Canonical Allele Identifier: CA386959710

Gene: P2RX7

Linked Data

• MyVariant Identifiers: chr12:g.121615185A>T (hg19) ; chr12:g.121177382A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121177382A>T , CM000674.2:g.121177382A>T	GRCh38
NC_000012.11:g.121615185A>T , CM000674.1:g.121615185A>T	GRCh37
NC_000012.10:g.120099568A>T	NCBI36
NG_011471.2:g.49508A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328963.10:c.1124A>T MANE Select	ENSP00000330696.6:p.Gln375Leu
ENST00000261826.10:c.*577A>T	ENSP00000261826.6:n.*577A>T
ENST00000328963.9:c.1124A>T	ENSP00000330696.6:p.Gln375Leu
ENST00000535250.5:c.1208A>T	ENSP00000442572.2:n.1208A>T
ENST00000535600.2:c.941A>T	ENSP00000442470.1:n.941A>T
ENST00000537312.5:c.*895A>T	ENSP00000438586.1:n.*895A>T
ENST00000538011.5:c.1263A>T	ENSP00000439247.1:n.1263A>T
ENST00000539606.5:c.1347A>T	ENSP00000445325.1:n.1347A>T
ENST00000539695.5:n.1293A>T
ENST00000541022.5:c.914A>T	ENSP00000441230.1:n.914A>T
ENST00000541564.5:c.987A>T	ENSP00000443640.1:n.987A>T
ENST00000541716.5:c.1135A>T	ENSP00000437729.1:n.1135A>T
NM_002562.5:c.1124A>T	NP_002553.3:p.Gln375Leu
NR_033948.1:n.1490A>T
NR_033949.1:n.1406A>T
NR_033950.1:n.1367A>T
NR_033951.1:n.1351A>T
NR_033952.1:n.1278A>T
NR_033953.1:n.1191A>T
NR_033954.1:n.1170A>T
NR_033955.1:n.1130A>T
NR_033956.1:n.1057A>T
XM_011538418.1:c.857A>T	XP_011536720.1:p.Gln286Leu
XM_011538419.1:c.812A>T	XP_011536721.1:p.Gln271Leu
XM_011538420.1:c.257A>T	XP_011536722.1:p.Gln86Leu
XR_945459.1:n.190-14965T>A
XR_945460.1:n.299-14965T>A
XM_011538419.3:c.812A>T	XP_011536721.1:p.Gln271Leu
XM_011538420.3:c.257A>T	XP_011536722.1:p.Gln86Leu
XM_017019364.2:c.764A>T	XP_016874853.1:p.Gln255Leu
XM_017019365.2:c.764A>T	XP_016874854.1:p.Gln255Leu
XM_017019366.2:c.371A>T	XP_016874855.1:p.Gln124Leu
XM_017019367.2:c.371A>T	XP_016874856.1:p.Gln124Leu
XR_001749352.2:n.186+26116T>A
XR_001749353.2:n.304-14965T>A
XR_001749354.2:n.186+26116T>A
XR_945459.3:n.187-14965T>A
XR_945460.3:n.299-14965T>A
NM_002562.6:c.1124A>T MANE Select	NP_002553.3:p.Gln375Leu
NR_033948.2:n.1442A>T
NR_033949.2:n.1358A>T
NR_033950.2:n.1319A>T
NR_033951.2:n.1303A>T
NR_033952.2:n.1230A>T
NR_033953.2:n.1134A>T
NR_033954.2:n.1122A>T
NR_033955.2:n.1082A>T
NR_033956.2:n.1009A>T