Canonical Allele Identifier: CA14443691

Gene: P2RX1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.3914315G>A , CM000679.2:g.3914315G>A	GRCh38
NC_000017.10:g.3817609G>A , CM000679.1:g.3817609G>A	GRCh37
NC_000017.9:g.3764358G>A	NCBI36
NG_012109.1:g.7352C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_002558.4:c.137+1774C>T MANE Select	NP_002549.1:n.137+1774C>T
ENST00000225538.4:c.137+1774C>T MANE Select	ENSP00000225538.3:n.137+1774C>T
NM_002558.3:c.137+1774C>T	NP_002549.1:n.137+1774C>T
ENST00000225538.3:c.137+1774C>T	ENSP00000225538.3:n.137+1774C>T
ENST00000571637.1:c.*596+1031C>T	ENSP00000460449.1:n.*596+1031C>T
ENST00000572418.1:n.364+1774C>T
XM_006721529.1:c.137+1774C>T	XP_006721592.1:n.137+1774C>T
XM_006721529.2:c.137+1774C>T	XP_006721592.1:n.137+1774C>T
XM_011523895.1:c.173+1071C>T	XP_011522197.1:n.173+1071C>T
XM_011523896.1:c.173+1071C>T	XP_011522198.1:n.173+1071C>T
XM_011523896.3:c.173+1071C>T	XP_011522198.1:n.173+1071C>T
XM_011523897.1:c.137+1774C>T	XP_011522199.1:n.137+1774C>T
XM_011523897.2:c.137+1774C>T	XP_011522199.1:n.137+1774C>T
XM_011523898.1:c.173+1071C>T	XP_011522200.1:n.173+1071C>T
XM_011523898.3:c.173+1071C>T	XP_011522200.1:n.173+1071C>T
XM_011523899.1:c.173+1071C>T	XP_011522201.1:n.173+1071C>T
XM_011523899.3:c.173+1071C>T	XP_011522201.1:n.173+1071C>T
XM_011523900.1:c.173+1071C>T	XP_011522202.1:n.173+1071C>T
XM_011523900.3:c.173+1071C>T	XP_011522202.1:n.173+1071C>T
XR_934028.1:n.1082+1071C>T
XR_934029.1:n.1082+1071C>T
XR_934029.3:n.1116+1071C>T
XR_934030.1:n.1082+1071C>T
XR_934030.3:n.1116+1071C>T