Canonical Allele Identifier: CA386959756

Gene: P2RX7

Linked Data

• MyVariant Identifiers: chr12:g.121615191G>T (hg19) ; chr12:g.121177388G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121177388G>T , CM000674.2:g.121177388G>T	GRCh38
NC_000012.11:g.121615191G>T , CM000674.1:g.121615191G>T	GRCh37
NC_000012.10:g.120099574G>T	NCBI36
NG_011471.2:g.49514G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328963.10:c.1130G>T MANE Select	ENSP00000330696.6:p.Cys377Phe
ENST00000261826.10:c.*583G>T	ENSP00000261826.6:n.*583G>T
ENST00000328963.9:c.1130G>T	ENSP00000330696.6:p.Cys377Phe
ENST00000535250.5:c.1214G>T	ENSP00000442572.2:n.1214G>T
ENST00000535600.2:c.947G>T	ENSP00000442470.1:n.947G>T
ENST00000537312.5:c.*901G>T	ENSP00000438586.1:n.*901G>T
ENST00000538011.5:c.1269G>T	ENSP00000439247.1:n.1269G>T
ENST00000539606.5:c.1353G>T	ENSP00000445325.1:n.1353G>T
ENST00000539695.5:n.1299G>T
ENST00000541022.5:c.920G>T	ENSP00000441230.1:n.920G>T
ENST00000541564.5:c.993G>T	ENSP00000443640.1:n.993G>T
ENST00000541716.5:c.1141G>T	ENSP00000437729.1:n.1141G>T
NM_002562.5:c.1130G>T	NP_002553.3:p.Cys377Phe
NR_033948.1:n.1496G>T
NR_033949.1:n.1412G>T
NR_033950.1:n.1373G>T
NR_033951.1:n.1357G>T
NR_033952.1:n.1284G>T
NR_033953.1:n.1197G>T
NR_033954.1:n.1176G>T
NR_033955.1:n.1136G>T
NR_033956.1:n.1063G>T
XM_011538418.1:c.863G>T	XP_011536720.1:p.Cys288Phe
XM_011538419.1:c.818G>T	XP_011536721.1:p.Cys273Phe
XM_011538420.1:c.263G>T	XP_011536722.1:p.Cys88Phe
XR_945459.1:n.190-14971C>A
XR_945460.1:n.299-14971C>A
XM_011538419.3:c.818G>T	XP_011536721.1:p.Cys273Phe
XM_011538420.3:c.263G>T	XP_011536722.1:p.Cys88Phe
XM_017019364.2:c.770G>T	XP_016874853.1:p.Cys257Phe
XM_017019365.2:c.770G>T	XP_016874854.1:p.Cys257Phe
XM_017019366.2:c.377G>T	XP_016874855.1:p.Cys126Phe
XM_017019367.2:c.377G>T	XP_016874856.1:p.Cys126Phe
XR_001749352.2:n.186+26110C>A
XR_001749353.2:n.304-14971C>A
XR_001749354.2:n.186+26110C>A
XR_945459.3:n.187-14971C>A
XR_945460.3:n.299-14971C>A
NM_002562.6:c.1130G>T MANE Select	NP_002553.3:p.Cys377Phe
NR_033948.2:n.1448G>T
NR_033949.2:n.1364G>T
NR_033950.2:n.1325G>T
NR_033951.2:n.1309G>T
NR_033952.2:n.1236G>T
NR_033953.2:n.1140G>T
NR_033954.2:n.1128G>T
NR_033955.2:n.1088G>T
NR_033956.2:n.1015G>T