Canonical Allele Identifier: CA386959722

Gene: P2RX7

Linked Data

• MyVariant Identifiers: chr12:g.121615188C>A (hg19) ; chr12:g.121177385C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121177385C>A , CM000674.2:g.121177385C>A	GRCh38
NC_000012.11:g.121615188C>A , CM000674.1:g.121615188C>A	GRCh37
NC_000012.10:g.120099571C>A	NCBI36
NG_011471.2:g.49511C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328963.10:c.1127C>A MANE Select	ENSP00000330696.6:p.Pro376His
ENST00000261826.10:c.*580C>A	ENSP00000261826.6:n.*580C>A
ENST00000328963.9:c.1127C>A	ENSP00000330696.6:p.Pro376His
ENST00000535250.5:c.1211C>A	ENSP00000442572.2:n.1211C>A
ENST00000535600.2:c.944C>A	ENSP00000442470.1:n.944C>A
ENST00000537312.5:c.*898C>A	ENSP00000438586.1:n.*898C>A
ENST00000538011.5:c.1266C>A	ENSP00000439247.1:n.1266C>A
ENST00000539606.5:c.1350C>A	ENSP00000445325.1:n.1350C>A
ENST00000539695.5:n.1296C>A
ENST00000541022.5:c.917C>A	ENSP00000441230.1:n.917C>A
ENST00000541564.5:c.990C>A	ENSP00000443640.1:n.990C>A
ENST00000541716.5:c.1138C>A	ENSP00000437729.1:n.1138C>A
NM_002562.5:c.1127C>A	NP_002553.3:p.Pro376His
NR_033948.1:n.1493C>A
NR_033949.1:n.1409C>A
NR_033950.1:n.1370C>A
NR_033951.1:n.1354C>A
NR_033952.1:n.1281C>A
NR_033953.1:n.1194C>A
NR_033954.1:n.1173C>A
NR_033955.1:n.1133C>A
NR_033956.1:n.1060C>A
XM_011538418.1:c.860C>A	XP_011536720.1:p.Pro287His
XM_011538419.1:c.815C>A	XP_011536721.1:p.Pro272His
XM_011538420.1:c.260C>A	XP_011536722.1:p.Pro87His
XR_945459.1:n.190-14968G>T
XR_945460.1:n.299-14968G>T
XM_011538419.3:c.815C>A	XP_011536721.1:p.Pro272His
XM_011538420.3:c.260C>A	XP_011536722.1:p.Pro87His
XM_017019364.2:c.767C>A	XP_016874853.1:p.Pro256His
XM_017019365.2:c.767C>A	XP_016874854.1:p.Pro256His
XM_017019366.2:c.374C>A	XP_016874855.1:p.Pro125His
XM_017019367.2:c.374C>A	XP_016874856.1:p.Pro125His
XR_001749352.2:n.186+26113G>T
XR_001749353.2:n.304-14968G>T
XR_001749354.2:n.186+26113G>T
XR_945459.3:n.187-14968G>T
XR_945460.3:n.299-14968G>T
NM_002562.6:c.1127C>A MANE Select	NP_002553.3:p.Pro376His
NR_033948.2:n.1445C>A
NR_033949.2:n.1361C>A
NR_033950.2:n.1322C>A
NR_033951.2:n.1306C>A
NR_033952.2:n.1233C>A
NR_033953.2:n.1137C>A
NR_033954.2:n.1125C>A
NR_033955.2:n.1085C>A
NR_033956.2:n.1012C>A