Canonical Allele Identifier: CA386959622

Gene: P2RX7

Linked Data

• MyVariant Identifiers: chr12:g.121615179G>T (hg19) ; chr12:g.121177376G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121177376G>T , CM000674.2:g.121177376G>T	GRCh38
NC_000012.11:g.121615179G>T , CM000674.1:g.121615179G>T	GRCh37
NC_000012.10:g.120099562G>T	NCBI36
NG_011471.2:g.49502G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328963.10:c.1118G>T MANE Select	ENSP00000330696.6:p.Cys373Phe
ENST00000261826.10:c.*571G>T	ENSP00000261826.6:n.*571G>T
ENST00000328963.9:c.1118G>T	ENSP00000330696.6:p.Cys373Phe
ENST00000535250.5:c.1202G>T	ENSP00000442572.2:n.1202G>T
ENST00000535600.2:c.935G>T	ENSP00000442470.1:n.935G>T
ENST00000537312.5:c.*889G>T	ENSP00000438586.1:n.*889G>T
ENST00000538011.5:c.1257G>T	ENSP00000439247.1:n.1257G>T
ENST00000539606.5:c.1341G>T	ENSP00000445325.1:n.1341G>T
ENST00000539695.5:n.1287G>T
ENST00000541022.5:c.908G>T	ENSP00000441230.1:n.908G>T
ENST00000541564.5:c.981G>T	ENSP00000443640.1:n.981G>T
ENST00000541716.5:c.1129G>T	ENSP00000437729.1:n.1129G>T
NM_002562.5:c.1118G>T	NP_002553.3:p.Cys373Phe
NR_033948.1:n.1484G>T
NR_033949.1:n.1400G>T
NR_033950.1:n.1361G>T
NR_033951.1:n.1345G>T
NR_033952.1:n.1272G>T
NR_033953.1:n.1185G>T
NR_033954.1:n.1164G>T
NR_033955.1:n.1124G>T
NR_033956.1:n.1051G>T
XM_011538418.1:c.851G>T	XP_011536720.1:p.Cys284Phe
XM_011538419.1:c.806G>T	XP_011536721.1:p.Cys269Phe
XM_011538420.1:c.251G>T	XP_011536722.1:p.Cys84Phe
XR_945459.1:n.190-14959C>A
XR_945460.1:n.299-14959C>A
XM_011538419.3:c.806G>T	XP_011536721.1:p.Cys269Phe
XM_011538420.3:c.251G>T	XP_011536722.1:p.Cys84Phe
XM_017019364.2:c.758G>T	XP_016874853.1:p.Cys253Phe
XM_017019365.2:c.758G>T	XP_016874854.1:p.Cys253Phe
XM_017019366.2:c.365G>T	XP_016874855.1:p.Cys122Phe
XM_017019367.2:c.365G>T	XP_016874856.1:p.Cys122Phe
XR_001749352.2:n.186+26122C>A
XR_001749353.2:n.304-14959C>A
XR_001749354.2:n.186+26122C>A
XR_945459.3:n.187-14959C>A
XR_945460.3:n.299-14959C>A
NM_002562.6:c.1118G>T MANE Select	NP_002553.3:p.Cys373Phe
NR_033948.2:n.1436G>T
NR_033949.2:n.1352G>T
NR_033950.2:n.1313G>T
NR_033951.2:n.1297G>T
NR_033952.2:n.1224G>T
NR_033953.2:n.1128G>T
NR_033954.2:n.1116G>T
NR_033955.2:n.1076G>T
NR_033956.2:n.1003G>T