Canonical Allele Identifier: CA287074126

Gene: P2RX1

Linked Data

• dbSNP Id: rs979251898
• gnomAD v2: 17-3817571-C-T
• gnomAD v3: 17-3914277-C-T
• gnomAD v4: 17-3914277-C-T
• MyVariant Identifiers: chr17:g.3817571C>T (hg19) ; chr17:g.3914277C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.3914277C>T , CM000679.2:g.3914277C>T	GRCh38
NC_000017.10:g.3817571C>T , CM000679.1:g.3817571C>T	GRCh37
NC_000017.9:g.3764320C>T	NCBI36
NG_012109.1:g.7390G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000225538.4:c.137+1812G>A MANE Select	ENSP00000225538.3:n.137+1812G>A
ENST00000225538.3:c.137+1812G>A	ENSP00000225538.3:n.137+1812G>A
ENST00000571637.1:c.*596+1069G>A	ENSP00000460449.1:n.*596+1069G>A
ENST00000572418.1:n.364+1812G>A
NM_002558.3:c.137+1812G>A	NP_002549.1:n.137+1812G>A
XM_006721529.1:c.137+1812G>A	XP_006721592.1:n.137+1812G>A
XM_011523895.1:c.173+1109G>A	XP_011522197.1:n.173+1109G>A
XM_011523896.1:c.173+1109G>A	XP_011522198.1:n.173+1109G>A
XM_011523897.1:c.137+1812G>A	XP_011522199.1:n.137+1812G>A
XM_011523898.1:c.173+1109G>A	XP_011522200.1:n.173+1109G>A
XM_011523899.1:c.173+1109G>A	XP_011522201.1:n.173+1109G>A
XM_011523900.1:c.173+1109G>A	XP_011522202.1:n.173+1109G>A
XR_934028.1:n.1082+1109G>A
XR_934029.1:n.1082+1109G>A
XR_934030.1:n.1082+1109G>A
XM_006721529.2:c.137+1812G>A	XP_006721592.1:n.137+1812G>A
XM_011523896.3:c.173+1109G>A	XP_011522198.1:n.173+1109G>A
XM_011523897.2:c.137+1812G>A	XP_011522199.1:n.137+1812G>A
XM_011523898.3:c.173+1109G>A	XP_011522200.1:n.173+1109G>A
XM_011523899.3:c.173+1109G>A	XP_011522201.1:n.173+1109G>A
XM_011523900.3:c.173+1109G>A	XP_011522202.1:n.173+1109G>A
XR_934029.3:n.1116+1109G>A
XR_934030.3:n.1116+1109G>A
NM_002558.4:c.137+1812G>A MANE Select	NP_002549.1:n.137+1812G>A