Canonical Allele Identifier: CA126062

Gene: GNAS

Linked Data

• ClinVar Variation Id: 15932
• ClinVar RCV Id: RCV000017286 ; RCV001729350 ; RCV002288507 ; RCV002054444
• dbSNP Id: rs137854532
• gnomAD v4: 20-58905443-C-T
• COSMIC: COSM725029 ; COSM725030
• MyVariant Identifiers: chr20:g.57480498C>T (hg19) ; chr20:g.58905443C>T (hg38)
• PubMed: PMID:25802881 ; PMID:29072892

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.58905443C>T , CM000682.2:g.58905443C>T	GRCh38
NC_000020.10:g.57480498C>T , CM000682.1:g.57480498C>T	GRCh37
NC_000020.9:g.56913893C>T	NCBI36
NG_016194.1:g.70704C>T
NG_016194.2:g.70704C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349036.9:c.2377C>T	ENSP00000265621.6:p.Arg793Cys
ENST00000419558.7:c.*351C>T	ENSP00000416234.2:n.*351C>T
ENST00000453292.7:c.1092C>T	ENSP00000392000.2:n.1092C>T
ENST00000462499.6:c.274C>T	ENSP00000499758.2:p.Arg92Cys
ENST00000464624.7:c.*335C>T	ENSP00000499607.2:n.*335C>T
ENST00000464788.6:c.316C>T	ENSP00000499239.2:p.Arg106Cys
ENST00000467227.6:c.274C>T	ENSP00000499681.2:p.Arg92Cys
ENST00000467321.6:c.316C>T	ENSP00000499523.2:p.Arg106Cys
ENST00000468895.6:c.493C>T	ENSP00000499551.2:p.Arg165Cys
ENST00000469431.6:c.316C>T	ENSP00000499654.2:p.Arg106Cys
ENST00000470512.6:c.319C>T	ENSP00000499552.2:p.Arg107Cys
ENST00000472183.6:c.316C>T	ENSP00000499673.2:p.Arg106Cys
ENST00000475610.2:n.999C>T
ENST00000476935.6:c.271C>T	ENSP00000499409.2:p.Arg91Cys
ENST00000478585.6:c.274C>T	ENSP00000499762.2:p.Arg92Cys
ENST00000480232.6:c.319C>T	ENSP00000499545.2:p.Arg107Cys
ENST00000481039.6:c.274C>T	ENSP00000499767.2:p.Arg92Cys
ENST00000482112.6:c.271C>T	ENSP00000499794.2:p.Arg91Cys
ENST00000485673.6:c.274C>T	ENSP00000499334.2:p.Arg92Cys
ENST00000488546.6:c.274C>T	ENSP00000499332.2:p.Arg92Cys
ENST00000488652.6:c.316C>T	ENSP00000499435.2:p.Arg106Cys
ENST00000492907.6:c.274C>T	ENSP00000499443.2:p.Arg92Cys
ENST00000603546.2:c.316C>T	ENSP00000474802.2:p.Arg106Cys
ENST00000604005.6:c.316C>T	ENSP00000474219.2:p.Arg106Cys
ENST00000663479.2:c.319C>T	ENSP00000499353.2:p.Arg107Cys
ENST00000667293.2:c.316C>T	ENSP00000499293.2:p.Arg106Cys
ENST00000676826.2:c.2425C>T	ENSP00000504675.2:p.Arg809Cys
ENST00000682092.1:n.999C>T
ENST00000682134.1:n.2419C>T
ENST00000682411.1:n.2588C>T
ENST00000682590.1:n.999C>T
ENST00000682680.1:n.1013C>T
ENST00000682803.1:c.166C>T	ENSP00000507069.1:p.Arg56Cys
ENST00000682829.1:n.2821C>T
ENST00000682917.1:n.1021C>T
ENST00000682986.1:n.999C>T
ENST00000683015.1:c.1263C>T	ENSP00000506815.1:n.1263C>T
ENST00000683632.1:n.1008C>T
ENST00000683932.1:n.2588C>T
ENST00000684284.1:n.2871C>T
ENST00000684466.1:n.999C>T
ENST00000684644.1:n.999C>T
ENST00000684761.1:n.999C>T
ENST00000306090.12:c.397C>T	ENSP00000304472.12:p.Arg133Cys
ENST00000349036.8:c.2377C>T	ENSP00000265621.5:p.Arg793Cys
ENST00000354359.12:c.496C>T	ENSP00000346328.7:p.Arg166Cys
ENST00000371085.8:c.493C>T MANE Select	ENSP00000360126.3:p.Arg165Cys
ENST00000371100.9:c.2422C>T MANE Plus Clinical	ENSP00000360141.3:p.Arg808Cys
ENST00000419558.6:c.*351C>T	ENSP00000416234.2:n.*351C>T
ENST00000490374.6:n.658C>T
ENST00000657090.1:c.316C>T	ENSP00000499380.1:p.Arg106Cys
ENST00000663479.1:c.319C>T	ENSP00000499353.1:p.Arg107Cys
ENST00000667293.1:c.364C>T	ENSP00000499293.1:p.Arg122Cys
ENST00000676826.1:c.2425C>T	ENSP00000504675.1:p.Arg809Cys
ENST00000265620.11:c.448C>T	ENSP00000265620.7:p.Arg150Cys
ENST00000306090.11:c.94-4324C>T	ENSP00000304472.11:n.94-4324C>T
ENST00000313949.11:c.*396C>T	ENSP00000323571.7:n.*396C>T
ENST00000349036.7:c.544C>T	ENSP00000265621.4:p.Arg182Cys
ENST00000354359.11:c.496C>T	ENSP00000346328.7:p.Arg166Cys
ENST00000371075.7:c.*399C>T MANE Plus Clinical	ENSP00000360115.3:n.*399C>T
ENST00000371085.7:c.493C>T	ENSP00000360126.3:p.Arg165Cys
ENST00000371095.7:c.451C>T	ENSP00000360136.3:p.Arg151Cys
ENST00000371100.8:c.2422C>T	ENSP00000360141.3:p.Arg808Cys
ENST00000371102.8:c.2380C>T	ENSP00000360143.4:p.Arg794Cys
ENST00000419558.5:c.692C>T
ENST00000450130.5:c.536C>T
ENST00000464624.6:n.2709C>T
ENST00000464788.5:n.421C>T
ENST00000467227.5:n.434C>T
ENST00000467321.5:n.508C>T
ENST00000468895.5:n.362C>T
ENST00000469431.5:n.610C>T
ENST00000470512.5:n.567C>T
ENST00000472183.5:n.745C>T
ENST00000476196.5:n.786C>T
ENST00000476935.5:n.482C>T
ENST00000477931.5:n.608C>T
ENST00000478585.5:n.506C>T
ENST00000480232.5:n.512C>T
ENST00000480975.5:n.492C>T
ENST00000481039.5:n.410C>T
ENST00000482112.5:n.567C>T
ENST00000487862.5:n.727C>T
ENST00000487981.5:n.230C>T
ENST00000488546.5:n.352C>T
ENST00000488652.5:n.583C>T
ENST00000490374.5:n.611C>T
ENST00000492907.5:n.444C>T
ENST00000493958.5:n.112C>T
ENST00000494081.5:n.236C>T
ENST00000496934.5:n.1782C>T
ENST00000603546.1:c.316C>T	ENSP00000474802.1:p.Arg106Cys
ENST00000604005.5:c.316C>T	ENSP00000474219.1:p.Arg106Cys
NM_000516.4:c.493C>T	NP_000507.1:p.Arg165Cys
NM_000516.5:c.493C>T	NP_000507.1:p.Arg165Cys
NM_001077488.2:c.496C>T	NP_001070956.1:p.Arg166Cys
NM_001077488.3:c.496C>T	NP_001070956.1:p.Arg166Cys
NM_001077489.2:c.448C>T	NP_001070957.1:p.Arg150Cys
NM_001077489.3:c.448C>T	NP_001070957.1:p.Arg150Cys
NM_001077490.1:c.*354C>T	NP_001070958.1:n.*354C>T
NM_001077490.2:c.*354C>T	NP_001070958.1:n.*354C>T
NM_001309840.1:c.316C>T	NP_001296769.1:p.Arg106Cys
NM_001309861.1:c.316C>T	NP_001296790.1:p.Arg106Cys
NM_016592.2:c.*399C>T	NP_057676.1:n.*399C>T
NM_016592.3:c.*399C>T	NP_057676.1:n.*399C>T
NM_080425.2:c.2422C>T	NP_536350.2:p.Arg808Cys
NM_080425.3:c.2422C>T	NP_536350.2:p.Arg808Cys
NM_080426.2:c.451C>T	NP_536351.1:p.Arg151Cys
NM_080426.3:c.451C>T	NP_536351.1:p.Arg151Cys
NR_003259.1:c.-4294966713C>T
XM_017027812.2:c.2425C>T	XP_016883301.1:p.Arg809Cys
XM_017027813.2:c.2380C>T	XP_016883302.1:p.Arg794Cys
XM_017027814.2:c.2377C>T	XP_016883303.1:p.Arg793Cys
XM_017027815.1:c.352C>T	XP_016883304.1:p.Arg118Cys
XM_017027816.1:c.271C>T	XP_016883305.1:p.Arg91Cys
XM_017027817.1:c.271C>T	XP_016883306.1:p.Arg91Cys
XM_017027818.2:c.271C>T	XP_016883307.1:p.Arg91Cys
XM_017027819.1:c.271C>T	XP_016883308.1:p.Arg91Cys
XM_017027820.1:c.271C>T	XP_016883309.1:p.Arg91Cys
XM_017027821.1:c.*396C>T	XP_016883310.1:n.*396C>T
XM_024451872.1:c.397C>T	XP_024307640.1:p.Arg133Cys
XM_024451873.1:c.316C>T	XP_024307641.1:p.Arg106Cys
XM_024451874.1:c.316C>T	XP_024307642.1:p.Arg106Cys
XM_024451875.1:c.316C>T	XP_024307643.1:p.Arg106Cys
XR_002958471.1:n.1200C>T
NM_000516.6:c.493C>T	NP_000507.1:p.Arg165Cys
NM_001077488.4:c.496C>T	NP_001070956.1:p.Arg166Cys
NM_001077489.4:c.448C>T	NP_001070957.1:p.Arg150Cys
NM_001309840.2:c.316C>T	NP_001296769.1:p.Arg106Cys
NM_001309861.2:c.316C>T	NP_001296790.1:p.Arg106Cys
NM_016592.4:c.*399C>T	NP_057676.1:n.*399C>T
NM_080426.4:c.451C>T	NP_536351.1:p.Arg151Cys
NM_000516.7:c.493C>T MANE Select	NP_000507.1:p.Arg165Cys
NM_001077488.5:c.496C>T	NP_001070956.1:p.Arg166Cys
NM_001077490.3:c.*354C>T	NP_001070958.1:n.*354C>T
NM_016592.5:c.*399C>T MANE Plus Clinical	NP_057676.1:n.*399C>T
NM_080425.4:c.2422C>T MANE Plus Clinical	NP_536350.2:p.Arg808Cys