Canonical Allele Identifier: CA386959636

Gene: P2RX7

Linked Data

• MyVariant Identifiers: chr12:g.121615182G>C (hg19) ; chr12:g.121177379G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121177379G>C , CM000674.2:g.121177379G>C	GRCh38
NC_000012.11:g.121615182G>C , CM000674.1:g.121615182G>C	GRCh37
NC_000012.10:g.120099565G>C	NCBI36
NG_011471.2:g.49505G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328963.10:c.1121G>C MANE Select	ENSP00000330696.6:p.Cys374Ser
ENST00000261826.10:c.*574G>C	ENSP00000261826.6:n.*574G>C
ENST00000328963.9:c.1121G>C	ENSP00000330696.6:p.Cys374Ser
ENST00000535250.5:c.1205G>C	ENSP00000442572.2:n.1205G>C
ENST00000535600.2:c.938G>C	ENSP00000442470.1:n.938G>C
ENST00000537312.5:c.*892G>C	ENSP00000438586.1:n.*892G>C
ENST00000538011.5:c.1260G>C	ENSP00000439247.1:n.1260G>C
ENST00000539606.5:c.1344G>C	ENSP00000445325.1:n.1344G>C
ENST00000539695.5:n.1290G>C
ENST00000541022.5:c.911G>C	ENSP00000441230.1:n.911G>C
ENST00000541564.5:c.984G>C	ENSP00000443640.1:n.984G>C
ENST00000541716.5:c.1132G>C	ENSP00000437729.1:n.1132G>C
NM_002562.5:c.1121G>C	NP_002553.3:p.Cys374Ser
NR_033948.1:n.1487G>C
NR_033949.1:n.1403G>C
NR_033950.1:n.1364G>C
NR_033951.1:n.1348G>C
NR_033952.1:n.1275G>C
NR_033953.1:n.1188G>C
NR_033954.1:n.1167G>C
NR_033955.1:n.1127G>C
NR_033956.1:n.1054G>C
XM_011538418.1:c.854G>C	XP_011536720.1:p.Cys285Ser
XM_011538419.1:c.809G>C	XP_011536721.1:p.Cys270Ser
XM_011538420.1:c.254G>C	XP_011536722.1:p.Cys85Ser
XR_945459.1:n.190-14962C>G
XR_945460.1:n.299-14962C>G
XM_011538419.3:c.809G>C	XP_011536721.1:p.Cys270Ser
XM_011538420.3:c.254G>C	XP_011536722.1:p.Cys85Ser
XM_017019364.2:c.761G>C	XP_016874853.1:p.Cys254Ser
XM_017019365.2:c.761G>C	XP_016874854.1:p.Cys254Ser
XM_017019366.2:c.368G>C	XP_016874855.1:p.Cys123Ser
XM_017019367.2:c.368G>C	XP_016874856.1:p.Cys123Ser
XR_001749352.2:n.186+26119C>G
XR_001749353.2:n.304-14962C>G
XR_001749354.2:n.186+26119C>G
XR_945459.3:n.187-14962C>G
XR_945460.3:n.299-14962C>G
NM_002562.6:c.1121G>C MANE Select	NP_002553.3:p.Cys374Ser
NR_033948.2:n.1439G>C
NR_033949.2:n.1355G>C
NR_033950.2:n.1316G>C
NR_033951.2:n.1300G>C
NR_033952.2:n.1227G>C
NR_033953.2:n.1131G>C
NR_033954.2:n.1119G>C
NR_033955.2:n.1079G>C
NR_033956.2:n.1006G>C