Canonical Allele Identifier: CA386959850

Gene: P2RX7

Linked Data

• MyVariant Identifiers: chr12:g.121615201C>A (hg19) ; chr12:g.121177398C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121177398C>A , CM000674.2:g.121177398C>A	GRCh38
NC_000012.11:g.121615201C>A , CM000674.1:g.121615201C>A	GRCh37
NC_000012.10:g.120099584C>A	NCBI36
NG_011471.2:g.49524C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328963.10:c.1140C>A MANE Select	ENSP00000330696.6:p.Asn380Lys
ENST00000261826.10:c.*593C>A	ENSP00000261826.6:n.*593C>A
ENST00000328963.9:c.1140C>A	ENSP00000330696.6:p.Asn380Lys
ENST00000535250.5:c.1224C>A	ENSP00000442572.2:n.1224C>A
ENST00000535600.2:c.957C>A	ENSP00000442470.1:n.957C>A
ENST00000537312.5:c.*911C>A	ENSP00000438586.1:n.*911C>A
ENST00000538011.5:c.1279C>A	ENSP00000439247.1:n.1279C>A
ENST00000539606.5:c.1363C>A	ENSP00000445325.1:n.1363C>A
ENST00000539695.5:n.1309C>A
ENST00000541022.5:c.930C>A	ENSP00000441230.1:n.930C>A
ENST00000541564.5:c.1003C>A	ENSP00000443640.1:n.1003C>A
ENST00000541716.5:c.1151C>A	ENSP00000437729.1:n.1151C>A
NM_002562.5:c.1140C>A	NP_002553.3:p.Asn380Lys
NR_033948.1:n.1506C>A
NR_033949.1:n.1422C>A
NR_033950.1:n.1383C>A
NR_033951.1:n.1367C>A
NR_033952.1:n.1294C>A
NR_033953.1:n.1207C>A
NR_033954.1:n.1186C>A
NR_033955.1:n.1146C>A
NR_033956.1:n.1073C>A
XM_011538418.1:c.873C>A	XP_011536720.1:p.Asn291Lys
XM_011538419.1:c.828C>A	XP_011536721.1:p.Asn276Lys
XM_011538420.1:c.273C>A	XP_011536722.1:p.Asn91Lys
XR_945459.1:n.190-14981G>T
XR_945460.1:n.299-14981G>T
XM_011538419.3:c.828C>A	XP_011536721.1:p.Asn276Lys
XM_011538420.3:c.273C>A	XP_011536722.1:p.Asn91Lys
XM_017019364.2:c.780C>A	XP_016874853.1:p.Asn260Lys
XM_017019365.2:c.780C>A	XP_016874854.1:p.Asn260Lys
XM_017019366.2:c.387C>A	XP_016874855.1:p.Asn129Lys
XM_017019367.2:c.387C>A	XP_016874856.1:p.Asn129Lys
XR_001749352.2:n.186+26100G>T
XR_001749353.2:n.304-14981G>T
XR_001749354.2:n.186+26100G>T
XR_945459.3:n.187-14981G>T
XR_945460.3:n.299-14981G>T
NM_002562.6:c.1140C>A MANE Select	NP_002553.3:p.Asn380Lys
NR_033948.2:n.1458C>A
NR_033949.2:n.1374C>A
NR_033950.2:n.1335C>A
NR_033951.2:n.1319C>A
NR_033952.2:n.1246C>A
NR_033953.2:n.1150C>A
NR_033954.2:n.1138C>A
NR_033955.2:n.1098C>A
NR_033956.2:n.1025C>A