Canonical Allele Identifier: CA482148827
Gene: P2RX7 HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.121570806C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.121133003C>T , CM000674.2:g.121133003C>T GRCh38
NC_000012.11:g.121570806C>T , CM000674.1:g.121570806C>T GRCh37
NC_000012.10:g.120055189C>T NCBI36
NG_011471.2:g.5129C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000328963.10:c.33C>T MANE Select ENSP00000330696.6:p.Phe11=
ENST00000261826.10:c.33C>T ENSP00000261826.6:p.Phe11=
ENST00000328963.9:c.33C>T ENSP00000330696.6:p.Phe11=
ENST00000535250.5:c.33C>T ENSP00000442572.2:p.Phe11=
ENST00000535600.2:c.33C>T ENSP00000442470.1:p.Phe11=
ENST00000535928.5:c.33C>T ENSP00000439961.1:p.Phe11=
ENST00000537312.5:c.33C>T ENSP00000438586.1:p.Phe11=
ENST00000538011.5:c.33C>T ENSP00000439247.1:p.Phe11=
ENST00000539606.5:c.33C>T ENSP00000445325.1:p.Phe11=
ENST00000539695.5:n.102C>T
ENST00000541022.5:c.33C>T ENSP00000441230.1:p.Phe11=
ENST00000541564.5:c.33C>T ENSP00000443640.1:p.Phe11=
ENST00000541716.5:c.33C>T ENSP00000437729.1:p.Phe11=
ENST00000545434.5:c.33C>T ENSP00000445564.1:p.Phe11=
NM_002562.5:c.33C>T NP_002553.3:p.Phe11=
NR_033948.1:n.176C>T
NR_033949.1:n.176C>T
NR_033950.1:n.176C>T
NR_033951.1:n.176C>T
NR_033952.1:n.176C>T
NR_033953.1:n.185C>T
NR_033954.1:n.176C>T
NR_033955.1:n.176C>T
NR_033956.1:n.176C>T
XM_011538418.1:c.33C>T XP_011536720.1:p.Phe11=
XM_011538419.1:c.-111C>T XP_011536721.1:n.-111C>T
XM_011538419.3:c.-111C>T XP_011536721.1:n.-111C>T
XM_017019364.2:c.-481C>T XP_016874853.1:n.-481C>T
XM_017019365.2:c.-312C>T XP_016874854.1:n.-312C>T
XM_017019366.2:c.-648C>T XP_016874855.1:n.-648C>T
XM_017019367.2:c.-479C>T XP_016874856.1:n.-479C>T
XR_001749352.2:n.187-6162G>A
XR_001749354.2:n.187-6162G>A
NM_002562.6:c.33C>T MANE Select NP_002553.3:p.Phe11=
NR_033948.2:n.128C>T
NR_033949.2:n.128C>T
NR_033950.2:n.128C>T
NR_033951.2:n.128C>T
NR_033952.2:n.128C>T
NR_033953.2:n.128C>T
NR_033954.2:n.128C>T
NR_033955.2:n.128C>T
NR_033956.2:n.128C>T