Canonical Allele Identifier: CA386942247

Gene: P2RX7

Linked Data

• gnomAD v4: 12-121133005-A-C
• MyVariant Identifiers: chr12:g.121570808A>C (hg19) ; chr12:g.121133005A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121133005A>C , CM000674.2:g.121133005A>C	GRCh38
NC_000012.11:g.121570808A>C , CM000674.1:g.121570808A>C	GRCh37
NC_000012.10:g.120055191A>C	NCBI36
NG_011471.2:g.5131A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328963.10:c.35A>C MANE Select	ENSP00000330696.6:p.Gln12Pro
ENST00000261826.10:c.35A>C	ENSP00000261826.6:p.Gln12Pro
ENST00000328963.9:c.35A>C	ENSP00000330696.6:p.Gln12Pro
ENST00000535250.5:c.35A>C	ENSP00000442572.2:p.Gln12Pro
ENST00000535600.2:c.35A>C	ENSP00000442470.1:p.Gln12Pro
ENST00000535928.5:c.35A>C	ENSP00000439961.1:p.Gln12Pro
ENST00000537312.5:c.35A>C	ENSP00000438586.1:p.Gln12Pro
ENST00000538011.5:c.35A>C	ENSP00000439247.1:p.Gln12Pro
ENST00000539606.5:c.35A>C	ENSP00000445325.1:p.Gln12Pro
ENST00000539695.5:n.104A>C
ENST00000541022.5:c.35A>C	ENSP00000441230.1:p.Gln12Pro
ENST00000541564.5:c.35A>C	ENSP00000443640.1:p.Gln12Pro
ENST00000541716.5:c.35A>C	ENSP00000437729.1:p.Gln12Pro
ENST00000545434.5:c.35A>C	ENSP00000445564.1:p.Gln12Pro
NM_002562.5:c.35A>C	NP_002553.3:p.Gln12Pro
NR_033948.1:n.178A>C
NR_033949.1:n.178A>C
NR_033950.1:n.178A>C
NR_033951.1:n.178A>C
NR_033952.1:n.178A>C
NR_033953.1:n.187A>C
NR_033954.1:n.178A>C
NR_033955.1:n.178A>C
NR_033956.1:n.178A>C
XM_011538418.1:c.35A>C	XP_011536720.1:p.Gln12Pro
XM_011538419.1:c.-109A>C	XP_011536721.1:n.-109A>C
XM_011538419.3:c.-109A>C	XP_011536721.1:n.-109A>C
XM_017019364.2:c.-479A>C	XP_016874853.1:n.-479A>C
XM_017019365.2:c.-310A>C	XP_016874854.1:n.-310A>C
XM_017019366.2:c.-646A>C	XP_016874855.1:n.-646A>C
XM_017019367.2:c.-477A>C	XP_016874856.1:n.-477A>C
XR_001749352.2:n.187-6164T>G
XR_001749354.2:n.187-6164T>G
NM_002562.6:c.35A>C MANE Select	NP_002553.3:p.Gln12Pro
NR_033948.2:n.130A>C
NR_033949.2:n.130A>C
NR_033950.2:n.130A>C
NR_033951.2:n.130A>C
NR_033952.2:n.130A>C
NR_033953.2:n.130A>C
NR_033954.2:n.130A>C
NR_033955.2:n.130A>C
NR_033956.2:n.130A>C