Canonical Allele Identifier: CA482159134

Gene: P2RX7

Linked Data

• MyVariant Identifiers: chr12:g.121615144C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121177341C>T , CM000674.2:g.121177341C>T	GRCh38
NC_000012.11:g.121615144C>T , CM000674.1:g.121615144C>T	GRCh37
NC_000012.10:g.120099527C>T	NCBI36
NG_011471.2:g.49467C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328963.10:c.1083C>T MANE Select	ENSP00000330696.6:p.Asn361=
ENST00000261826.10:c.*536C>T	ENSP00000261826.6:n.*536C>T
ENST00000328963.9:c.1083C>T	ENSP00000330696.6:p.Asn361=
ENST00000535250.5:c.1167C>T	ENSP00000442572.2:n.1167C>T
ENST00000535600.2:c.900C>T	ENSP00000442470.1:n.900C>T
ENST00000537312.5:c.*854C>T	ENSP00000438586.1:n.*854C>T
ENST00000538011.5:c.1222C>T	ENSP00000439247.1:n.1222C>T
ENST00000539606.5:c.1306C>T	ENSP00000445325.1:n.1306C>T
ENST00000539695.5:n.1252C>T
ENST00000541022.5:c.873C>T	ENSP00000441230.1:n.873C>T
ENST00000541564.5:c.946C>T	ENSP00000443640.1:n.946C>T
ENST00000541716.5:c.1094C>T	ENSP00000437729.1:n.1094C>T
NM_002562.5:c.1083C>T	NP_002553.3:p.Asn361=
NR_033948.1:n.1449C>T
NR_033949.1:n.1365C>T
NR_033950.1:n.1326C>T
NR_033951.1:n.1310C>T
NR_033952.1:n.1237C>T
NR_033953.1:n.1150C>T
NR_033954.1:n.1129C>T
NR_033955.1:n.1089C>T
NR_033956.1:n.1016C>T
XM_011538418.1:c.816C>T	XP_011536720.1:p.Asn272=
XM_011538419.1:c.771C>T	XP_011536721.1:p.Asn257=
XM_011538420.1:c.216C>T	XP_011536722.1:p.Asn72=
XR_945459.1:n.190-14924G>A
XR_945460.1:n.299-14924G>A
XM_011538419.3:c.771C>T	XP_011536721.1:p.Asn257=
XM_011538420.3:c.216C>T	XP_011536722.1:p.Asn72=
XM_017019364.2:c.723C>T	XP_016874853.1:p.Asn241=
XM_017019365.2:c.723C>T	XP_016874854.1:p.Asn241=
XM_017019366.2:c.330C>T	XP_016874855.1:p.Asn110=
XM_017019367.2:c.330C>T	XP_016874856.1:p.Asn110=
XR_001749352.2:n.186+26157G>A
XR_001749353.2:n.304-14924G>A
XR_001749354.2:n.186+26157G>A
XR_945459.3:n.187-14924G>A
XR_945460.3:n.299-14924G>A
NM_002562.6:c.1083C>T MANE Select	NP_002553.3:p.Asn361=
NR_033948.2:n.1401C>T
NR_033949.2:n.1317C>T
NR_033950.2:n.1278C>T
NR_033951.2:n.1262C>T
NR_033952.2:n.1189C>T
NR_033953.2:n.1093C>T
NR_033954.2:n.1081C>T
NR_033955.2:n.1041C>T
NR_033956.2:n.968C>T