Canonical Allele Identifier: CA409452462

Gene: GNAS

Linked Data

• MyVariant Identifiers: chr20:g.57484759G>T (hg19) ; chr20:g.58909704G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.58909704G>T , CM000682.2:g.58909704G>T	GRCh38
NC_000020.10:g.57484759G>T , CM000682.1:g.57484759G>T	GRCh37
NC_000020.9:g.56918154G>T	NCBI36
NG_016194.1:g.74965G>T
NG_016194.2:g.74965G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349036.9:c.2623G>T	ENSP00000265621.6:p.Val875Leu
ENST00000419558.7:c.*597G>T	ENSP00000416234.2:n.*597G>T
ENST00000453292.7:c.1338G>T	ENSP00000392000.2:n.1338G>T
ENST00000462499.6:c.520G>T	ENSP00000499758.2:p.Val174Leu
ENST00000464624.7:c.*581G>T	ENSP00000499607.2:n.*581G>T
ENST00000464788.6:c.562G>T	ENSP00000499239.2:p.Val188Leu
ENST00000467227.6:c.520G>T	ENSP00000499681.2:p.Val174Leu
ENST00000467321.6:c.562G>T	ENSP00000499523.2:p.Val188Leu
ENST00000468895.6:c.739G>T	ENSP00000499551.2:p.Val247Leu
ENST00000469431.6:c.562G>T	ENSP00000499654.2:p.Val188Leu
ENST00000470512.6:c.565G>T	ENSP00000499552.2:p.Val189Leu
ENST00000472183.6:c.562G>T	ENSP00000499673.2:p.Val188Leu
ENST00000475610.2:n.1245G>T
ENST00000476935.6:c.517G>T	ENSP00000499409.2:p.Val173Leu
ENST00000478585.6:c.520G>T	ENSP00000499762.2:p.Val174Leu
ENST00000480232.6:c.565G>T	ENSP00000499545.2:p.Val189Leu
ENST00000481039.6:c.520G>T	ENSP00000499767.2:p.Val174Leu
ENST00000482112.6:c.517G>T	ENSP00000499794.2:p.Val173Leu
ENST00000485673.6:c.520G>T	ENSP00000499334.2:p.Val174Leu
ENST00000488546.6:c.520G>T	ENSP00000499332.2:p.Val174Leu
ENST00000488652.6:c.562G>T	ENSP00000499435.2:p.Val188Leu
ENST00000492907.6:c.520G>T	ENSP00000499443.2:p.Val174Leu
ENST00000603546.2:c.562G>T	ENSP00000474802.2:p.Val188Leu
ENST00000604005.6:c.562G>T	ENSP00000474219.2:p.Val188Leu
ENST00000663479.2:c.565G>T	ENSP00000499353.2:p.Val189Leu
ENST00000667293.2:c.562G>T	ENSP00000499293.2:p.Val188Leu
ENST00000676826.2:c.2671G>T	ENSP00000504675.2:p.Val891Leu
ENST00000682092.1:n.5023G>T
ENST00000682134.1:n.2665G>T
ENST00000682411.1:n.2834G>T
ENST00000682590.1:n.4926G>T
ENST00000682680.1:n.4940G>T
ENST00000682803.1:c.412G>T	ENSP00000507069.1:p.Val138Leu
ENST00000682829.1:n.3067G>T
ENST00000682917.1:n.1267G>T
ENST00000682986.1:n.5156G>T
ENST00000683015.1:c.1509G>T	ENSP00000506815.1:n.1509G>T
ENST00000683632.1:n.5269G>T
ENST00000683932.1:n.6515G>T
ENST00000684284.1:n.3117G>T
ENST00000684466.1:n.1378G>T
ENST00000684644.1:n.5059G>T
ENST00000684761.1:n.1232G>T
ENST00000306090.12:c.643G>T	ENSP00000304472.12:p.Val215Leu
ENST00000354359.12:c.742G>T	ENSP00000346328.7:p.Val248Leu
ENST00000371085.8:c.739G>T MANE Select	ENSP00000360126.3:p.Val247Leu
ENST00000371100.9:c.2668G>T MANE Plus Clinical	ENSP00000360141.3:p.Val890Leu
ENST00000656419.1:c.268G>T	ENSP00000499614.1:p.Val90Leu
ENST00000657090.1:c.562G>T	ENSP00000499380.1:p.Val188Leu
ENST00000667293.1:c.610G>T	ENSP00000499293.1:p.Val204Leu
ENST00000265620.11:c.694G>T	ENSP00000265620.7:p.Val232Leu
ENST00000306090.11:c.94-63G>T	ENSP00000304472.11:n.94-63G>T
ENST00000313949.11:c.*642G>T	ENSP00000323571.7:n.*642G>T
ENST00000354359.11:c.742G>T	ENSP00000346328.7:p.Val248Leu
ENST00000371075.7:c.*645G>T MANE Plus Clinical	ENSP00000360115.3:n.*645G>T
ENST00000371085.7:c.739G>T	ENSP00000360126.3:p.Val247Leu
ENST00000371095.7:c.697G>T	ENSP00000360136.3:p.Val233Leu
ENST00000371100.8:c.2668G>T	ENSP00000360141.3:p.Val890Leu
ENST00000371102.8:c.2626G>T	ENSP00000360143.4:p.Val876Leu
ENST00000464624.6:n.2955G>T
ENST00000470512.5:n.813G>T
ENST00000476196.5:n.1032G>T
ENST00000476935.5:n.728G>T
ENST00000477931.5:n.854G>T
ENST00000479025.1:n.455G>T
ENST00000480232.5:n.758G>T
ENST00000480975.5:n.738G>T
ENST00000481039.5:n.656G>T
ENST00000487862.5:n.973G>T
ENST00000487981.5:n.573G>T
ENST00000488546.5:n.598G>T
ENST00000488652.5:n.829G>T
ENST00000492907.5:n.690G>T
ENST00000493958.5:n.462G>T
ENST00000494081.5:n.294G>T
ENST00000496934.5:n.2028G>T
NM_000516.4:c.739G>T	NP_000507.1:p.Val247Leu
NM_000516.5:c.739G>T	NP_000507.1:p.Val247Leu
NM_001077488.2:c.742G>T	NP_001070956.1:p.Val248Leu
NM_001077488.3:c.742G>T	NP_001070956.1:p.Val248Leu
NM_001077489.2:c.694G>T	NP_001070957.1:p.Val232Leu
NM_001077489.3:c.694G>T	NP_001070957.1:p.Val232Leu
NM_001077490.1:c.*600G>T	NP_001070958.1:n.*600G>T
NM_001077490.2:c.*600G>T	NP_001070958.1:n.*600G>T
NM_001309840.1:c.562G>T	NP_001296769.1:p.Val188Leu
NM_001309861.1:c.562G>T	NP_001296790.1:p.Val188Leu
NM_016592.2:c.*645G>T	NP_057676.1:n.*645G>T
NM_016592.3:c.*645G>T	NP_057676.1:n.*645G>T
NM_080425.2:c.2668G>T	NP_536350.2:p.Val890Leu
NM_080425.3:c.2668G>T	NP_536350.2:p.Val890Leu
NM_080426.2:c.697G>T	NP_536351.1:p.Val233Leu
NM_080426.3:c.697G>T	NP_536351.1:p.Val233Leu
NR_003259.1:c.-4294966467G>T
XM_017027812.2:c.2671G>T	XP_016883301.1:p.Val891Leu
XM_017027813.2:c.2626G>T	XP_016883302.1:p.Val876Leu
XM_017027814.2:c.2623G>T	XP_016883303.1:p.Val875Leu
XM_017027815.1:c.598G>T	XP_016883304.1:p.Val200Leu
XM_017027816.1:c.517G>T	XP_016883305.1:p.Val173Leu
XM_017027817.1:c.517G>T	XP_016883306.1:p.Val173Leu
XM_017027818.2:c.517G>T	XP_016883307.1:p.Val173Leu
XM_017027819.1:c.517G>T	XP_016883308.1:p.Val173Leu
XM_017027820.1:c.517G>T	XP_016883309.1:p.Val173Leu
XM_024451872.1:c.643G>T	XP_024307640.1:p.Val215Leu
XM_024451873.1:c.562G>T	XP_024307641.1:p.Val188Leu
XM_024451874.1:c.562G>T	XP_024307642.1:p.Val188Leu
XM_024451875.1:c.562G>T	XP_024307643.1:p.Val188Leu
XR_002958471.1:n.1446G>T
NM_000516.6:c.739G>T	NP_000507.1:p.Val247Leu
NM_001077488.4:c.742G>T	NP_001070956.1:p.Val248Leu
NM_001077489.4:c.694G>T	NP_001070957.1:p.Val232Leu
NM_001309840.2:c.562G>T	NP_001296769.1:p.Val188Leu
NM_001309861.2:c.562G>T	NP_001296790.1:p.Val188Leu
NM_016592.4:c.*645G>T	NP_057676.1:n.*645G>T
NM_080426.4:c.697G>T	NP_536351.1:p.Val233Leu
NM_000516.7:c.739G>T MANE Select	NP_000507.1:p.Val247Leu
NM_001077488.5:c.742G>T	NP_001070956.1:p.Val248Leu
NM_001077490.3:c.*600G>T	NP_001070958.1:n.*600G>T
NM_016592.5:c.*645G>T MANE Plus Clinical	NP_057676.1:n.*645G>T
NM_080425.4:c.2668G>T MANE Plus Clinical	NP_536350.2:p.Val890Leu