Canonical Allele Identifier: CA482159145

Gene: P2RX7

Linked Data

• MyVariant Identifiers: chr12:g.121615162T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121177359T>C , CM000674.2:g.121177359T>C	GRCh38
NC_000012.11:g.121615162T>C , CM000674.1:g.121615162T>C	GRCh37
NC_000012.10:g.120099545T>C	NCBI36
NG_011471.2:g.49485T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328963.10:c.1101T>C MANE Select	ENSP00000330696.6:p.Ile367=
ENST00000261826.10:c.*554T>C	ENSP00000261826.6:n.*554T>C
ENST00000328963.9:c.1101T>C	ENSP00000330696.6:p.Ile367=
ENST00000535250.5:c.1185T>C	ENSP00000442572.2:n.1185T>C
ENST00000535600.2:c.918T>C	ENSP00000442470.1:n.918T>C
ENST00000537312.5:c.*872T>C	ENSP00000438586.1:n.*872T>C
ENST00000538011.5:c.1240T>C	ENSP00000439247.1:n.1240T>C
ENST00000539606.5:c.1324T>C	ENSP00000445325.1:n.1324T>C
ENST00000539695.5:n.1270T>C
ENST00000541022.5:c.891T>C	ENSP00000441230.1:n.891T>C
ENST00000541564.5:c.964T>C	ENSP00000443640.1:n.964T>C
ENST00000541716.5:c.1112T>C	ENSP00000437729.1:n.1112T>C
NM_002562.5:c.1101T>C	NP_002553.3:p.Ile367=
NR_033948.1:n.1467T>C
NR_033949.1:n.1383T>C
NR_033950.1:n.1344T>C
NR_033951.1:n.1328T>C
NR_033952.1:n.1255T>C
NR_033953.1:n.1168T>C
NR_033954.1:n.1147T>C
NR_033955.1:n.1107T>C
NR_033956.1:n.1034T>C
XM_011538418.1:c.834T>C	XP_011536720.1:p.Ile278=
XM_011538419.1:c.789T>C	XP_011536721.1:p.Ile263=
XM_011538420.1:c.234T>C	XP_011536722.1:p.Ile78=
XR_945459.1:n.190-14942A>G
XR_945460.1:n.299-14942A>G
XM_011538419.3:c.789T>C	XP_011536721.1:p.Ile263=
XM_011538420.3:c.234T>C	XP_011536722.1:p.Ile78=
XM_017019364.2:c.741T>C	XP_016874853.1:p.Ile247=
XM_017019365.2:c.741T>C	XP_016874854.1:p.Ile247=
XM_017019366.2:c.348T>C	XP_016874855.1:p.Ile116=
XM_017019367.2:c.348T>C	XP_016874856.1:p.Ile116=
XR_001749352.2:n.186+26139A>G
XR_001749353.2:n.304-14942A>G
XR_001749354.2:n.186+26139A>G
XR_945459.3:n.187-14942A>G
XR_945460.3:n.299-14942A>G
NM_002562.6:c.1101T>C MANE Select	NP_002553.3:p.Ile367=
NR_033948.2:n.1419T>C
NR_033949.2:n.1335T>C
NR_033950.2:n.1296T>C
NR_033951.2:n.1280T>C
NR_033952.2:n.1207T>C
NR_033953.2:n.1111T>C
NR_033954.2:n.1099T>C
NR_033955.2:n.1059T>C
NR_033956.2:n.986T>C