Canonical Allele Identifier: CA482159130

Gene: P2RX7

Linked Data

• MyVariant Identifiers: chr12:g.121615138C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121177335C>T , CM000674.2:g.121177335C>T	GRCh38
NC_000012.11:g.121615138C>T , CM000674.1:g.121615138C>T	GRCh37
NC_000012.10:g.120099521C>T	NCBI36
NG_011471.2:g.49461C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328963.10:c.1077C>T MANE Select	ENSP00000330696.6:p.Ser359=
ENST00000261826.10:c.*530C>T	ENSP00000261826.6:n.*530C>T
ENST00000328963.9:c.1077C>T	ENSP00000330696.6:p.Ser359=
ENST00000535250.5:c.1161C>T	ENSP00000442572.2:n.1161C>T
ENST00000535600.2:c.894C>T	ENSP00000442470.1:n.894C>T
ENST00000537312.5:c.*848C>T	ENSP00000438586.1:n.*848C>T
ENST00000538011.5:c.1216C>T	ENSP00000439247.1:n.1216C>T
ENST00000539606.5:c.1300C>T	ENSP00000445325.1:n.1300C>T
ENST00000539695.5:n.1246C>T
ENST00000541022.5:c.867C>T	ENSP00000441230.1:n.867C>T
ENST00000541564.5:c.940C>T	ENSP00000443640.1:n.940C>T
ENST00000541716.5:c.1088C>T	ENSP00000437729.1:n.1088C>T
NM_002562.5:c.1077C>T	NP_002553.3:p.Ser359=
NR_033948.1:n.1443C>T
NR_033949.1:n.1359C>T
NR_033950.1:n.1320C>T
NR_033951.1:n.1304C>T
NR_033952.1:n.1231C>T
NR_033953.1:n.1144C>T
NR_033954.1:n.1123C>T
NR_033955.1:n.1083C>T
NR_033956.1:n.1010C>T
XM_011538418.1:c.810C>T	XP_011536720.1:p.Ser270=
XM_011538419.1:c.765C>T	XP_011536721.1:p.Ser255=
XM_011538420.1:c.210C>T	XP_011536722.1:p.Ser70=
XR_945459.1:n.190-14918G>A
XR_945460.1:n.299-14918G>A
XM_011538419.3:c.765C>T	XP_011536721.1:p.Ser255=
XM_011538420.3:c.210C>T	XP_011536722.1:p.Ser70=
XM_017019364.2:c.717C>T	XP_016874853.1:p.Ser239=
XM_017019365.2:c.717C>T	XP_016874854.1:p.Ser239=
XM_017019366.2:c.324C>T	XP_016874855.1:p.Ser108=
XM_017019367.2:c.324C>T	XP_016874856.1:p.Ser108=
XR_001749352.2:n.186+26163G>A
XR_001749353.2:n.304-14918G>A
XR_001749354.2:n.186+26163G>A
XR_945459.3:n.187-14918G>A
XR_945460.3:n.299-14918G>A
NM_002562.6:c.1077C>T MANE Select	NP_002553.3:p.Ser359=
NR_033948.2:n.1395C>T
NR_033949.2:n.1311C>T
NR_033950.2:n.1272C>T
NR_033951.2:n.1256C>T
NR_033952.2:n.1183C>T
NR_033953.2:n.1087C>T
NR_033954.2:n.1075C>T
NR_033955.2:n.1035C>T
NR_033956.2:n.962C>T