Canonical Allele Identifier: CA386959941

Gene: P2RX7

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328963.10:c.1151A>C MANE Select	ENSP00000330696.6:p.Tyr384Ser
ENST00000261826.10:c.*604A>C	ENSP00000261826.6:n.*604A>C
ENST00000328963.9:c.1151A>C	ENSP00000330696.6:p.Tyr384Ser
ENST00000535250.5:c.1235A>C	ENSP00000442572.2:n.1235A>C
ENST00000535600.2:c.968A>C	ENSP00000442470.1:n.968A>C
ENST00000537312.5:c.*922A>C	ENSP00000438586.1:n.*922A>C
ENST00000538011.5:c.1290A>C	ENSP00000439247.1:n.1290A>C
ENST00000539606.5:c.1374A>C	ENSP00000445325.1:n.1374A>C
ENST00000539695.5:n.1320A>C
ENST00000541022.5:c.941A>C	ENSP00000441230.1:n.941A>C
ENST00000541564.5:c.1014A>C	ENSP00000443640.1:n.1014A>C
ENST00000541716.5:c.1162A>C	ENSP00000437729.1:n.1162A>C
NM_002562.5:c.1151A>C	NP_002553.3:p.Tyr384Ser
NR_033948.1:n.1517A>C
NR_033949.1:n.1433A>C
NR_033950.1:n.1394A>C
NR_033951.1:n.1378A>C
NR_033952.1:n.1305A>C
NR_033953.1:n.1218A>C
NR_033954.1:n.1197A>C
NR_033955.1:n.1157A>C
NR_033956.1:n.1084A>C
XM_011538418.1:c.884A>C	XP_011536720.1:p.Tyr295Ser
XM_011538419.1:c.839A>C	XP_011536721.1:p.Tyr280Ser
XM_011538420.1:c.284A>C	XP_011536722.1:p.Tyr95Ser
XR_945459.1:n.190-14992T>G
XR_945460.1:n.299-14992T>G
XM_011538419.3:c.839A>C	XP_011536721.1:p.Tyr280Ser
XM_011538420.3:c.284A>C	XP_011536722.1:p.Tyr95Ser
XM_017019364.2:c.791A>C	XP_016874853.1:p.Tyr264Ser
XM_017019365.2:c.791A>C	XP_016874854.1:p.Tyr264Ser
XM_017019366.2:c.398A>C	XP_016874855.1:p.Tyr133Ser
XM_017019367.2:c.398A>C	XP_016874856.1:p.Tyr133Ser
XR_001749352.2:n.186+26089T>G
XR_001749353.2:n.304-14992T>G
XR_001749354.2:n.186+26089T>G
XR_945459.3:n.187-14992T>G
XR_945460.3:n.299-14992T>G
NM_002562.6:c.1151A>C MANE Select	NP_002553.3:p.Tyr384Ser
NR_033948.2:n.1469A>C
NR_033949.2:n.1385A>C
NR_033950.2:n.1346A>C
NR_033951.2:n.1330A>C
NR_033952.2:n.1257A>C
NR_033953.2:n.1161A>C
NR_033954.2:n.1149A>C
NR_033955.2:n.1109A>C
NR_033956.2:n.1036A>C