Canonical Allele Identifier: CA386948132

Gene: P2RX4

Linked Data

• gnomAD v4: 12-121221979-C-T
• MyVariant Identifiers: chr12:g.121659782C>T (hg19) ; chr12:g.121221979C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121221979C>T , CM000674.2:g.121221979C>T	GRCh38
NC_000012.11:g.121659782C>T , CM000674.1:g.121659782C>T	GRCh37
NC_000012.10:g.120144165C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337233.9:c.349C>T MANE Select	ENSP00000336607.4:p.Pro117Ser
ENST00000314442.7:n.4483C>T
ENST00000337233.8:c.349C>T	ENSP00000336607.4:p.Pro117Ser
ENST00000359949.11:c.397C>T	ENSP00000353032.7:p.Pro133Ser
ENST00000499638.6:n.385C>T
ENST00000538417.2:c.279C>T
ENST00000538701.5:c.135-6554C>T	ENSP00000444033.1:n.135-6554C>T
ENST00000540930.5:n.385C>T
ENST00000541187.5:n.195C>T
ENST00000542067.5:c.349C>T	ENSP00000438329.1:p.Pro117Ser
ENST00000543171.5:c.349C>T	ENSP00000438131.2:p.Pro117Ser
ENST00000543318.5:c.349C>T	ENSP00000444274.1:p.Pro117Ser
ENST00000543430.5:n.397C>T
ENST00000543984.5:c.*42C>T	ENSP00000439386.1:n.*42C>T
NM_001256796.1:c.397C>T	NP_001243725.1:p.Pro133Ser
NM_001261397.1:c.349C>T	NP_001248326.1:p.Pro117Ser
NM_001261398.1:c.349C>T	NP_001248327.1:p.Pro117Ser
NM_002560.2:c.349C>T	NP_002551.2:p.Pro117Ser
NR_046372.1:n.653C>T
NR_046373.1:n.505C>T
XM_011538416.1:c.135-6554C>T	XP_011536718.1:n.135-6554C>T
XM_011538417.1:c.397C>T	XP_011536719.1:p.Pro133Ser
XR_944559.1:n.457C>T
XM_011538416.2:c.135-6554C>T	XP_011536718.1:n.135-6554C>T
XR_001748726.2:n.403C>T
XR_001748727.1:n.466C>T
XR_001748728.1:n.466C>T
XR_001748729.2:n.403C>T
XR_944559.2:n.456C>T
NM_001256796.2:c.397C>T	NP_001243725.1:p.Pro133Ser
NM_001261397.2:c.349C>T	NP_001248326.1:p.Pro117Ser
NM_001261398.2:c.349C>T	NP_001248327.1:p.Pro117Ser
NM_002560.3:c.349C>T MANE Select	NP_002551.2:p.Pro117Ser
NR_046372.2:n.385C>T
NR_046373.2:n.237C>T