Canonical Allele Identifier: CA386960131

Gene: P2RX7

Linked Data

• MyVariant Identifiers: chr12:g.121615230C>T (hg19) ; chr12:g.121177427C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121177427C>T , CM000674.2:g.121177427C>T	GRCh38
NC_000012.11:g.121615230C>T , CM000674.1:g.121615230C>T	GRCh37
NC_000012.10:g.120099613C>T	NCBI36
NG_011471.2:g.49553C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328963.10:c.1169C>T MANE Select	ENSP00000330696.6:p.Ser390Phe
ENST00000261826.10:c.*622C>T	ENSP00000261826.6:n.*622C>T
ENST00000328963.9:c.1169C>T	ENSP00000330696.6:p.Ser390Phe
ENST00000535250.5:c.1253C>T	ENSP00000442572.2:n.1253C>T
ENST00000535600.2:c.986C>T	ENSP00000442470.1:n.986C>T
ENST00000537312.5:c.*940C>T	ENSP00000438586.1:n.*940C>T
ENST00000538011.5:c.1308C>T	ENSP00000439247.1:n.1308C>T
ENST00000539606.5:c.1392C>T	ENSP00000445325.1:n.1392C>T
ENST00000539695.5:n.1338C>T
ENST00000541022.5:c.959C>T	ENSP00000441230.1:n.959C>T
ENST00000541564.5:c.1032C>T	ENSP00000443640.1:n.1032C>T
ENST00000541716.5:c.1180C>T	ENSP00000437729.1:n.1180C>T
NM_002562.5:c.1169C>T	NP_002553.3:p.Ser390Phe
NR_033948.1:n.1535C>T
NR_033949.1:n.1451C>T
NR_033950.1:n.1412C>T
NR_033951.1:n.1396C>T
NR_033952.1:n.1323C>T
NR_033953.1:n.1236C>T
NR_033954.1:n.1215C>T
NR_033955.1:n.1175C>T
NR_033956.1:n.1102C>T
XM_011538418.1:c.902C>T	XP_011536720.1:p.Ser301Phe
XM_011538419.1:c.857C>T	XP_011536721.1:p.Ser286Phe
XM_011538420.1:c.302C>T	XP_011536722.1:p.Ser101Phe
XR_945459.1:n.190-15010G>A
XR_945460.1:n.299-15010G>A
XM_011538419.3:c.857C>T	XP_011536721.1:p.Ser286Phe
XM_011538420.3:c.302C>T	XP_011536722.1:p.Ser101Phe
XM_017019364.2:c.809C>T	XP_016874853.1:p.Ser270Phe
XM_017019365.2:c.809C>T	XP_016874854.1:p.Ser270Phe
XM_017019366.2:c.416C>T	XP_016874855.1:p.Ser139Phe
XM_017019367.2:c.416C>T	XP_016874856.1:p.Ser139Phe
XR_001749352.2:n.186+26071G>A
XR_001749353.2:n.304-15010G>A
XR_001749354.2:n.186+26071G>A
XR_945459.3:n.187-15010G>A
XR_945460.3:n.299-15010G>A
NM_002562.6:c.1169C>T MANE Select	NP_002553.3:p.Ser390Phe
NR_033948.2:n.1487C>T
NR_033949.2:n.1403C>T
NR_033950.2:n.1364C>T
NR_033951.2:n.1348C>T
NR_033952.2:n.1275C>T
NR_033953.2:n.1179C>T
NR_033954.2:n.1167C>T
NR_033955.2:n.1127C>T
NR_033956.2:n.1054C>T