Canonical Allele Identifier: CA409452679

Gene: GNAS

Linked Data

• MyVariant Identifiers: chr20:g.57484817T>G (hg19) ; chr20:g.58909762T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.58909762T>G , CM000682.2:g.58909762T>G	GRCh38
NC_000020.10:g.57484817T>G , CM000682.1:g.57484817T>G	GRCh37
NC_000020.9:g.56918212T>G	NCBI36
NG_016194.1:g.75023T>G
NG_016194.2:g.75023T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349036.9:c.2681T>G	ENSP00000265621.6:p.Leu894Arg
ENST00000419558.7:c.*655T>G	ENSP00000416234.2:n.*655T>G
ENST00000453292.7:c.1396T>G	ENSP00000392000.2:n.1396T>G
ENST00000462499.6:c.578T>G	ENSP00000499758.2:p.Leu193Arg
ENST00000464624.7:c.*639T>G	ENSP00000499607.2:n.*639T>G
ENST00000464788.6:c.620T>G	ENSP00000499239.2:p.Leu207Arg
ENST00000467227.6:c.578T>G	ENSP00000499681.2:p.Leu193Arg
ENST00000467321.6:c.620T>G	ENSP00000499523.2:p.Leu207Arg
ENST00000468895.6:c.797T>G	ENSP00000499551.2:p.Leu266Arg
ENST00000469431.6:c.620T>G	ENSP00000499654.2:p.Leu207Arg
ENST00000470512.6:c.623T>G	ENSP00000499552.2:p.Leu208Arg
ENST00000472183.6:c.620T>G	ENSP00000499673.2:p.Leu207Arg
ENST00000475610.2:n.1303T>G
ENST00000476935.6:c.575T>G	ENSP00000499409.2:p.Leu192Arg
ENST00000478585.6:c.578T>G	ENSP00000499762.2:p.Leu193Arg
ENST00000480232.6:c.623T>G	ENSP00000499545.2:p.Leu208Arg
ENST00000481039.6:c.578T>G	ENSP00000499767.2:p.Leu193Arg
ENST00000482112.6:c.575T>G	ENSP00000499794.2:p.Leu192Arg
ENST00000485673.6:c.578T>G	ENSP00000499334.2:p.Leu193Arg
ENST00000488546.6:c.578T>G	ENSP00000499332.2:p.Leu193Arg
ENST00000488652.6:c.620T>G	ENSP00000499435.2:p.Leu207Arg
ENST00000492907.6:c.578T>G	ENSP00000499443.2:p.Leu193Arg
ENST00000603546.2:c.620T>G	ENSP00000474802.2:p.Leu207Arg
ENST00000604005.6:c.620T>G	ENSP00000474219.2:p.Leu207Arg
ENST00000663479.2:c.623T>G	ENSP00000499353.2:p.Leu208Arg
ENST00000667293.2:c.620T>G	ENSP00000499293.2:p.Leu207Arg
ENST00000676826.2:c.2729T>G	ENSP00000504675.2:p.Leu910Arg
ENST00000682092.1:n.5081T>G
ENST00000682134.1:n.2723T>G
ENST00000682411.1:n.2892T>G
ENST00000682590.1:n.4984T>G
ENST00000682680.1:n.4998T>G
ENST00000682803.1:c.470T>G	ENSP00000507069.1:p.Leu157Arg
ENST00000682829.1:n.3125T>G
ENST00000682917.1:n.1325T>G
ENST00000682986.1:n.5214T>G
ENST00000683015.1:c.1567T>G	ENSP00000506815.1:n.1567T>G
ENST00000683632.1:n.5327T>G
ENST00000683932.1:n.6573T>G
ENST00000684284.1:n.3175T>G
ENST00000684466.1:n.1436T>G
ENST00000684644.1:n.5117T>G
ENST00000684761.1:n.1290T>G
ENST00000306090.12:c.701T>G	ENSP00000304472.12:p.Leu234Arg
ENST00000354359.12:c.800T>G	ENSP00000346328.7:p.Leu267Arg
ENST00000371085.8:c.797T>G MANE Select	ENSP00000360126.3:p.Leu266Arg
ENST00000371100.9:c.2726T>G MANE Plus Clinical	ENSP00000360141.3:p.Leu909Arg
ENST00000656419.1:c.326T>G	ENSP00000499614.1:p.Leu109Arg
ENST00000657090.1:c.620T>G	ENSP00000499380.1:p.Leu207Arg
ENST00000667293.1:c.668T>G	ENSP00000499293.1:p.Leu223Arg
ENST00000265620.11:c.752T>G	ENSP00000265620.7:p.Leu251Arg
ENST00000306090.11:c.94-5T>G	ENSP00000304472.11:n.94-5T>G
ENST00000313949.11:c.*700T>G	ENSP00000323571.7:n.*700T>G
ENST00000354359.11:c.800T>G	ENSP00000346328.7:p.Leu267Arg
ENST00000371075.7:c.*703T>G MANE Plus Clinical	ENSP00000360115.3:n.*703T>G
ENST00000371085.7:c.797T>G	ENSP00000360126.3:p.Leu266Arg
ENST00000371095.7:c.755T>G	ENSP00000360136.3:p.Leu252Arg
ENST00000371100.8:c.2726T>G	ENSP00000360141.3:p.Leu909Arg
ENST00000371102.8:c.2684T>G	ENSP00000360143.4:p.Leu895Arg
ENST00000464624.6:n.3013T>G
ENST00000470512.5:n.871T>G
ENST00000476196.5:n.1090T>G
ENST00000476935.5:n.786T>G
ENST00000477931.5:n.912T>G
ENST00000480232.5:n.816T>G
ENST00000480975.5:n.796T>G
ENST00000481039.5:n.714T>G
ENST00000487862.5:n.1031T>G
ENST00000488546.5:n.656T>G
ENST00000488652.5:n.887T>G
ENST00000492907.5:n.748T>G
ENST00000493958.5:n.520T>G
ENST00000494081.5:n.352T>G
ENST00000496934.5:n.2086T>G
NM_000516.4:c.797T>G	NP_000507.1:p.Leu266Arg
NM_000516.5:c.797T>G	NP_000507.1:p.Leu266Arg
NM_001077488.2:c.800T>G	NP_001070956.1:p.Leu267Arg
NM_001077488.3:c.800T>G	NP_001070956.1:p.Leu267Arg
NM_001077489.2:c.752T>G	NP_001070957.1:p.Leu251Arg
NM_001077489.3:c.752T>G	NP_001070957.1:p.Leu251Arg
NM_001077490.1:c.*658T>G	NP_001070958.1:n.*658T>G
NM_001077490.2:c.*658T>G	NP_001070958.1:n.*658T>G
NM_001309840.1:c.620T>G	NP_001296769.1:p.Leu207Arg
NM_001309861.1:c.620T>G	NP_001296790.1:p.Leu207Arg
NM_016592.2:c.*703T>G	NP_057676.1:n.*703T>G
NM_016592.3:c.*703T>G	NP_057676.1:n.*703T>G
NM_080425.2:c.2726T>G	NP_536350.2:p.Leu909Arg
NM_080425.3:c.2726T>G	NP_536350.2:p.Leu909Arg
NM_080426.2:c.755T>G	NP_536351.1:p.Leu252Arg
NM_080426.3:c.755T>G	NP_536351.1:p.Leu252Arg
NR_003259.1:c.-4294966409T>G
XM_017027812.2:c.2729T>G	XP_016883301.1:p.Leu910Arg
XM_017027813.2:c.2684T>G	XP_016883302.1:p.Leu895Arg
XM_017027814.2:c.2681T>G	XP_016883303.1:p.Leu894Arg
XM_017027815.1:c.656T>G	XP_016883304.1:p.Leu219Arg
XM_017027816.1:c.575T>G	XP_016883305.1:p.Leu192Arg
XM_017027817.1:c.575T>G	XP_016883306.1:p.Leu192Arg
XM_017027818.2:c.575T>G	XP_016883307.1:p.Leu192Arg
XM_017027819.1:c.575T>G	XP_016883308.1:p.Leu192Arg
XM_017027820.1:c.575T>G	XP_016883309.1:p.Leu192Arg
XM_024451872.1:c.701T>G	XP_024307640.1:p.Leu234Arg
XM_024451873.1:c.620T>G	XP_024307641.1:p.Leu207Arg
XM_024451874.1:c.620T>G	XP_024307642.1:p.Leu207Arg
XM_024451875.1:c.620T>G	XP_024307643.1:p.Leu207Arg
XR_002958471.1:n.1504T>G
NM_000516.6:c.797T>G	NP_000507.1:p.Leu266Arg
NM_001077488.4:c.800T>G	NP_001070956.1:p.Leu267Arg
NM_001077489.4:c.752T>G	NP_001070957.1:p.Leu251Arg
NM_001309840.2:c.620T>G	NP_001296769.1:p.Leu207Arg
NM_001309861.2:c.620T>G	NP_001296790.1:p.Leu207Arg
NM_016592.4:c.*703T>G	NP_057676.1:n.*703T>G
NM_080426.4:c.755T>G	NP_536351.1:p.Leu252Arg
NM_000516.7:c.797T>G MANE Select	NP_000507.1:p.Leu266Arg
NM_001077488.5:c.800T>G	NP_001070956.1:p.Leu267Arg
NM_001077490.3:c.*658T>G	NP_001070958.1:n.*658T>G
NM_016592.5:c.*703T>G MANE Plus Clinical	NP_057676.1:n.*703T>G
NM_080425.4:c.2726T>G MANE Plus Clinical	NP_536350.2:p.Leu909Arg