Canonical Allele Identifier: CA350738288

Gene: GMPPA ASIC4-AS1

Linked Data

• dbSNP Id: rs397518461
• MyVariant Identifiers: chr2:g.220370982A>G (hg19) ; chr2:g.219506260A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219506260A>G , CM000664.2:g.219506260A>G	GRCh38
NC_000002.11:g.220370982A>G , CM000664.1:g.220370982A>G	GRCh37
NC_000002.10:g.220079226A>G	NCBI36
NG_033833.1:g.12396A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000341142.8:c.1000A>G (GMPPA)	ENSP00000340760.3:p.Thr334Ala
ENST00000455657.6:c.*275A>G (GMPPA)	ENSP00000392465.3:n.*275A>G
ENST00000496536.2:n.1009A>G (GMPPA)
ENST00000622191.2:c.1000A>G (GMPPA)	ENSP00000478700.2:p.Thr334Ala
ENST00000682058.1:c.*1031A>G (GMPPA)	ENSP00000507378.1:n.*1031A>G
ENST00000682102.1:c.*240A>G (GMPPA)	ENSP00000508279.1:n.*240A>G
ENST00000682340.1:n.2633A>G (GMPPA)
ENST00000682435.1:n.1604A>G (GMPPA)
ENST00000682443.1:n.2286A>G (GMPPA)
ENST00000682481.1:c.*1285A>G (GMPPA)	ENSP00000507331.1:n.*1285A>G
ENST00000682488.1:c.70-464A>G (GMPPA)	ENSP00000507140.1:n.70-464A>G
ENST00000682576.1:c.*1048A>G (GMPPA)	ENSP00000508370.1:n.*1048A>G
ENST00000683106.1:n.2397A>G (GMPPA)
ENST00000683131.1:c.*1285A>G (GMPPA)	ENSP00000507530.1:n.*1285A>G
ENST00000683241.1:n.1385A>G (GMPPA)
ENST00000683382.1:n.2262A>G (GMPPA)
ENST00000683386.1:c.*630A>G (GMPPA)	ENSP00000507844.1:n.*630A>G
ENST00000683402.1:c.*381A>G (GMPPA)	ENSP00000507137.1:n.*381A>G
ENST00000683591.1:c.*1031A>G (GMPPA)	ENSP00000508406.1:n.*1031A>G
ENST00000683598.1:c.*1031A>G (GMPPA)	ENSP00000508168.1:n.*1031A>G
ENST00000683617.1:n.2118A>G (GMPPA)
ENST00000683626.1:c.*1644A>G (GMPPA)	ENSP00000507216.1:n.*1644A>G
ENST00000683691.1:c.*911A>G (GMPPA)	ENSP00000508392.1:n.*911A>G
ENST00000683746.1:n.1950A>G (GMPPA)
ENST00000683752.1:c.649A>G (GMPPA)	ENSP00000507197.1:p.Thr217Ala
ENST00000683864.1:c.*1780A>G (GMPPA)	ENSP00000507147.1:n.*1780A>G
ENST00000683946.1:c.1000A>G (GMPPA)	ENSP00000506941.1:p.Thr334Ala
ENST00000684227.1:c.*1051A>G (GMPPA)	ENSP00000507190.1:n.*1051A>G
ENST00000684242.1:n.2055A>G (GMPPA)
ENST00000684274.1:n.1370A>G (GMPPA)
ENST00000684334.1:n.2462A>G (GMPPA)
ENST00000684562.1:n.2040A>G (GMPPA)
ENST00000684706.1:n.1064A>G (GMPPA)
ENST00000684729.1:c.*1051A>G (GMPPA)	ENSP00000507441.1:n.*1051A>G
ENST00000313597.10:c.1000A>G (GMPPA) MANE Select	ENSP00000315925.6:p.Thr334Ala
ENST00000313597.9:c.1000A>G (GMPPA)	ENSP00000315925.5:p.Thr334Ala
ENST00000341142.7:c.1000A>G (GMPPA)	ENSP00000340760.3:p.Thr334Ala
ENST00000358215.8:c.1000A>G (GMPPA)	ENSP00000350949.3:p.Thr334Ala
ENST00000373908.5:c.1000A>G (GMPPA)	ENSP00000363016.1:p.Thr334Ala
ENST00000373917.7:c.1159A>G (GMPPA)	ENSP00000363027.3:p.Thr387Ala
ENST00000443704.5:c.*147A>G (GMPPA)	ENSP00000396750.1:n.*147A>G
ENST00000480034.1:c.137A>G (GMPPA)
ENST00000481170.1:n.4215A>G (GMPPA)
ENST00000496536.1:n.140A>G (GMPPA)
ENST00000622191.1:c.1000A>G (GMPPA)	ENSP00000478700.1:p.Thr334Ala
NM_013335.3:c.1000A>G (GMPPA)	NP_037467.2:p.Thr334Ala
NM_205847.2:c.1000A>G (GMPPA)	NP_995319.1:p.Thr334Ala
XM_005246483.2:c.1015A>G (GMPPA)	XP_005246540.1:p.Thr339Ala
XM_005246485.2:c.1015A>G (GMPPA)	XP_005246542.1:p.Thr339Ala
XM_005246486.2:c.1000A>G (GMPPA)	XP_005246543.1:p.Thr334Ala
XM_011511032.1:c.1015A>G (GMPPA)	XP_011509334.1:p.Thr339Ala
XM_011511033.1:c.640A>G (GMPPA)	XP_011509335.1:p.Thr214Ala
XR_241307.2:n.1114A>G (GMPPA)
XR_923921.1:n.352+10436T>C (ASIC4-AS1)
XM_005246486.3:c.1000A>G (GMPPA)	XP_005246543.1:p.Thr334Ala
XM_024452823.1:c.1000A>G (GMPPA)	XP_024308591.1:p.Thr334Ala
XR_923921.2:n.391+10436T>C (ASIC4-AS1)
NM_001374294.1:c.1000A>G (GMPPA)	NP_001361223.1:p.Thr334Ala
NM_001374295.1:c.1000A>G (GMPPA)	NP_001361224.1:p.Thr334Ala
NM_013335.4:c.1000A>G (GMPPA) MANE Select	NP_037467.2:p.Thr334Ala
NM_205847.3:c.1000A>G (GMPPA)	NP_995319.1:p.Thr334Ala