Canonical Allele Identifier: CA482159161
Gene: P2RX7 HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.121615189C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.121177386C>A , CM000674.2:g.121177386C>A GRCh38
NC_000012.11:g.121615189C>A , CM000674.1:g.121615189C>A GRCh37
NC_000012.10:g.120099572C>A NCBI36
NG_011471.2:g.49512C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000328963.10:c.1128C>A MANE Select ENSP00000330696.6:p.Pro376=
ENST00000261826.10:c.*581C>A ENSP00000261826.6:n.*581C>A
ENST00000328963.9:c.1128C>A ENSP00000330696.6:p.Pro376=
ENST00000535250.5:c.1212C>A ENSP00000442572.2:n.1212C>A
ENST00000535600.2:c.945C>A ENSP00000442470.1:n.945C>A
ENST00000537312.5:c.*899C>A ENSP00000438586.1:n.*899C>A
ENST00000538011.5:c.1267C>A ENSP00000439247.1:n.1267C>A
ENST00000539606.5:c.1351C>A ENSP00000445325.1:n.1351C>A
ENST00000539695.5:n.1297C>A
ENST00000541022.5:c.918C>A ENSP00000441230.1:n.918C>A
ENST00000541564.5:c.991C>A ENSP00000443640.1:n.991C>A
ENST00000541716.5:c.1139C>A ENSP00000437729.1:n.1139C>A
NM_002562.5:c.1128C>A NP_002553.3:p.Pro376=
NR_033948.1:n.1494C>A
NR_033949.1:n.1410C>A
NR_033950.1:n.1371C>A
NR_033951.1:n.1355C>A
NR_033952.1:n.1282C>A
NR_033953.1:n.1195C>A
NR_033954.1:n.1174C>A
NR_033955.1:n.1134C>A
NR_033956.1:n.1061C>A
XM_011538418.1:c.861C>A XP_011536720.1:p.Pro287=
XM_011538419.1:c.816C>A XP_011536721.1:p.Pro272=
XM_011538420.1:c.261C>A XP_011536722.1:p.Pro87=
XR_945459.1:n.190-14969G>T
XR_945460.1:n.299-14969G>T
XM_011538419.3:c.816C>A XP_011536721.1:p.Pro272=
XM_011538420.3:c.261C>A XP_011536722.1:p.Pro87=
XM_017019364.2:c.768C>A XP_016874853.1:p.Pro256=
XM_017019365.2:c.768C>A XP_016874854.1:p.Pro256=
XM_017019366.2:c.375C>A XP_016874855.1:p.Pro125=
XM_017019367.2:c.375C>A XP_016874856.1:p.Pro125=
XR_001749352.2:n.186+26112G>T
XR_001749353.2:n.304-14969G>T
XR_001749354.2:n.186+26112G>T
XR_945459.3:n.187-14969G>T
XR_945460.3:n.299-14969G>T
NM_002562.6:c.1128C>A MANE Select NP_002553.3:p.Pro376=
NR_033948.2:n.1446C>A
NR_033949.2:n.1362C>A
NR_033950.2:n.1323C>A
NR_033951.2:n.1307C>A
NR_033952.2:n.1234C>A
NR_033953.2:n.1138C>A
NR_033954.2:n.1126C>A
NR_033955.2:n.1086C>A
NR_033956.2:n.1013C>A