Canonical Allele Identifier: CA350733836

Gene: GMPPA ASIC4-AS1

Linked Data

• MyVariant Identifiers: chr2:g.220368895C>G (hg19) ; chr2:g.219504173C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219504173C>G , CM000664.2:g.219504173C>G	GRCh38
NC_000002.11:g.220368895C>G , CM000664.1:g.220368895C>G	GRCh37
NC_000002.10:g.220077139C>G	NCBI36
NG_033833.1:g.10309C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341142.8:c.580C>G (GMPPA)	ENSP00000340760.3:p.Leu194Val
ENST00000435316.6:c.475C>G (GMPPA)	ENSP00000411060.1:p.Leu159Val
ENST00000455657.6:c.580C>G (GMPPA)	ENSP00000392465.3:p.Leu194Val
ENST00000480506.6:n.901C>G (GMPPA)
ENST00000496536.2:n.584C>G (GMPPA)
ENST00000622191.2:c.580C>G (GMPPA)	ENSP00000478700.2:p.Leu194Val
ENST00000682058.1:c.580C>G (GMPPA)	ENSP00000507378.1:p.Leu194Val
ENST00000682102.1:c.580C>G (GMPPA)	ENSP00000508279.1:p.Leu194Val
ENST00000682340.1:n.945C>G (GMPPA)
ENST00000682435.1:n.509C>G (GMPPA)
ENST00000682443.1:n.1211C>G (GMPPA)
ENST00000682481.1:c.*210C>G (GMPPA)	ENSP00000507331.1:n.*210C>G
ENST00000682488.1:c.70-2551C>G (GMPPA)	ENSP00000507140.1:n.70-2551C>G
ENST00000682576.1:c.580C>G (GMPPA)	ENSP00000508370.1:p.Leu194Val
ENST00000683106.1:n.945C>G (GMPPA)
ENST00000683131.1:c.*210C>G (GMPPA)	ENSP00000507530.1:n.*210C>G
ENST00000683241.1:n.945C>G (GMPPA)
ENST00000683382.1:n.669C>G (GMPPA)
ENST00000683386.1:c.*210C>G (GMPPA)	ENSP00000507844.1:n.*210C>G
ENST00000683402.1:c.580C>G (GMPPA)	ENSP00000507137.1:p.Leu194Val
ENST00000683591.1:c.580C>G (GMPPA)	ENSP00000508406.1:p.Leu194Val
ENST00000683598.1:c.580C>G (GMPPA)	ENSP00000508168.1:p.Leu194Val
ENST00000683617.1:n.667C>G (GMPPA)
ENST00000683626.1:c.*210C>G (GMPPA)	ENSP00000507216.1:n.*210C>G
ENST00000683691.1:c.*471C>G (GMPPA)	ENSP00000508392.1:n.*471C>G
ENST00000683746.1:n.516C>G (GMPPA)
ENST00000683752.1:c.229C>G (GMPPA)	ENSP00000507197.1:p.Leu77Val
ENST00000683864.1:c.*346C>G (GMPPA)	ENSP00000507147.1:n.*346C>G
ENST00000683946.1:c.580C>G (GMPPA)	ENSP00000506941.1:p.Leu194Val
ENST00000684227.1:c.580C>G (GMPPA)	ENSP00000507190.1:p.Leu194Val
ENST00000684242.1:n.604C>G (GMPPA)
ENST00000684274.1:n.945C>G (GMPPA)
ENST00000684334.1:n.651C>G (GMPPA)
ENST00000684412.1:n.926C>G (GMPPA)
ENST00000684562.1:n.945C>G (GMPPA)
ENST00000684706.1:n.644C>G (GMPPA)
ENST00000684729.1:c.580C>G (GMPPA)	ENSP00000507441.1:p.Leu194Val
ENST00000313597.10:c.580C>G (GMPPA) MANE Select	ENSP00000315925.6:p.Leu194Val
ENST00000313597.9:c.580C>G (GMPPA)	ENSP00000315925.5:p.Leu194Val
ENST00000341142.7:c.580C>G (GMPPA)	ENSP00000340760.3:p.Leu194Val
ENST00000358215.8:c.580C>G (GMPPA)	ENSP00000350949.3:p.Leu194Val
ENST00000373908.5:c.580C>G (GMPPA)	ENSP00000363016.1:p.Leu194Val
ENST00000373917.7:c.580C>G (GMPPA)	ENSP00000363027.3:p.Leu194Val
ENST00000435316.5:c.475C>G (GMPPA)	ENSP00000411060.1:p.Leu159Val
ENST00000443704.5:c.580C>G (GMPPA)	ENSP00000396750.1:p.Leu194Val
ENST00000481170.1:n.2309C>G (GMPPA)
ENST00000622191.1:c.580C>G (GMPPA)	ENSP00000478700.1:p.Leu194Val
ENST00000635609.1:n.490-622C>G (GMPPA)
NM_013335.3:c.580C>G (GMPPA)	NP_037467.2:p.Leu194Val
NM_205847.2:c.580C>G (GMPPA)	NP_995319.1:p.Leu194Val
XM_005246483.2:c.580C>G (GMPPA)	XP_005246540.1:p.Leu194Val
XM_005246485.2:c.580C>G (GMPPA)	XP_005246542.1:p.Leu194Val
XM_005246486.2:c.580C>G (GMPPA)	XP_005246543.1:p.Leu194Val
XM_011511032.1:c.580C>G (GMPPA)	XP_011509334.1:p.Leu194Val
XM_011511033.1:c.205C>G (GMPPA)	XP_011509335.1:p.Leu69Val
XM_011511034.1:c.580C>G (GMPPA)	XP_011509336.1:p.Leu194Val
XM_011511035.1:c.580C>G (GMPPA)	XP_011509337.1:p.Leu194Val
XR_241307.2:n.674C>G (GMPPA)
XR_923921.1:n.352+12523G>C (ASIC4-AS1)
XM_005246486.3:c.580C>G (GMPPA)	XP_005246543.1:p.Leu194Val
XM_024452823.1:c.580C>G (GMPPA)	XP_024308591.1:p.Leu194Val
XR_923921.2:n.391+12523G>C (ASIC4-AS1)
NM_001374294.1:c.580C>G (GMPPA)	NP_001361223.1:p.Leu194Val
NM_001374295.1:c.580C>G (GMPPA)	NP_001361224.1:p.Leu194Val
NM_013335.4:c.580C>G (GMPPA) MANE Select	NP_037467.2:p.Leu194Val
NM_205847.3:c.580C>G (GMPPA)	NP_995319.1:p.Leu194Val