Canonical Allele Identifier: CA386959542

Gene: P2RX7

Linked Data

• MyVariant Identifiers: chr12:g.121615171G>C (hg19) ; chr12:g.121177368G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121177368G>C , CM000674.2:g.121177368G>C	GRCh38
NC_000012.11:g.121615171G>C , CM000674.1:g.121615171G>C	GRCh37
NC_000012.10:g.120099554G>C	NCBI36
NG_011471.2:g.49494G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328963.10:c.1110G>C MANE Select	ENSP00000330696.6:p.Trp370Cys
ENST00000261826.10:c.*563G>C	ENSP00000261826.6:n.*563G>C
ENST00000328963.9:c.1110G>C	ENSP00000330696.6:p.Trp370Cys
ENST00000535250.5:c.1194G>C	ENSP00000442572.2:n.1194G>C
ENST00000535600.2:c.927G>C	ENSP00000442470.1:n.927G>C
ENST00000537312.5:c.*881G>C	ENSP00000438586.1:n.*881G>C
ENST00000538011.5:c.1249G>C	ENSP00000439247.1:n.1249G>C
ENST00000539606.5:c.1333G>C	ENSP00000445325.1:n.1333G>C
ENST00000539695.5:n.1279G>C
ENST00000541022.5:c.900G>C	ENSP00000441230.1:n.900G>C
ENST00000541564.5:c.973G>C	ENSP00000443640.1:n.973G>C
ENST00000541716.5:c.1121G>C	ENSP00000437729.1:n.1121G>C
NM_002562.5:c.1110G>C	NP_002553.3:p.Trp370Cys
NR_033948.1:n.1476G>C
NR_033949.1:n.1392G>C
NR_033950.1:n.1353G>C
NR_033951.1:n.1337G>C
NR_033952.1:n.1264G>C
NR_033953.1:n.1177G>C
NR_033954.1:n.1156G>C
NR_033955.1:n.1116G>C
NR_033956.1:n.1043G>C
XM_011538418.1:c.843G>C	XP_011536720.1:p.Trp281Cys
XM_011538419.1:c.798G>C	XP_011536721.1:p.Trp266Cys
XM_011538420.1:c.243G>C	XP_011536722.1:p.Trp81Cys
XR_945459.1:n.190-14951C>G
XR_945460.1:n.299-14951C>G
XM_011538419.3:c.798G>C	XP_011536721.1:p.Trp266Cys
XM_011538420.3:c.243G>C	XP_011536722.1:p.Trp81Cys
XM_017019364.2:c.750G>C	XP_016874853.1:p.Trp250Cys
XM_017019365.2:c.750G>C	XP_016874854.1:p.Trp250Cys
XM_017019366.2:c.357G>C	XP_016874855.1:p.Trp119Cys
XM_017019367.2:c.357G>C	XP_016874856.1:p.Trp119Cys
XR_001749352.2:n.186+26130C>G
XR_001749353.2:n.304-14951C>G
XR_001749354.2:n.186+26130C>G
XR_945459.3:n.187-14951C>G
XR_945460.3:n.299-14951C>G
NM_002562.6:c.1110G>C MANE Select	NP_002553.3:p.Trp370Cys
NR_033948.2:n.1428G>C
NR_033949.2:n.1344G>C
NR_033950.2:n.1305G>C
NR_033951.2:n.1289G>C
NR_033952.2:n.1216G>C
NR_033953.2:n.1120G>C
NR_033954.2:n.1108G>C
NR_033955.2:n.1068G>C
NR_033956.2:n.995G>C