Canonical Allele Identifier: CA386948373

Gene: P2RX4

Linked Data

• MyVariant Identifiers: chr12:g.121659915G>T (hg19) ; chr12:g.121222112G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121222112G>T , CM000674.2:g.121222112G>T	GRCh38
NC_000012.11:g.121659915G>T , CM000674.1:g.121659915G>T	GRCh37
NC_000012.10:g.120144298G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337233.9:c.373G>T MANE Select	ENSP00000336607.4:p.Val125Leu
ENST00000314442.7:n.4507G>T
ENST00000337233.8:c.373G>T	ENSP00000336607.4:p.Val125Leu
ENST00000359949.11:c.421G>T	ENSP00000353032.7:p.Val141Leu
ENST00000499638.6:n.409G>T
ENST00000538417.2:c.303G>T
ENST00000538701.5:c.135-6421G>T	ENSP00000444033.1:n.135-6421G>T
ENST00000540930.5:n.409G>T
ENST00000541187.5:n.219G>T
ENST00000542067.5:c.373G>T	ENSP00000438329.1:p.Val125Leu
ENST00000543171.5:c.373G>T	ENSP00000438131.2:p.Val125Leu
ENST00000543318.5:c.373G>T	ENSP00000444274.1:p.Val125Leu
ENST00000543430.5:n.421G>T
ENST00000543984.5:c.*66G>T	ENSP00000439386.1:n.*66G>T
NM_001256796.1:c.421G>T	NP_001243725.1:p.Val141Leu
NM_001261397.1:c.373G>T	NP_001248326.1:p.Val125Leu
NM_001261398.1:c.373G>T	NP_001248327.1:p.Val125Leu
NM_002560.2:c.373G>T	NP_002551.2:p.Val125Leu
NR_046372.1:n.677G>T
NR_046373.1:n.529G>T
XM_011538416.1:c.135-6421G>T	XP_011536718.1:n.135-6421G>T
XM_011538417.1:c.421G>T	XP_011536719.1:p.Val141Leu
XR_944559.1:n.481G>T
XM_011538416.2:c.135-6421G>T	XP_011536718.1:n.135-6421G>T
XR_001748726.2:n.427G>T
XR_001748727.1:n.490G>T
XR_001748728.1:n.490G>T
XR_001748729.2:n.427G>T
XR_944559.2:n.480G>T
NM_001256796.2:c.421G>T	NP_001243725.1:p.Val141Leu
NM_001261397.2:c.373G>T	NP_001248326.1:p.Val125Leu
NM_001261398.2:c.373G>T	NP_001248327.1:p.Val125Leu
NM_002560.3:c.373G>T MANE Select	NP_002551.2:p.Val125Leu
NR_046372.2:n.409G>T
NR_046373.2:n.261G>T