Canonical Allele Identifier: CA386959781

Gene: P2RX7

Linked Data

• MyVariant Identifiers: chr12:g.121615193G>T (hg19) ; chr12:g.121177390G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121177390G>T , CM000674.2:g.121177390G>T	GRCh38
NC_000012.11:g.121615193G>T , CM000674.1:g.121615193G>T	GRCh37
NC_000012.10:g.120099576G>T	NCBI36
NG_011471.2:g.49516G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328963.10:c.1132G>T MANE Select	ENSP00000330696.6:p.Val378Leu
ENST00000261826.10:c.*585G>T	ENSP00000261826.6:n.*585G>T
ENST00000328963.9:c.1132G>T	ENSP00000330696.6:p.Val378Leu
ENST00000535250.5:c.1216G>T	ENSP00000442572.2:n.1216G>T
ENST00000535600.2:c.949G>T	ENSP00000442470.1:n.949G>T
ENST00000537312.5:c.*903G>T	ENSP00000438586.1:n.*903G>T
ENST00000538011.5:c.1271G>T	ENSP00000439247.1:n.1271G>T
ENST00000539606.5:c.1355G>T	ENSP00000445325.1:n.1355G>T
ENST00000539695.5:n.1301G>T
ENST00000541022.5:c.922G>T	ENSP00000441230.1:n.922G>T
ENST00000541564.5:c.995G>T	ENSP00000443640.1:n.995G>T
ENST00000541716.5:c.1143G>T	ENSP00000437729.1:n.1143G>T
NM_002562.5:c.1132G>T	NP_002553.3:p.Val378Leu
NR_033948.1:n.1498G>T
NR_033949.1:n.1414G>T
NR_033950.1:n.1375G>T
NR_033951.1:n.1359G>T
NR_033952.1:n.1286G>T
NR_033953.1:n.1199G>T
NR_033954.1:n.1178G>T
NR_033955.1:n.1138G>T
NR_033956.1:n.1065G>T
XM_011538418.1:c.865G>T	XP_011536720.1:p.Val289Leu
XM_011538419.1:c.820G>T	XP_011536721.1:p.Val274Leu
XM_011538420.1:c.265G>T	XP_011536722.1:p.Val89Leu
XR_945459.1:n.190-14973C>A
XR_945460.1:n.299-14973C>A
XM_011538419.3:c.820G>T	XP_011536721.1:p.Val274Leu
XM_011538420.3:c.265G>T	XP_011536722.1:p.Val89Leu
XM_017019364.2:c.772G>T	XP_016874853.1:p.Val258Leu
XM_017019365.2:c.772G>T	XP_016874854.1:p.Val258Leu
XM_017019366.2:c.379G>T	XP_016874855.1:p.Val127Leu
XM_017019367.2:c.379G>T	XP_016874856.1:p.Val127Leu
XR_001749352.2:n.186+26108C>A
XR_001749353.2:n.304-14973C>A
XR_001749354.2:n.186+26108C>A
XR_945459.3:n.187-14973C>A
XR_945460.3:n.299-14973C>A
NM_002562.6:c.1132G>T MANE Select	NP_002553.3:p.Val378Leu
NR_033948.2:n.1450G>T
NR_033949.2:n.1366G>T
NR_033950.2:n.1327G>T
NR_033951.2:n.1311G>T
NR_033952.2:n.1238G>T
NR_033953.2:n.1142G>T
NR_033954.2:n.1130G>T
NR_033955.2:n.1090G>T
NR_033956.2:n.1017G>T