Canonical Allele Identifier: CA386942575

Gene: P2RX7

Linked Data

• MyVariant Identifiers: chr12:g.121570866G>C (hg19) ; chr12:g.121133063G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121133063G>C , CM000674.2:g.121133063G>C	GRCh38
NC_000012.11:g.121570866G>C , CM000674.1:g.121570866G>C	GRCh37
NC_000012.10:g.120055249G>C	NCBI36
NG_011471.2:g.5189G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328963.10:c.93G>C MANE Select	ENSP00000330696.6:p.Trp31Cys
ENST00000261826.10:c.93G>C	ENSP00000261826.6:p.Trp31Cys
ENST00000328963.9:c.93G>C	ENSP00000330696.6:p.Trp31Cys
ENST00000535250.5:c.93G>C	ENSP00000442572.2:p.Trp31Cys
ENST00000535600.2:c.93G>C	ENSP00000442470.1:p.Trp31Cys
ENST00000535928.5:c.93G>C	ENSP00000439961.1:p.Trp31Cys
ENST00000537312.5:c.93G>C	ENSP00000438586.1:p.Trp31Cys
ENST00000538011.5:c.93G>C	ENSP00000439247.1:p.Trp31Cys
ENST00000539606.5:c.93G>C	ENSP00000445325.1:p.Trp31Cys
ENST00000539695.5:n.162G>C
ENST00000541022.5:c.93G>C	ENSP00000441230.1:p.Trp31Cys
ENST00000541564.5:c.93G>C	ENSP00000443640.1:p.Trp31Cys
ENST00000541716.5:c.93G>C	ENSP00000437729.1:p.Trp31Cys
ENST00000545434.5:c.93G>C	ENSP00000445564.1:p.Trp31Cys
NM_002562.5:c.93G>C	NP_002553.3:p.Trp31Cys
NR_033948.1:n.236G>C
NR_033949.1:n.236G>C
NR_033950.1:n.236G>C
NR_033951.1:n.236G>C
NR_033952.1:n.236G>C
NR_033953.1:n.245G>C
NR_033954.1:n.236G>C
NR_033955.1:n.236G>C
NR_033956.1:n.236G>C
XM_011538418.1:c.93G>C	XP_011536720.1:p.Trp31Cys
XM_011538419.1:c.-51G>C	XP_011536721.1:n.-51G>C
XM_011538420.1:c.-469G>C	XP_011536722.1:n.-469G>C
XM_011538419.3:c.-51G>C	XP_011536721.1:n.-51G>C
XM_011538420.3:c.-469G>C	XP_011536722.1:n.-469G>C
XM_017019364.2:c.-421G>C	XP_016874853.1:n.-421G>C
XM_017019365.2:c.-252G>C	XP_016874854.1:n.-252G>C
XM_017019366.2:c.-588G>C	XP_016874855.1:n.-588G>C
XM_017019367.2:c.-419G>C	XP_016874856.1:n.-419G>C
XR_001749352.2:n.187-6222C>G
XR_001749354.2:n.187-6222C>G
NM_002562.6:c.93G>C MANE Select	NP_002553.3:p.Trp31Cys
NR_033948.2:n.188G>C
NR_033949.2:n.188G>C
NR_033950.2:n.188G>C
NR_033951.2:n.188G>C
NR_033952.2:n.188G>C
NR_033953.2:n.188G>C
NR_033954.2:n.188G>C
NR_033955.2:n.188G>C
NR_033956.2:n.188G>C