Canonical Allele Identifier: CA386948095

Gene: P2RX4

Linked Data

• MyVariant Identifiers: chr12:g.121659776C>A (hg19) ; chr12:g.121221973C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121221973C>A , CM000674.2:g.121221973C>A	GRCh38
NC_000012.11:g.121659776C>A , CM000674.1:g.121659776C>A	GRCh37
NC_000012.10:g.120144159C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337233.9:c.343C>A MANE Select	ENSP00000336607.4:p.Leu115Met
ENST00000314442.7:n.4477C>A
ENST00000337233.8:c.343C>A	ENSP00000336607.4:p.Leu115Met
ENST00000359949.11:c.391C>A	ENSP00000353032.7:p.Leu131Met
ENST00000499638.6:n.379C>A
ENST00000538417.2:c.273C>A
ENST00000538701.5:c.135-6560C>A	ENSP00000444033.1:n.135-6560C>A
ENST00000540930.5:n.379C>A
ENST00000541187.5:n.189C>A
ENST00000542067.5:c.343C>A	ENSP00000438329.1:p.Leu115Met
ENST00000543171.5:c.343C>A	ENSP00000438131.2:p.Leu115Met
ENST00000543318.5:c.343C>A	ENSP00000444274.1:p.Leu115Met
ENST00000543430.5:n.391C>A
ENST00000543984.5:c.*36C>A	ENSP00000439386.1:n.*36C>A
NM_001256796.1:c.391C>A	NP_001243725.1:p.Leu131Met
NM_001261397.1:c.343C>A	NP_001248326.1:p.Leu115Met
NM_001261398.1:c.343C>A	NP_001248327.1:p.Leu115Met
NM_002560.2:c.343C>A	NP_002551.2:p.Leu115Met
NR_046372.1:n.647C>A
NR_046373.1:n.499C>A
XM_011538416.1:c.135-6560C>A	XP_011536718.1:n.135-6560C>A
XM_011538417.1:c.391C>A	XP_011536719.1:p.Leu131Met
XR_944559.1:n.451C>A
XM_011538416.2:c.135-6560C>A	XP_011536718.1:n.135-6560C>A
XR_001748726.2:n.397C>A
XR_001748727.1:n.460C>A
XR_001748728.1:n.460C>A
XR_001748729.2:n.397C>A
XR_944559.2:n.450C>A
NM_001256796.2:c.391C>A	NP_001243725.1:p.Leu131Met
NM_001261397.2:c.343C>A	NP_001248326.1:p.Leu115Met
NM_001261398.2:c.343C>A	NP_001248327.1:p.Leu115Met
NM_002560.3:c.343C>A MANE Select	NP_002551.2:p.Leu115Met
NR_046372.2:n.379C>A
NR_046373.2:n.231C>A