Canonical Allele Identifier: CA386959729

Gene: P2RX7

Linked Data

• gnomAD v4: 12-121177385-C-T
• MyVariant Identifiers: chr12:g.121615188C>T (hg19) ; chr12:g.121177385C>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328963.10:c.1127C>T MANE Select	ENSP00000330696.6:p.Pro376Leu
ENST00000261826.10:c.*580C>T	ENSP00000261826.6:n.*580C>T
ENST00000328963.9:c.1127C>T	ENSP00000330696.6:p.Pro376Leu
ENST00000535250.5:c.1211C>T	ENSP00000442572.2:n.1211C>T
ENST00000535600.2:c.944C>T	ENSP00000442470.1:n.944C>T
ENST00000537312.5:c.*898C>T	ENSP00000438586.1:n.*898C>T
ENST00000538011.5:c.1266C>T	ENSP00000439247.1:n.1266C>T
ENST00000539606.5:c.1350C>T	ENSP00000445325.1:n.1350C>T
ENST00000539695.5:n.1296C>T
ENST00000541022.5:c.917C>T	ENSP00000441230.1:n.917C>T
ENST00000541564.5:c.990C>T	ENSP00000443640.1:n.990C>T
ENST00000541716.5:c.1138C>T	ENSP00000437729.1:n.1138C>T
NM_002562.5:c.1127C>T	NP_002553.3:p.Pro376Leu
NR_033948.1:n.1493C>T
NR_033949.1:n.1409C>T
NR_033950.1:n.1370C>T
NR_033951.1:n.1354C>T
NR_033952.1:n.1281C>T
NR_033953.1:n.1194C>T
NR_033954.1:n.1173C>T
NR_033955.1:n.1133C>T
NR_033956.1:n.1060C>T
XM_011538418.1:c.860C>T	XP_011536720.1:p.Pro287Leu
XM_011538419.1:c.815C>T	XP_011536721.1:p.Pro272Leu
XM_011538420.1:c.260C>T	XP_011536722.1:p.Pro87Leu
XR_945459.1:n.190-14968G>A
XR_945460.1:n.299-14968G>A
XM_011538419.3:c.815C>T	XP_011536721.1:p.Pro272Leu
XM_011538420.3:c.260C>T	XP_011536722.1:p.Pro87Leu
XM_017019364.2:c.767C>T	XP_016874853.1:p.Pro256Leu
XM_017019365.2:c.767C>T	XP_016874854.1:p.Pro256Leu
XM_017019366.2:c.374C>T	XP_016874855.1:p.Pro125Leu
XM_017019367.2:c.374C>T	XP_016874856.1:p.Pro125Leu
XR_001749352.2:n.186+26113G>A
XR_001749353.2:n.304-14968G>A
XR_001749354.2:n.186+26113G>A
XR_945459.3:n.187-14968G>A
XR_945460.3:n.299-14968G>A
NM_002562.6:c.1127C>T MANE Select	NP_002553.3:p.Pro376Leu
NR_033948.2:n.1445C>T
NR_033949.2:n.1361C>T
NR_033950.2:n.1322C>T
NR_033951.2:n.1306C>T
NR_033952.2:n.1233C>T
NR_033953.2:n.1137C>T
NR_033954.2:n.1125C>T
NR_033955.2:n.1085C>T
NR_033956.2:n.1012C>T