Canonical Allele Identifier: CA350733364

Gene: GMPPA ASIC4-AS1

Linked Data

• dbSNP Id: rs181901772
• MyVariant Identifiers: chr2:g.220368810G>C (hg19) ; chr2:g.219504088G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219504088G>C , CM000664.2:g.219504088G>C	GRCh38
NC_000002.11:g.220368810G>C , CM000664.1:g.220368810G>C	GRCh37
NC_000002.10:g.220077054G>C	NCBI36
NG_033833.1:g.10224G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341142.8:c.495G>C (GMPPA)	ENSP00000340760.3:p.Leu165Phe
ENST00000435316.6:c.390G>C (GMPPA)	ENSP00000411060.1:p.Leu130Phe
ENST00000455657.6:c.495G>C (GMPPA)	ENSP00000392465.3:p.Leu165Phe
ENST00000480506.6:n.816G>C (GMPPA)
ENST00000496536.2:n.499G>C (GMPPA)
ENST00000622191.2:c.495G>C (GMPPA)	ENSP00000478700.2:p.Leu165Phe
ENST00000682058.1:c.495G>C (GMPPA)	ENSP00000507378.1:p.Leu165Phe
ENST00000682102.1:c.495G>C (GMPPA)	ENSP00000508279.1:p.Leu165Phe
ENST00000682340.1:n.860G>C (GMPPA)
ENST00000682435.1:n.424G>C (GMPPA)
ENST00000682443.1:n.1126G>C (GMPPA)
ENST00000682481.1:c.*125G>C (GMPPA)	ENSP00000507331.1:n.*125G>C
ENST00000682488.1:c.70-2636G>C (GMPPA)	ENSP00000507140.1:n.70-2636G>C
ENST00000682576.1:c.495G>C (GMPPA)	ENSP00000508370.1:p.Leu165Phe
ENST00000683106.1:n.860G>C (GMPPA)
ENST00000683131.1:c.*125G>C (GMPPA)	ENSP00000507530.1:n.*125G>C
ENST00000683241.1:n.860G>C (GMPPA)
ENST00000683382.1:n.584G>C (GMPPA)
ENST00000683386.1:c.*125G>C (GMPPA)	ENSP00000507844.1:n.*125G>C
ENST00000683402.1:c.495G>C (GMPPA)	ENSP00000507137.1:p.Leu165Phe
ENST00000683591.1:c.495G>C (GMPPA)	ENSP00000508406.1:p.Leu165Phe
ENST00000683598.1:c.495G>C (GMPPA)	ENSP00000508168.1:p.Leu165Phe
ENST00000683617.1:n.582G>C (GMPPA)
ENST00000683626.1:c.*125G>C (GMPPA)	ENSP00000507216.1:n.*125G>C
ENST00000683691.1:c.*386G>C (GMPPA)	ENSP00000508392.1:n.*386G>C
ENST00000683746.1:n.431G>C (GMPPA)
ENST00000683752.1:c.144G>C (GMPPA)	ENSP00000507197.1:p.Leu48Phe
ENST00000683864.1:c.*261G>C (GMPPA)	ENSP00000507147.1:n.*261G>C
ENST00000683946.1:c.495G>C (GMPPA)	ENSP00000506941.1:p.Leu165Phe
ENST00000684227.1:c.495G>C (GMPPA)	ENSP00000507190.1:p.Leu165Phe
ENST00000684242.1:n.519G>C (GMPPA)
ENST00000684274.1:n.860G>C (GMPPA)
ENST00000684334.1:n.566G>C (GMPPA)
ENST00000684412.1:n.841G>C (GMPPA)
ENST00000684562.1:n.860G>C (GMPPA)
ENST00000684706.1:n.559G>C (GMPPA)
ENST00000684729.1:c.495G>C (GMPPA)	ENSP00000507441.1:p.Leu165Phe
ENST00000313597.10:c.495G>C (GMPPA) MANE Select	ENSP00000315925.6:p.Leu165Phe
ENST00000313597.9:c.495G>C (GMPPA)	ENSP00000315925.5:p.Leu165Phe
ENST00000341142.7:c.495G>C (GMPPA)	ENSP00000340760.3:p.Leu165Phe
ENST00000358215.8:c.495G>C (GMPPA)	ENSP00000350949.3:p.Leu165Phe
ENST00000373908.5:c.495G>C (GMPPA)	ENSP00000363016.1:p.Leu165Phe
ENST00000373917.7:c.495G>C (GMPPA)	ENSP00000363027.3:p.Leu165Phe
ENST00000435316.5:c.390G>C (GMPPA)	ENSP00000411060.1:p.Leu130Phe
ENST00000443704.5:c.495G>C (GMPPA)	ENSP00000396750.1:p.Leu165Phe
ENST00000455657.5:c.495G>C (GMPPA)	ENSP00000392465.2:p.Leu165Phe
ENST00000481170.1:n.2224G>C (GMPPA)
ENST00000622191.1:c.495G>C (GMPPA)	ENSP00000478700.1:p.Leu165Phe
ENST00000635609.1:n.490-707G>C (GMPPA)
NM_013335.3:c.495G>C (GMPPA)	NP_037467.2:p.Leu165Phe
NM_205847.2:c.495G>C (GMPPA)	NP_995319.1:p.Leu165Phe
XM_005246483.2:c.495G>C (GMPPA)	XP_005246540.1:p.Leu165Phe
XM_005246485.2:c.495G>C (GMPPA)	XP_005246542.1:p.Leu165Phe
XM_005246486.2:c.495G>C (GMPPA)	XP_005246543.1:p.Leu165Phe
XM_011511032.1:c.495G>C (GMPPA)	XP_011509334.1:p.Leu165Phe
XM_011511033.1:c.120G>C (GMPPA)	XP_011509335.1:p.Leu40Phe
XM_011511034.1:c.495G>C (GMPPA)	XP_011509336.1:p.Leu165Phe
XM_011511035.1:c.495G>C (GMPPA)	XP_011509337.1:p.Leu165Phe
XR_241307.2:n.589G>C (GMPPA)
XR_923921.1:n.352+12608C>G (ASIC4-AS1)
XM_005246486.3:c.495G>C (GMPPA)	XP_005246543.1:p.Leu165Phe
XM_024452823.1:c.495G>C (GMPPA)	XP_024308591.1:p.Leu165Phe
XR_923921.2:n.391+12608C>G (ASIC4-AS1)
NM_001374294.1:c.495G>C (GMPPA)	NP_001361223.1:p.Leu165Phe
NM_001374295.1:c.495G>C (GMPPA)	NP_001361224.1:p.Leu165Phe
NM_013335.4:c.495G>C (GMPPA) MANE Select	NP_037467.2:p.Leu165Phe
NM_205847.3:c.495G>C (GMPPA)	NP_995319.1:p.Leu165Phe