Canonical Allele Identifier: CA386959178

Gene: P2RX7

Linked Data

• MyVariant Identifiers: chr12:g.121615137C>T (hg19) ; chr12:g.121177334C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121177334C>T , CM000674.2:g.121177334C>T	GRCh38
NC_000012.11:g.121615137C>T , CM000674.1:g.121615137C>T	GRCh37
NC_000012.10:g.120099520C>T	NCBI36
NG_011471.2:g.49460C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328963.10:c.1076C>T MANE Select	ENSP00000330696.6:p.Ser359Phe
ENST00000261826.10:c.*529C>T	ENSP00000261826.6:n.*529C>T
ENST00000328963.9:c.1076C>T	ENSP00000330696.6:p.Ser359Phe
ENST00000535250.5:c.1160C>T	ENSP00000442572.2:n.1160C>T
ENST00000535600.2:c.893C>T	ENSP00000442470.1:n.893C>T
ENST00000537312.5:c.*847C>T	ENSP00000438586.1:n.*847C>T
ENST00000538011.5:c.1215C>T	ENSP00000439247.1:n.1215C>T
ENST00000539606.5:c.1299C>T	ENSP00000445325.1:n.1299C>T
ENST00000539695.5:n.1245C>T
ENST00000541022.5:c.866C>T	ENSP00000441230.1:n.866C>T
ENST00000541564.5:c.939C>T	ENSP00000443640.1:n.939C>T
ENST00000541716.5:c.1087C>T	ENSP00000437729.1:n.1087C>T
NM_002562.5:c.1076C>T	NP_002553.3:p.Ser359Phe
NR_033948.1:n.1442C>T
NR_033949.1:n.1358C>T
NR_033950.1:n.1319C>T
NR_033951.1:n.1303C>T
NR_033952.1:n.1230C>T
NR_033953.1:n.1143C>T
NR_033954.1:n.1122C>T
NR_033955.1:n.1082C>T
NR_033956.1:n.1009C>T
XM_011538418.1:c.809C>T	XP_011536720.1:p.Ser270Phe
XM_011538419.1:c.764C>T	XP_011536721.1:p.Ser255Phe
XM_011538420.1:c.209C>T	XP_011536722.1:p.Ser70Phe
XR_945459.1:n.190-14917G>A
XR_945460.1:n.299-14917G>A
XM_011538419.3:c.764C>T	XP_011536721.1:p.Ser255Phe
XM_011538420.3:c.209C>T	XP_011536722.1:p.Ser70Phe
XM_017019364.2:c.716C>T	XP_016874853.1:p.Ser239Phe
XM_017019365.2:c.716C>T	XP_016874854.1:p.Ser239Phe
XM_017019366.2:c.323C>T	XP_016874855.1:p.Ser108Phe
XM_017019367.2:c.323C>T	XP_016874856.1:p.Ser108Phe
XR_001749352.2:n.186+26164G>A
XR_001749353.2:n.304-14917G>A
XR_001749354.2:n.186+26164G>A
XR_945459.3:n.187-14917G>A
XR_945460.3:n.299-14917G>A
NM_002562.6:c.1076C>T MANE Select	NP_002553.3:p.Ser359Phe
NR_033948.2:n.1394C>T
NR_033949.2:n.1310C>T
NR_033950.2:n.1271C>T
NR_033951.2:n.1255C>T
NR_033952.2:n.1182C>T
NR_033953.2:n.1086C>T
NR_033954.2:n.1074C>T
NR_033955.2:n.1034C>T
NR_033956.2:n.961C>T