Canonical Allele Identifier: CA386959168

Gene: P2RX7

Linked Data

• COSMIC: COSM5739837
• MyVariant Identifiers: chr12:g.121615136T>C (hg19) ; chr12:g.121177333T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121177333T>C , CM000674.2:g.121177333T>C	GRCh38
NC_000012.11:g.121615136T>C , CM000674.1:g.121615136T>C	GRCh37
NC_000012.10:g.120099519T>C	NCBI36
NG_011471.2:g.49459T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328963.10:c.1075T>C MANE Select	ENSP00000330696.6:p.Ser359Pro
ENST00000261826.10:c.*528T>C	ENSP00000261826.6:n.*528T>C
ENST00000328963.9:c.1075T>C	ENSP00000330696.6:p.Ser359Pro
ENST00000535250.5:c.1159T>C	ENSP00000442572.2:n.1159T>C
ENST00000535600.2:c.892T>C	ENSP00000442470.1:n.892T>C
ENST00000537312.5:c.*846T>C	ENSP00000438586.1:n.*846T>C
ENST00000538011.5:c.1214T>C	ENSP00000439247.1:n.1214T>C
ENST00000539606.5:c.1298T>C	ENSP00000445325.1:n.1298T>C
ENST00000539695.5:n.1244T>C
ENST00000541022.5:c.865T>C	ENSP00000441230.1:n.865T>C
ENST00000541564.5:c.938T>C	ENSP00000443640.1:n.938T>C
ENST00000541716.5:c.1086T>C	ENSP00000437729.1:n.1086T>C
NM_002562.5:c.1075T>C	NP_002553.3:p.Ser359Pro
NR_033948.1:n.1441T>C
NR_033949.1:n.1357T>C
NR_033950.1:n.1318T>C
NR_033951.1:n.1302T>C
NR_033952.1:n.1229T>C
NR_033953.1:n.1142T>C
NR_033954.1:n.1121T>C
NR_033955.1:n.1081T>C
NR_033956.1:n.1008T>C
XM_011538418.1:c.808T>C	XP_011536720.1:p.Ser270Pro
XM_011538419.1:c.763T>C	XP_011536721.1:p.Ser255Pro
XM_011538420.1:c.208T>C	XP_011536722.1:p.Ser70Pro
XR_945459.1:n.190-14916A>G
XR_945460.1:n.299-14916A>G
XM_011538419.3:c.763T>C	XP_011536721.1:p.Ser255Pro
XM_011538420.3:c.208T>C	XP_011536722.1:p.Ser70Pro
XM_017019364.2:c.715T>C	XP_016874853.1:p.Ser239Pro
XM_017019365.2:c.715T>C	XP_016874854.1:p.Ser239Pro
XM_017019366.2:c.322T>C	XP_016874855.1:p.Ser108Pro
XM_017019367.2:c.322T>C	XP_016874856.1:p.Ser108Pro
XR_001749352.2:n.186+26165A>G
XR_001749353.2:n.304-14916A>G
XR_001749354.2:n.186+26165A>G
XR_945459.3:n.187-14916A>G
XR_945460.3:n.299-14916A>G
NM_002562.6:c.1075T>C MANE Select	NP_002553.3:p.Ser359Pro
NR_033948.2:n.1393T>C
NR_033949.2:n.1309T>C
NR_033950.2:n.1270T>C
NR_033951.2:n.1254T>C
NR_033952.2:n.1181T>C
NR_033953.2:n.1085T>C
NR_033954.2:n.1073T>C
NR_033955.2:n.1033T>C
NR_033956.2:n.960T>C