Canonical Allele Identifier: CA386959366

Gene: P2RX7

Linked Data

• MyVariant Identifiers: chr12:g.121615155C>T (hg19) ; chr12:g.121177352C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121177352C>T , CM000674.2:g.121177352C>T	GRCh38
NC_000012.11:g.121615155C>T , CM000674.1:g.121615155C>T	GRCh37
NC_000012.10:g.120099538C>T	NCBI36
NG_011471.2:g.49478C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328963.10:c.1094C>T MANE Select	ENSP00000330696.6:p.Ser365Phe
ENST00000261826.10:c.*547C>T	ENSP00000261826.6:n.*547C>T
ENST00000328963.9:c.1094C>T	ENSP00000330696.6:p.Ser365Phe
ENST00000535250.5:c.1178C>T	ENSP00000442572.2:n.1178C>T
ENST00000535600.2:c.911C>T	ENSP00000442470.1:n.911C>T
ENST00000537312.5:c.*865C>T	ENSP00000438586.1:n.*865C>T
ENST00000538011.5:c.1233C>T	ENSP00000439247.1:n.1233C>T
ENST00000539606.5:c.1317C>T	ENSP00000445325.1:n.1317C>T
ENST00000539695.5:n.1263C>T
ENST00000541022.5:c.884C>T	ENSP00000441230.1:n.884C>T
ENST00000541564.5:c.957C>T	ENSP00000443640.1:n.957C>T
ENST00000541716.5:c.1105C>T	ENSP00000437729.1:n.1105C>T
NM_002562.5:c.1094C>T	NP_002553.3:p.Ser365Phe
NR_033948.1:n.1460C>T
NR_033949.1:n.1376C>T
NR_033950.1:n.1337C>T
NR_033951.1:n.1321C>T
NR_033952.1:n.1248C>T
NR_033953.1:n.1161C>T
NR_033954.1:n.1140C>T
NR_033955.1:n.1100C>T
NR_033956.1:n.1027C>T
XM_011538418.1:c.827C>T	XP_011536720.1:p.Ser276Phe
XM_011538419.1:c.782C>T	XP_011536721.1:p.Ser261Phe
XM_011538420.1:c.227C>T	XP_011536722.1:p.Ser76Phe
XR_945459.1:n.190-14935G>A
XR_945460.1:n.299-14935G>A
XM_011538419.3:c.782C>T	XP_011536721.1:p.Ser261Phe
XM_011538420.3:c.227C>T	XP_011536722.1:p.Ser76Phe
XM_017019364.2:c.734C>T	XP_016874853.1:p.Ser245Phe
XM_017019365.2:c.734C>T	XP_016874854.1:p.Ser245Phe
XM_017019366.2:c.341C>T	XP_016874855.1:p.Ser114Phe
XM_017019367.2:c.341C>T	XP_016874856.1:p.Ser114Phe
XR_001749352.2:n.186+26146G>A
XR_001749353.2:n.304-14935G>A
XR_001749354.2:n.186+26146G>A
XR_945459.3:n.187-14935G>A
XR_945460.3:n.299-14935G>A
NM_002562.6:c.1094C>T MANE Select	NP_002553.3:p.Ser365Phe
NR_033948.2:n.1412C>T
NR_033949.2:n.1328C>T
NR_033950.2:n.1289C>T
NR_033951.2:n.1273C>T
NR_033952.2:n.1200C>T
NR_033953.2:n.1104C>T
NR_033954.2:n.1092C>T
NR_033955.2:n.1052C>T
NR_033956.2:n.979C>T