Canonical Allele Identifier: CA386959816

Gene: P2RX7

Linked Data

• MyVariant Identifiers: chr12:g.121615196G>C (hg19) ; chr12:g.121177393G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121177393G>C , CM000674.2:g.121177393G>C	GRCh38
NC_000012.11:g.121615196G>C , CM000674.1:g.121615196G>C	GRCh37
NC_000012.10:g.120099579G>C	NCBI36
NG_011471.2:g.49519G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328963.10:c.1135G>C MANE Select	ENSP00000330696.6:p.Val379Leu
ENST00000261826.10:c.*588G>C	ENSP00000261826.6:n.*588G>C
ENST00000328963.9:c.1135G>C	ENSP00000330696.6:p.Val379Leu
ENST00000535250.5:c.1219G>C	ENSP00000442572.2:n.1219G>C
ENST00000535600.2:c.952G>C	ENSP00000442470.1:n.952G>C
ENST00000537312.5:c.*906G>C	ENSP00000438586.1:n.*906G>C
ENST00000538011.5:c.1274G>C	ENSP00000439247.1:n.1274G>C
ENST00000539606.5:c.1358G>C	ENSP00000445325.1:n.1358G>C
ENST00000539695.5:n.1304G>C
ENST00000541022.5:c.925G>C	ENSP00000441230.1:n.925G>C
ENST00000541564.5:c.998G>C	ENSP00000443640.1:n.998G>C
ENST00000541716.5:c.1146G>C	ENSP00000437729.1:n.1146G>C
NM_002562.5:c.1135G>C	NP_002553.3:p.Val379Leu
NR_033948.1:n.1501G>C
NR_033949.1:n.1417G>C
NR_033950.1:n.1378G>C
NR_033951.1:n.1362G>C
NR_033952.1:n.1289G>C
NR_033953.1:n.1202G>C
NR_033954.1:n.1181G>C
NR_033955.1:n.1141G>C
NR_033956.1:n.1068G>C
XM_011538418.1:c.868G>C	XP_011536720.1:p.Val290Leu
XM_011538419.1:c.823G>C	XP_011536721.1:p.Val275Leu
XM_011538420.1:c.268G>C	XP_011536722.1:p.Val90Leu
XR_945459.1:n.190-14976C>G
XR_945460.1:n.299-14976C>G
XM_011538419.3:c.823G>C	XP_011536721.1:p.Val275Leu
XM_011538420.3:c.268G>C	XP_011536722.1:p.Val90Leu
XM_017019364.2:c.775G>C	XP_016874853.1:p.Val259Leu
XM_017019365.2:c.775G>C	XP_016874854.1:p.Val259Leu
XM_017019366.2:c.382G>C	XP_016874855.1:p.Val128Leu
XM_017019367.2:c.382G>C	XP_016874856.1:p.Val128Leu
XR_001749352.2:n.186+26105C>G
XR_001749353.2:n.304-14976C>G
XR_001749354.2:n.186+26105C>G
XR_945459.3:n.187-14976C>G
XR_945460.3:n.299-14976C>G
NM_002562.6:c.1135G>C MANE Select	NP_002553.3:p.Val379Leu
NR_033948.2:n.1453G>C
NR_033949.2:n.1369G>C
NR_033950.2:n.1330G>C
NR_033951.2:n.1314G>C
NR_033952.2:n.1241G>C
NR_033953.2:n.1145G>C
NR_033954.2:n.1133G>C
NR_033955.2:n.1093G>C
NR_033956.2:n.1020G>C