Canonical Allele Identifier: CA386959797

Gene: P2RX7

Linked Data

• MyVariant Identifiers: chr12:g.121615194T>C (hg19) ; chr12:g.121177391T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121177391T>C , CM000674.2:g.121177391T>C	GRCh38
NC_000012.11:g.121615194T>C , CM000674.1:g.121615194T>C	GRCh37
NC_000012.10:g.120099577T>C	NCBI36
NG_011471.2:g.49517T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328963.10:c.1133T>C MANE Select	ENSP00000330696.6:p.Val378Ala
ENST00000261826.10:c.*586T>C	ENSP00000261826.6:n.*586T>C
ENST00000328963.9:c.1133T>C	ENSP00000330696.6:p.Val378Ala
ENST00000535250.5:c.1217T>C	ENSP00000442572.2:n.1217T>C
ENST00000535600.2:c.950T>C	ENSP00000442470.1:n.950T>C
ENST00000537312.5:c.*904T>C	ENSP00000438586.1:n.*904T>C
ENST00000538011.5:c.1272T>C	ENSP00000439247.1:n.1272T>C
ENST00000539606.5:c.1356T>C	ENSP00000445325.1:n.1356T>C
ENST00000539695.5:n.1302T>C
ENST00000541022.5:c.923T>C	ENSP00000441230.1:n.923T>C
ENST00000541564.5:c.996T>C	ENSP00000443640.1:n.996T>C
ENST00000541716.5:c.1144T>C	ENSP00000437729.1:n.1144T>C
NM_002562.5:c.1133T>C	NP_002553.3:p.Val378Ala
NR_033948.1:n.1499T>C
NR_033949.1:n.1415T>C
NR_033950.1:n.1376T>C
NR_033951.1:n.1360T>C
NR_033952.1:n.1287T>C
NR_033953.1:n.1200T>C
NR_033954.1:n.1179T>C
NR_033955.1:n.1139T>C
NR_033956.1:n.1066T>C
XM_011538418.1:c.866T>C	XP_011536720.1:p.Val289Ala
XM_011538419.1:c.821T>C	XP_011536721.1:p.Val274Ala
XM_011538420.1:c.266T>C	XP_011536722.1:p.Val89Ala
XR_945459.1:n.190-14974A>G
XR_945460.1:n.299-14974A>G
XM_011538419.3:c.821T>C	XP_011536721.1:p.Val274Ala
XM_011538420.3:c.266T>C	XP_011536722.1:p.Val89Ala
XM_017019364.2:c.773T>C	XP_016874853.1:p.Val258Ala
XM_017019365.2:c.773T>C	XP_016874854.1:p.Val258Ala
XM_017019366.2:c.380T>C	XP_016874855.1:p.Val127Ala
XM_017019367.2:c.380T>C	XP_016874856.1:p.Val127Ala
XR_001749352.2:n.186+26107A>G
XR_001749353.2:n.304-14974A>G
XR_001749354.2:n.186+26107A>G
XR_945459.3:n.187-14974A>G
XR_945460.3:n.299-14974A>G
NM_002562.6:c.1133T>C MANE Select	NP_002553.3:p.Val378Ala
NR_033948.2:n.1451T>C
NR_033949.2:n.1367T>C
NR_033950.2:n.1328T>C
NR_033951.2:n.1312T>C
NR_033952.2:n.1239T>C
NR_033953.2:n.1143T>C
NR_033954.2:n.1131T>C
NR_033955.2:n.1091T>C
NR_033956.2:n.1018T>C