Canonical Allele Identifier: CA980897752

Gene: P2RX1

Linked Data

• dbSNP Id: rs2056412171
• gnomAD v3: 17-3914249-T-G
• gnomAD v4: 17-3914249-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.3914249T>G , CM000679.2:g.3914249T>G	GRCh38
NC_000017.10:g.3817543T>G , CM000679.1:g.3817543T>G	GRCh37
NC_000017.9:g.3764292T>G	NCBI36
NG_012109.1:g.7418A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000225538.4:c.137+1840A>C MANE Select	ENSP00000225538.3:n.137+1840A>C
ENST00000225538.3:c.137+1840A>C	ENSP00000225538.3:n.137+1840A>C
ENST00000571637.1:c.*596+1097A>C	ENSP00000460449.1:n.*596+1097A>C
ENST00000572418.1:n.364+1840A>C
NM_002558.3:c.137+1840A>C	NP_002549.1:n.137+1840A>C
XM_006721529.1:c.137+1840A>C	XP_006721592.1:n.137+1840A>C
XM_011523895.1:c.173+1137A>C	XP_011522197.1:n.173+1137A>C
XM_011523896.1:c.173+1137A>C	XP_011522198.1:n.173+1137A>C
XM_011523897.1:c.137+1840A>C	XP_011522199.1:n.137+1840A>C
XM_011523898.1:c.173+1137A>C	XP_011522200.1:n.173+1137A>C
XM_011523899.1:c.173+1137A>C	XP_011522201.1:n.173+1137A>C
XM_011523900.1:c.173+1137A>C	XP_011522202.1:n.173+1137A>C
XR_934028.1:n.1082+1137A>C
XR_934029.1:n.1082+1137A>C
XR_934030.1:n.1082+1137A>C
XM_006721529.2:c.137+1840A>C	XP_006721592.1:n.137+1840A>C
XM_011523896.3:c.173+1137A>C	XP_011522198.1:n.173+1137A>C
XM_011523897.2:c.137+1840A>C	XP_011522199.1:n.137+1840A>C
XM_011523898.3:c.173+1137A>C	XP_011522200.1:n.173+1137A>C
XM_011523899.3:c.173+1137A>C	XP_011522201.1:n.173+1137A>C
XM_011523900.3:c.173+1137A>C	XP_011522202.1:n.173+1137A>C
XR_934029.3:n.1116+1137A>C
XR_934030.3:n.1116+1137A>C
NM_002558.4:c.137+1840A>C MANE Select	NP_002549.1:n.137+1840A>C