.1:p.Pro249Leu
XM_017019365.2:c.746C>T	XP_016874854.1:p.Pro249Leu
XM_017019366.2:c.353C>T	XP_016874855.1:p.Pro118Leu
XM_017019367.2:c.353C>T	XP_016874856.1:p.Pro118Leu
XR_001749352.2:n.186+26134G>A
XR_001749353.2:n.304-14947G>A
XR_001749354.2:n.186+26134G>A
XR_945459.3:n.187-14947G>A
XR_945460.3:n.299-14947G>A
NM_002562.6:c.1106C>T MANE Select	NP_002553.3:p.Pro369Leu
NR_033948.2:n.1424C>T
NR_033949.2:n.1340C>T
NR_033950.2:n.1301C>T
NR_033951.2:n.1285C>T
NR_033952.2:n.1212C>T
NR_033953.2:n.1116C>T
NR_033954.2:n.1104C>T
NR_033955.2:n.1064C>T
NR_033956.2:n.991C>T