Canonical Allele Identifier: CA2128335
Gene: GMPPA HGNC NCBI
ASIC4-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.219505737C>T , CM000664.2:g.219505737C>T GRCh38
NC_000002.11:g.220370459C>T , CM000664.1:g.220370459C>T GRCh37
NC_000002.10:g.220078703C>T NCBI36
NG_033833.1:g.11873C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000341142.8:c.876C>T (GMPPA) ENSP00000340760.3:p.Thr292=
ENST00000455657.6:c.*151C>T (GMPPA) ENSP00000392465.3:n.*151C>T
ENST00000496536.2:n.885C>T (GMPPA)
ENST00000622191.2:c.876C>T (GMPPA) ENSP00000478700.2:p.Thr292=
ENST00000682058.1:c.*907C>T (GMPPA) ENSP00000507378.1:n.*907C>T
ENST00000682102.1:c.*116C>T (GMPPA) ENSP00000508279.1:n.*116C>T
ENST00000682340.1:n.2509C>T (GMPPA)
ENST00000682435.1:n.1480C>T (GMPPA)
ENST00000682443.1:n.2162C>T (GMPPA)
ENST00000682481.1:c.*1161C>T (GMPPA) ENSP00000507331.1:n.*1161C>T
ENST00000682488.1:c.70-987C>T (GMPPA) ENSP00000507140.1:n.70-987C>T
ENST00000682576.1:c.*924C>T (GMPPA) ENSP00000508370.1:n.*924C>T
ENST00000683106.1:n.2055C>T (GMPPA)
ENST00000683131.1:c.*1161C>T (GMPPA) ENSP00000507530.1:n.*1161C>T
ENST00000683241.1:n.1261C>T (GMPPA)
ENST00000683382.1:n.2138C>T (GMPPA)
ENST00000683386.1:c.*506C>T (GMPPA) ENSP00000507844.1:n.*506C>T
ENST00000683402.1:c.*257C>T (GMPPA) ENSP00000507137.1:n.*257C>T
ENST00000683591.1:c.*907C>T (GMPPA) ENSP00000508406.1:n.*907C>T
ENST00000683598.1:c.*907C>T (GMPPA) ENSP00000508168.1:n.*907C>T
ENST00000683617.1:n.1994C>T (GMPPA)
ENST00000683626.1:c.*1520C>T (GMPPA) ENSP00000507216.1:n.*1520C>T
ENST00000683691.1:c.*787C>T (GMPPA) ENSP00000508392.1:n.*787C>T
ENST00000683746.1:n.1826C>T (GMPPA)
ENST00000683752.1:c.525C>T (GMPPA) ENSP00000507197.1:p.Thr175=
ENST00000683864.1:c.*1656C>T (GMPPA) ENSP00000507147.1:n.*1656C>T
ENST00000683946.1:c.876C>T (GMPPA) ENSP00000506941.1:p.Thr292=
ENST00000684227.1:c.*927C>T (GMPPA) ENSP00000507190.1:n.*927C>T
ENST00000684242.1:n.1931C>T (GMPPA)
ENST00000684274.1:n.1246C>T (GMPPA)
ENST00000684334.1:n.2120C>T (GMPPA)
ENST00000684412.1:n.1381C>T (GMPPA)
ENST00000684562.1:n.1916C>T (GMPPA)
ENST00000684706.1:n.940C>T (GMPPA)
ENST00000684729.1:c.*927C>T (GMPPA) ENSP00000507441.1:n.*927C>T
ENST00000313597.10:c.876C>T (GMPPA) MANE Select ENSP00000315925.6:p.Thr292=
ENST00000313597.9:c.876C>T (GMPPA) ENSP00000315925.5:p.Thr292=
ENST00000341142.7:c.876C>T (GMPPA) ENSP00000340760.3:p.Thr292=
ENST00000358215.8:c.876C>T (GMPPA) ENSP00000350949.3:p.Thr292=
ENST00000373908.5:c.876C>T (GMPPA) ENSP00000363016.1:p.Thr292=
ENST00000373917.7:c.1035C>T (GMPPA) ENSP00000363027.3:p.Thr345=
ENST00000443704.5:c.*23C>T (GMPPA) ENSP00000396750.1:n.*23C>T
ENST00000480034.1:c.13C>T (GMPPA)
ENST00000481170.1:n.3873C>T (GMPPA)
ENST00000622191.1:c.876C>T (GMPPA) ENSP00000478700.1:p.Thr292=
NM_013335.3:c.876C>T (GMPPA) NP_037467.2:p.Thr292=
NM_205847.2:c.876C>T (GMPPA) NP_995319.1:p.Thr292=
XM_005246483.2:c.891C>T (GMPPA) XP_005246540.1:p.Thr297=
XM_005246485.2:c.891C>T (GMPPA) XP_005246542.1:p.Thr297=
XM_005246486.2:c.876C>T (GMPPA) XP_005246543.1:p.Thr292=
XM_011511032.1:c.891C>T (GMPPA) XP_011509334.1:p.Thr297=
XM_011511033.1:c.516C>T (GMPPA) XP_011509335.1:p.Thr172=
XM_011511034.1:c.*23C>T (GMPPA) XP_011509336.1:n.*23C>T
XR_241307.2:n.990C>T (GMPPA)
XR_923921.1:n.352+10959G>A (ASIC4-AS1)
XM_005246486.3:c.876C>T (GMPPA) XP_005246543.1:p.Thr292=
XM_024452823.1:c.876C>T (GMPPA) XP_024308591.1:p.Thr292=
XR_923921.2:n.391+10959G>A (ASIC4-AS1)
NM_001374294.1:c.876C>T (GMPPA) NP_001361223.1:p.Thr292=
NM_001374295.1:c.876C>T (GMPPA) NP_001361224.1:p.Thr292=
NM_013335.4:c.876C>T (GMPPA) MANE Select NP_037467.2:p.Thr292=
NM_205847.3:c.876C>T (GMPPA) NP_995319.1:p.Thr292=