Canonical Allele Identifier: CA386959949

Gene: P2RX7

Linked Data

• MyVariant Identifiers: chr12:g.121615212A>T (hg19) ; chr12:g.121177409A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121177409A>T , CM000674.2:g.121177409A>T	GRCh38
NC_000012.11:g.121615212A>T , CM000674.1:g.121615212A>T	GRCh37
NC_000012.10:g.120099595A>T	NCBI36
NG_011471.2:g.49535A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328963.10:c.1151A>T MANE Select	ENSP00000330696.6:p.Tyr384Phe
ENST00000261826.10:c.*604A>T	ENSP00000261826.6:n.*604A>T
ENST00000328963.9:c.1151A>T	ENSP00000330696.6:p.Tyr384Phe
ENST00000535250.5:c.1235A>T	ENSP00000442572.2:n.1235A>T
ENST00000535600.2:c.968A>T	ENSP00000442470.1:n.968A>T
ENST00000537312.5:c.*922A>T	ENSP00000438586.1:n.*922A>T
ENST00000538011.5:c.1290A>T	ENSP00000439247.1:n.1290A>T
ENST00000539606.5:c.1374A>T	ENSP00000445325.1:n.1374A>T
ENST00000539695.5:n.1320A>T
ENST00000541022.5:c.941A>T	ENSP00000441230.1:n.941A>T
ENST00000541564.5:c.1014A>T	ENSP00000443640.1:n.1014A>T
ENST00000541716.5:c.1162A>T	ENSP00000437729.1:n.1162A>T
NM_002562.5:c.1151A>T	NP_002553.3:p.Tyr384Phe
NR_033948.1:n.1517A>T
NR_033949.1:n.1433A>T
NR_033950.1:n.1394A>T
NR_033951.1:n.1378A>T
NR_033952.1:n.1305A>T
NR_033953.1:n.1218A>T
NR_033954.1:n.1197A>T
NR_033955.1:n.1157A>T
NR_033956.1:n.1084A>T
XM_011538418.1:c.884A>T	XP_011536720.1:p.Tyr295Phe
XM_011538419.1:c.839A>T	XP_011536721.1:p.Tyr280Phe
XM_011538420.1:c.284A>T	XP_011536722.1:p.Tyr95Phe
XR_945459.1:n.190-14992T>A
XR_945460.1:n.299-14992T>A
XM_011538419.3:c.839A>T	XP_011536721.1:p.Tyr280Phe
XM_011538420.3:c.284A>T	XP_011536722.1:p.Tyr95Phe
XM_017019364.2:c.791A>T	XP_016874853.1:p.Tyr264Phe
XM_017019365.2:c.791A>T	XP_016874854.1:p.Tyr264Phe
XM_017019366.2:c.398A>T	XP_016874855.1:p.Tyr133Phe
XM_017019367.2:c.398A>T	XP_016874856.1:p.Tyr133Phe
XR_001749352.2:n.186+26089T>A
XR_001749353.2:n.304-14992T>A
XR_001749354.2:n.186+26089T>A
XR_945459.3:n.187-14992T>A
XR_945460.3:n.299-14992T>A
NM_002562.6:c.1151A>T MANE Select	NP_002553.3:p.Tyr384Phe
NR_033948.2:n.1469A>T
NR_033949.2:n.1385A>T
NR_033950.2:n.1346A>T
NR_033951.2:n.1330A>T
NR_033952.2:n.1257A>T
NR_033953.2:n.1161A>T
NR_033954.2:n.1149A>T
NR_033955.2:n.1109A>T
NR_033956.2:n.1036A>T