Canonical Allele Identifier: CA511087427

Gene: GNAS

Linked Data

• MyVariant Identifiers: chr20:g.57484836C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.58909781C>A , CM000682.2:g.58909781C>A	GRCh38
NC_000020.10:g.57484836C>A , CM000682.1:g.57484836C>A	GRCh37
NC_000020.9:g.56918231C>A	NCBI36
NG_016194.1:g.75042C>A
NG_016194.2:g.75042C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349036.9:c.2700C>A	ENSP00000265621.6:p.Leu900=
ENST00000419558.7:c.*674C>A	ENSP00000416234.2:n.*674C>A
ENST00000453292.7:c.1415C>A	ENSP00000392000.2:n.1415C>A
ENST00000462499.6:c.597C>A	ENSP00000499758.2:p.Leu199=
ENST00000464624.7:c.*658C>A	ENSP00000499607.2:n.*658C>A
ENST00000464788.6:c.639C>A	ENSP00000499239.2:p.Leu213=
ENST00000467227.6:c.597C>A	ENSP00000499681.2:p.Leu199=
ENST00000467321.6:c.639C>A	ENSP00000499523.2:p.Leu213=
ENST00000468895.6:c.816C>A	ENSP00000499551.2:p.Leu272=
ENST00000469431.6:c.639C>A	ENSP00000499654.2:p.Leu213=
ENST00000470512.6:c.642C>A	ENSP00000499552.2:p.Leu214=
ENST00000472183.6:c.639C>A	ENSP00000499673.2:p.Leu213=
ENST00000475610.2:n.1322C>A
ENST00000476935.6:c.594C>A	ENSP00000499409.2:p.Leu198=
ENST00000478585.6:c.597C>A	ENSP00000499762.2:p.Leu199=
ENST00000480232.6:c.642C>A	ENSP00000499545.2:p.Leu214=
ENST00000481039.6:c.597C>A	ENSP00000499767.2:p.Leu199=
ENST00000482112.6:c.594C>A	ENSP00000499794.2:p.Leu198=
ENST00000485673.6:c.597C>A	ENSP00000499334.2:p.Leu199=
ENST00000488546.6:c.597C>A	ENSP00000499332.2:p.Leu199=
ENST00000488652.6:c.639C>A	ENSP00000499435.2:p.Leu213=
ENST00000492907.6:c.597C>A	ENSP00000499443.2:p.Leu199=
ENST00000603546.2:c.639C>A	ENSP00000474802.2:p.Leu213=
ENST00000604005.6:c.639C>A	ENSP00000474219.2:p.Leu213=
ENST00000663479.2:c.642C>A	ENSP00000499353.2:p.Leu214=
ENST00000667293.2:c.639C>A	ENSP00000499293.2:p.Leu213=
ENST00000676826.2:c.2748C>A	ENSP00000504675.2:p.Leu916=
ENST00000682092.1:n.5100C>A
ENST00000682134.1:n.2742C>A
ENST00000682411.1:n.2911C>A
ENST00000682590.1:n.5003C>A
ENST00000682680.1:n.5017C>A
ENST00000682803.1:c.489C>A	ENSP00000507069.1:p.Leu163=
ENST00000682829.1:n.3144C>A
ENST00000682917.1:n.1344C>A
ENST00000682986.1:n.5233C>A
ENST00000683015.1:c.1586C>A	ENSP00000506815.1:n.1586C>A
ENST00000683632.1:n.5346C>A
ENST00000683932.1:n.6592C>A
ENST00000684284.1:n.3194C>A
ENST00000684466.1:n.1455C>A
ENST00000684644.1:n.5136C>A
ENST00000684761.1:n.1309C>A
ENST00000306090.12:c.720C>A	ENSP00000304472.12:p.Leu240=
ENST00000354359.12:c.819C>A	ENSP00000346328.7:p.Leu273=
ENST00000371085.8:c.816C>A MANE Select	ENSP00000360126.3:p.Leu272=
ENST00000371100.9:c.2745C>A MANE Plus Clinical	ENSP00000360141.3:p.Leu915=
ENST00000656419.1:c.345C>A	ENSP00000499614.1:p.Leu115=
ENST00000657090.1:c.639C>A	ENSP00000499380.1:p.Leu213=
ENST00000667293.1:c.687C>A	ENSP00000499293.1:p.Leu229=
ENST00000265620.11:c.771C>A	ENSP00000265620.7:p.Leu257=
ENST00000306090.11:c.108C>A	ENSP00000304472.11:p.Leu36=
ENST00000313949.11:c.*719C>A	ENSP00000323571.7:n.*719C>A
ENST00000354359.11:c.819C>A	ENSP00000346328.7:p.Leu273=
ENST00000371075.7:c.*722C>A MANE Plus Clinical	ENSP00000360115.3:n.*722C>A
ENST00000371085.7:c.816C>A	ENSP00000360126.3:p.Leu272=
ENST00000371095.7:c.774C>A	ENSP00000360136.3:p.Leu258=
ENST00000371100.8:c.2745C>A	ENSP00000360141.3:p.Leu915=
ENST00000371102.8:c.2703C>A	ENSP00000360143.4:p.Leu901=
ENST00000464624.6:n.3032C>A
ENST00000470512.5:n.890C>A
ENST00000476196.5:n.1109C>A
ENST00000476935.5:n.805C>A
ENST00000477931.5:n.931C>A
ENST00000480232.5:n.835C>A
ENST00000480975.5:n.815C>A
ENST00000481039.5:n.733C>A
ENST00000487862.5:n.1050C>A
ENST00000488546.5:n.675C>A
ENST00000488652.5:n.906C>A
ENST00000492907.5:n.767C>A
ENST00000494081.5:n.371C>A
ENST00000496934.5:n.2105C>A
NM_000516.4:c.816C>A	NP_000507.1:p.Leu272=
NM_000516.5:c.816C>A	NP_000507.1:p.Leu272=
NM_001077488.2:c.819C>A	NP_001070956.1:p.Leu273=
NM_001077488.3:c.819C>A	NP_001070956.1:p.Leu273=
NM_001077489.2:c.771C>A	NP_001070957.1:p.Leu257=
NM_001077489.3:c.771C>A	NP_001070957.1:p.Leu257=
NM_001077490.1:c.*677C>A	NP_001070958.1:n.*677C>A
NM_001077490.2:c.*677C>A	NP_001070958.1:n.*677C>A
NM_001309840.1:c.639C>A	NP_001296769.1:p.Leu213=
NM_001309861.1:c.639C>A	NP_001296790.1:p.Leu213=
NM_016592.2:c.*722C>A	NP_057676.1:n.*722C>A
NM_016592.3:c.*722C>A	NP_057676.1:n.*722C>A
NM_080425.2:c.2745C>A	NP_536350.2:p.Leu915=
NM_080425.3:c.2745C>A	NP_536350.2:p.Leu915=
NM_080426.2:c.774C>A	NP_536351.1:p.Leu258=
NM_080426.3:c.774C>A	NP_536351.1:p.Leu258=
NR_003259.1:c.-4294966390C>A
XM_017027812.2:c.2748C>A	XP_016883301.1:p.Leu916=
XM_017027813.2:c.2703C>A	XP_016883302.1:p.Leu901=
XM_017027814.2:c.2700C>A	XP_016883303.1:p.Leu900=
XM_017027815.1:c.675C>A	XP_016883304.1:p.Leu225=
XM_017027816.1:c.594C>A	XP_016883305.1:p.Leu198=
XM_017027817.1:c.594C>A	XP_016883306.1:p.Leu198=
XM_017027818.2:c.594C>A	XP_016883307.1:p.Leu198=
XM_017027819.1:c.594C>A	XP_016883308.1:p.Leu198=
XM_017027820.1:c.594C>A	XP_016883309.1:p.Leu198=
XM_024451872.1:c.720C>A	XP_024307640.1:p.Leu240=
XM_024451873.1:c.639C>A	XP_024307641.1:p.Leu213=
XM_024451874.1:c.639C>A	XP_024307642.1:p.Leu213=
XM_024451875.1:c.639C>A	XP_024307643.1:p.Leu213=
XR_002958471.1:n.1523C>A
NM_000516.6:c.816C>A	NP_000507.1:p.Leu272=
NM_001077488.4:c.819C>A	NP_001070956.1:p.Leu273=
NM_001077489.4:c.771C>A	NP_001070957.1:p.Leu257=
NM_001309840.2:c.639C>A	NP_001296769.1:p.Leu213=
NM_001309861.2:c.639C>A	NP_001296790.1:p.Leu213=
NM_016592.4:c.*722C>A	NP_057676.1:n.*722C>A
NM_080426.4:c.774C>A	NP_536351.1:p.Leu258=
NM_000516.7:c.816C>A MANE Select	NP_000507.1:p.Leu272=
NM_001077488.5:c.819C>A	NP_001070956.1:p.Leu273=
NM_001077490.3:c.*677C>A	NP_001070958.1:n.*677C>A
NM_016592.5:c.*722C>A MANE Plus Clinical	NP_057676.1:n.*722C>A
NM_080425.4:c.2745C>A MANE Plus Clinical	NP_536350.2:p.Leu915=