Canonical Allele Identifier: CA386959419

Gene: P2RX7

Linked Data

• MyVariant Identifiers: chr12:g.121615160A>C (hg19) ; chr12:g.121177357A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121177357A>C , CM000674.2:g.121177357A>C	GRCh38
NC_000012.11:g.121615160A>C , CM000674.1:g.121615160A>C	GRCh37
NC_000012.10:g.120099543A>C	NCBI36
NG_011471.2:g.49483A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328963.10:c.1099A>C MANE Select	ENSP00000330696.6:p.Ile367Leu
ENST00000261826.10:c.*552A>C	ENSP00000261826.6:n.*552A>C
ENST00000328963.9:c.1099A>C	ENSP00000330696.6:p.Ile367Leu
ENST00000535250.5:c.1183A>C	ENSP00000442572.2:n.1183A>C
ENST00000535600.2:c.916A>C	ENSP00000442470.1:n.916A>C
ENST00000537312.5:c.*870A>C	ENSP00000438586.1:n.*870A>C
ENST00000538011.5:c.1238A>C	ENSP00000439247.1:n.1238A>C
ENST00000539606.5:c.1322A>C	ENSP00000445325.1:n.1322A>C
ENST00000539695.5:n.1268A>C
ENST00000541022.5:c.889A>C	ENSP00000441230.1:n.889A>C
ENST00000541564.5:c.962A>C	ENSP00000443640.1:n.962A>C
ENST00000541716.5:c.1110A>C	ENSP00000437729.1:n.1110A>C
NM_002562.5:c.1099A>C	NP_002553.3:p.Ile367Leu
NR_033948.1:n.1465A>C
NR_033949.1:n.1381A>C
NR_033950.1:n.1342A>C
NR_033951.1:n.1326A>C
NR_033952.1:n.1253A>C
NR_033953.1:n.1166A>C
NR_033954.1:n.1145A>C
NR_033955.1:n.1105A>C
NR_033956.1:n.1032A>C
XM_011538418.1:c.832A>C	XP_011536720.1:p.Ile278Leu
XM_011538419.1:c.787A>C	XP_011536721.1:p.Ile263Leu
XM_011538420.1:c.232A>C	XP_011536722.1:p.Ile78Leu
XR_945459.1:n.190-14940T>G
XR_945460.1:n.299-14940T>G
XM_011538419.3:c.787A>C	XP_011536721.1:p.Ile263Leu
XM_011538420.3:c.232A>C	XP_011536722.1:p.Ile78Leu
XM_017019364.2:c.739A>C	XP_016874853.1:p.Ile247Leu
XM_017019365.2:c.739A>C	XP_016874854.1:p.Ile247Leu
XM_017019366.2:c.346A>C	XP_016874855.1:p.Ile116Leu
XM_017019367.2:c.346A>C	XP_016874856.1:p.Ile116Leu
XR_001749352.2:n.186+26141T>G
XR_001749353.2:n.304-14940T>G
XR_001749354.2:n.186+26141T>G
XR_945459.3:n.187-14940T>G
XR_945460.3:n.299-14940T>G
NM_002562.6:c.1099A>C MANE Select	NP_002553.3:p.Ile367Leu
NR_033948.2:n.1417A>C
NR_033949.2:n.1333A>C
NR_033950.2:n.1294A>C
NR_033951.2:n.1278A>C
NR_033952.2:n.1205A>C
NR_033953.2:n.1109A>C
NR_033954.2:n.1097A>C
NR_033955.2:n.1057A>C
NR_033956.2:n.984A>C