Canonical Allele Identifier: CA624585198
Gene: P2RX1 HGNC NCBI

Linked Data

dbSNP Id: rs1422983341
gnomAD v2: 17-3817632-G-A
gnomAD v3: 17-3914338-G-A
gnomAD v4: 17-3914338-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.3914338G>A , CM000679.2:g.3914338G>A GRCh38
NC_000017.10:g.3817632G>A , CM000679.1:g.3817632G>A GRCh37
NC_000017.9:g.3764381G>A NCBI36
NG_012109.1:g.7329C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000225538.4:c.137+1751C>T MANE Select ENSP00000225538.3:n.137+1751C>T
ENST00000225538.3:c.137+1751C>T ENSP00000225538.3:n.137+1751C>T
ENST00000571637.1:c.*596+1008C>T ENSP00000460449.1:n.*596+1008C>T
ENST00000572418.1:n.364+1751C>T
NM_002558.3:c.137+1751C>T NP_002549.1:n.137+1751C>T
XM_006721529.1:c.137+1751C>T XP_006721592.1:n.137+1751C>T
XM_011523895.1:c.173+1048C>T XP_011522197.1:n.173+1048C>T
XM_011523896.1:c.173+1048C>T XP_011522198.1:n.173+1048C>T
XM_011523897.1:c.137+1751C>T XP_011522199.1:n.137+1751C>T
XM_011523898.1:c.173+1048C>T XP_011522200.1:n.173+1048C>T
XM_011523899.1:c.173+1048C>T XP_011522201.1:n.173+1048C>T
XM_011523900.1:c.173+1048C>T XP_011522202.1:n.173+1048C>T
XR_934028.1:n.1082+1048C>T
XR_934029.1:n.1082+1048C>T
XR_934030.1:n.1082+1048C>T
XM_006721529.2:c.137+1751C>T XP_006721592.1:n.137+1751C>T
XM_011523896.3:c.173+1048C>T XP_011522198.1:n.173+1048C>T
XM_011523897.2:c.137+1751C>T XP_011522199.1:n.137+1751C>T
XM_011523898.3:c.173+1048C>T XP_011522200.1:n.173+1048C>T
XM_011523899.3:c.173+1048C>T XP_011522201.1:n.173+1048C>T
XM_011523900.3:c.173+1048C>T XP_011522202.1:n.173+1048C>T
XR_934029.3:n.1116+1048C>T
XR_934030.3:n.1116+1048C>T
NM_002558.4:c.137+1751C>T MANE Select NP_002549.1:n.137+1751C>T