Canonical Allele Identifier: CA386959833

Gene: P2RX7

Linked Data

• MyVariant Identifiers: chr12:g.121615197T>C (hg19) ; chr12:g.121177394T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121177394T>C , CM000674.2:g.121177394T>C	GRCh38
NC_000012.11:g.121615197T>C , CM000674.1:g.121615197T>C	GRCh37
NC_000012.10:g.120099580T>C	NCBI36
NG_011471.2:g.49520T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328963.10:c.1136T>C MANE Select	ENSP00000330696.6:p.Val379Ala
ENST00000261826.10:c.*589T>C	ENSP00000261826.6:n.*589T>C
ENST00000328963.9:c.1136T>C	ENSP00000330696.6:p.Val379Ala
ENST00000535250.5:c.1220T>C	ENSP00000442572.2:n.1220T>C
ENST00000535600.2:c.953T>C	ENSP00000442470.1:n.953T>C
ENST00000537312.5:c.*907T>C	ENSP00000438586.1:n.*907T>C
ENST00000538011.5:c.1275T>C	ENSP00000439247.1:n.1275T>C
ENST00000539606.5:c.1359T>C	ENSP00000445325.1:n.1359T>C
ENST00000539695.5:n.1305T>C
ENST00000541022.5:c.926T>C	ENSP00000441230.1:n.926T>C
ENST00000541564.5:c.999T>C	ENSP00000443640.1:n.999T>C
ENST00000541716.5:c.1147T>C	ENSP00000437729.1:n.1147T>C
NM_002562.5:c.1136T>C	NP_002553.3:p.Val379Ala
NR_033948.1:n.1502T>C
NR_033949.1:n.1418T>C
NR_033950.1:n.1379T>C
NR_033951.1:n.1363T>C
NR_033952.1:n.1290T>C
NR_033953.1:n.1203T>C
NR_033954.1:n.1182T>C
NR_033955.1:n.1142T>C
NR_033956.1:n.1069T>C
XM_011538418.1:c.869T>C	XP_011536720.1:p.Val290Ala
XM_011538419.1:c.824T>C	XP_011536721.1:p.Val275Ala
XM_011538420.1:c.269T>C	XP_011536722.1:p.Val90Ala
XR_945459.1:n.190-14977A>G
XR_945460.1:n.299-14977A>G
XM_011538419.3:c.824T>C	XP_011536721.1:p.Val275Ala
XM_011538420.3:c.269T>C	XP_011536722.1:p.Val90Ala
XM_017019364.2:c.776T>C	XP_016874853.1:p.Val259Ala
XM_017019365.2:c.776T>C	XP_016874854.1:p.Val259Ala
XM_017019366.2:c.383T>C	XP_016874855.1:p.Val128Ala
XM_017019367.2:c.383T>C	XP_016874856.1:p.Val128Ala
XR_001749352.2:n.186+26104A>G
XR_001749353.2:n.304-14977A>G
XR_001749354.2:n.186+26104A>G
XR_945459.3:n.187-14977A>G
XR_945460.3:n.299-14977A>G
NM_002562.6:c.1136T>C MANE Select	NP_002553.3:p.Val379Ala
NR_033948.2:n.1454T>C
NR_033949.2:n.1370T>C
NR_033950.2:n.1331T>C
NR_033951.2:n.1315T>C
NR_033952.2:n.1242T>C
NR_033953.2:n.1146T>C
NR_033954.2:n.1134T>C
NR_033955.2:n.1094T>C
NR_033956.2:n.1021T>C