Canonical Allele Identifier: CA386959349

Gene: P2RX7

Linked Data

• MyVariant Identifiers: chr12:g.121615154T>G (hg19) ; chr12:g.121177351T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121177351T>G , CM000674.2:g.121177351T>G	GRCh38
NC_000012.11:g.121615154T>G , CM000674.1:g.121615154T>G	GRCh37
NC_000012.10:g.120099537T>G	NCBI36
NG_011471.2:g.49477T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328963.10:c.1093T>G MANE Select	ENSP00000330696.6:p.Ser365Ala
ENST00000261826.10:c.*546T>G	ENSP00000261826.6:n.*546T>G
ENST00000328963.9:c.1093T>G	ENSP00000330696.6:p.Ser365Ala
ENST00000535250.5:c.1177T>G	ENSP00000442572.2:n.1177T>G
ENST00000535600.2:c.910T>G	ENSP00000442470.1:n.910T>G
ENST00000537312.5:c.*864T>G	ENSP00000438586.1:n.*864T>G
ENST00000538011.5:c.1232T>G	ENSP00000439247.1:n.1232T>G
ENST00000539606.5:c.1316T>G	ENSP00000445325.1:n.1316T>G
ENST00000539695.5:n.1262T>G
ENST00000541022.5:c.883T>G	ENSP00000441230.1:n.883T>G
ENST00000541564.5:c.956T>G	ENSP00000443640.1:n.956T>G
ENST00000541716.5:c.1104T>G	ENSP00000437729.1:n.1104T>G
NM_002562.5:c.1093T>G	NP_002553.3:p.Ser365Ala
NR_033948.1:n.1459T>G
NR_033949.1:n.1375T>G
NR_033950.1:n.1336T>G
NR_033951.1:n.1320T>G
NR_033952.1:n.1247T>G
NR_033953.1:n.1160T>G
NR_033954.1:n.1139T>G
NR_033955.1:n.1099T>G
NR_033956.1:n.1026T>G
XM_011538418.1:c.826T>G	XP_011536720.1:p.Ser276Ala
XM_011538419.1:c.781T>G	XP_011536721.1:p.Ser261Ala
XM_011538420.1:c.226T>G	XP_011536722.1:p.Ser76Ala
XR_945459.1:n.190-14934A>C
XR_945460.1:n.299-14934A>C
XM_011538419.3:c.781T>G	XP_011536721.1:p.Ser261Ala
XM_011538420.3:c.226T>G	XP_011536722.1:p.Ser76Ala
XM_017019364.2:c.733T>G	XP_016874853.1:p.Ser245Ala
XM_017019365.2:c.733T>G	XP_016874854.1:p.Ser245Ala
XM_017019366.2:c.340T>G	XP_016874855.1:p.Ser114Ala
XM_017019367.2:c.340T>G	XP_016874856.1:p.Ser114Ala
XR_001749352.2:n.186+26147A>C
XR_001749353.2:n.304-14934A>C
XR_001749354.2:n.186+26147A>C
XR_945459.3:n.187-14934A>C
XR_945460.3:n.299-14934A>C
NM_002562.6:c.1093T>G MANE Select	NP_002553.3:p.Ser365Ala
NR_033948.2:n.1411T>G
NR_033949.2:n.1327T>G
NR_033950.2:n.1288T>G
NR_033951.2:n.1272T>G
NR_033952.2:n.1199T>G
NR_033953.2:n.1103T>G
NR_033954.2:n.1091T>G
NR_033955.2:n.1051T>G
NR_033956.2:n.978T>G