Canonical Allele Identifier: CA386959923

Gene: P2RX7

Linked Data

• MyVariant Identifiers: chr12:g.121615208T>A (hg19) ; chr12:g.121177405T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121177405T>A , CM000674.2:g.121177405T>A	GRCh38
NC_000012.11:g.121615208T>A , CM000674.1:g.121615208T>A	GRCh37
NC_000012.10:g.120099591T>A	NCBI36
NG_011471.2:g.49531T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328963.10:c.1147T>A MANE Select	ENSP00000330696.6:p.Tyr383Asn
ENST00000261826.10:c.*600T>A	ENSP00000261826.6:n.*600T>A
ENST00000328963.9:c.1147T>A	ENSP00000330696.6:p.Tyr383Asn
ENST00000535250.5:c.1231T>A	ENSP00000442572.2:n.1231T>A
ENST00000535600.2:c.964T>A	ENSP00000442470.1:n.964T>A
ENST00000537312.5:c.*918T>A	ENSP00000438586.1:n.*918T>A
ENST00000538011.5:c.1286T>A	ENSP00000439247.1:n.1286T>A
ENST00000539606.5:c.1370T>A	ENSP00000445325.1:n.1370T>A
ENST00000539695.5:n.1316T>A
ENST00000541022.5:c.937T>A	ENSP00000441230.1:n.937T>A
ENST00000541564.5:c.1010T>A	ENSP00000443640.1:n.1010T>A
ENST00000541716.5:c.1158T>A	ENSP00000437729.1:n.1158T>A
NM_002562.5:c.1147T>A	NP_002553.3:p.Tyr383Asn
NR_033948.1:n.1513T>A
NR_033949.1:n.1429T>A
NR_033950.1:n.1390T>A
NR_033951.1:n.1374T>A
NR_033952.1:n.1301T>A
NR_033953.1:n.1214T>A
NR_033954.1:n.1193T>A
NR_033955.1:n.1153T>A
NR_033956.1:n.1080T>A
XM_011538418.1:c.880T>A	XP_011536720.1:p.Tyr294Asn
XM_011538419.1:c.835T>A	XP_011536721.1:p.Tyr279Asn
XM_011538420.1:c.280T>A	XP_011536722.1:p.Tyr94Asn
XR_945459.1:n.190-14988A>T
XR_945460.1:n.299-14988A>T
XM_011538419.3:c.835T>A	XP_011536721.1:p.Tyr279Asn
XM_011538420.3:c.280T>A	XP_011536722.1:p.Tyr94Asn
XM_017019364.2:c.787T>A	XP_016874853.1:p.Tyr263Asn
XM_017019365.2:c.787T>A	XP_016874854.1:p.Tyr263Asn
XM_017019366.2:c.394T>A	XP_016874855.1:p.Tyr132Asn
XM_017019367.2:c.394T>A	XP_016874856.1:p.Tyr132Asn
XR_001749352.2:n.186+26093A>T
XR_001749353.2:n.304-14988A>T
XR_001749354.2:n.186+26093A>T
XR_945459.3:n.187-14988A>T
XR_945460.3:n.299-14988A>T
NM_002562.6:c.1147T>A MANE Select	NP_002553.3:p.Tyr383Asn
NR_033948.2:n.1465T>A
NR_033949.2:n.1381T>A
NR_033950.2:n.1342T>A
NR_033951.2:n.1326T>A
NR_033952.2:n.1253T>A
NR_033953.2:n.1157T>A
NR_033954.2:n.1145T>A
NR_033955.2:n.1105T>A
NR_033956.2:n.1032T>A