Canonical Allele Identifier: CA386959572

Gene: P2RX7

Linked Data

• MyVariant Identifiers: chr12:g.121615175A>C (hg19) ; chr12:g.121177372A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121177372A>C , CM000674.2:g.121177372A>C	GRCh38
NC_000012.11:g.121615175A>C , CM000674.1:g.121615175A>C	GRCh37
NC_000012.10:g.120099558A>C	NCBI36
NG_011471.2:g.49498A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328963.10:c.1114A>C MANE Select	ENSP00000330696.6:p.Lys372Gln
ENST00000261826.10:c.*567A>C	ENSP00000261826.6:n.*567A>C
ENST00000328963.9:c.1114A>C	ENSP00000330696.6:p.Lys372Gln
ENST00000535250.5:c.1198A>C	ENSP00000442572.2:n.1198A>C
ENST00000535600.2:c.931A>C	ENSP00000442470.1:n.931A>C
ENST00000537312.5:c.*885A>C	ENSP00000438586.1:n.*885A>C
ENST00000538011.5:c.1253A>C	ENSP00000439247.1:n.1253A>C
ENST00000539606.5:c.1337A>C	ENSP00000445325.1:n.1337A>C
ENST00000539695.5:n.1283A>C
ENST00000541022.5:c.904A>C	ENSP00000441230.1:n.904A>C
ENST00000541564.5:c.977A>C	ENSP00000443640.1:n.977A>C
ENST00000541716.5:c.1125A>C	ENSP00000437729.1:n.1125A>C
NM_002562.5:c.1114A>C	NP_002553.3:p.Lys372Gln
NR_033948.1:n.1480A>C
NR_033949.1:n.1396A>C
NR_033950.1:n.1357A>C
NR_033951.1:n.1341A>C
NR_033952.1:n.1268A>C
NR_033953.1:n.1181A>C
NR_033954.1:n.1160A>C
NR_033955.1:n.1120A>C
NR_033956.1:n.1047A>C
XM_011538418.1:c.847A>C	XP_011536720.1:p.Lys283Gln
XM_011538419.1:c.802A>C	XP_011536721.1:p.Lys268Gln
XM_011538420.1:c.247A>C	XP_011536722.1:p.Lys83Gln
XR_945459.1:n.190-14955T>G
XR_945460.1:n.299-14955T>G
XM_011538419.3:c.802A>C	XP_011536721.1:p.Lys268Gln
XM_011538420.3:c.247A>C	XP_011536722.1:p.Lys83Gln
XM_017019364.2:c.754A>C	XP_016874853.1:p.Lys252Gln
XM_017019365.2:c.754A>C	XP_016874854.1:p.Lys252Gln
XM_017019366.2:c.361A>C	XP_016874855.1:p.Lys121Gln
XM_017019367.2:c.361A>C	XP_016874856.1:p.Lys121Gln
XR_001749352.2:n.186+26126T>G
XR_001749353.2:n.304-14955T>G
XR_001749354.2:n.186+26126T>G
XR_945459.3:n.187-14955T>G
XR_945460.3:n.299-14955T>G
NM_002562.6:c.1114A>C MANE Select	NP_002553.3:p.Lys372Gln
NR_033948.2:n.1432A>C
NR_033949.2:n.1348A>C
NR_033950.2:n.1309A>C
NR_033951.2:n.1293A>C
NR_033952.2:n.1220A>C
NR_033953.2:n.1124A>C
NR_033954.2:n.1112A>C
NR_033955.2:n.1072A>C
NR_033956.2:n.999A>C