Canonical Allele Identifier: CA214672

Gene: GNAS

Linked Data

• ClinVar Variation Id: 15941
• ClinVar RCV Id: RCV000017306 ; RCV000595336 ; RCV001265731 ; RCV001731308
• dbSNP Id: rs137854535
• MyVariant Identifiers: chr20:g.57484792C>T (hg19) ; chr20:g.58909737C>T (hg38)
• PubMed: PMID:9727013 ; PMID:28708303

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.58909737C>T , CM000682.2:g.58909737C>T	GRCh38
NC_000020.10:g.57484792C>T , CM000682.1:g.57484792C>T	GRCh37
NC_000020.9:g.56918187C>T	NCBI36
NG_016194.1:g.74998C>T
NG_016194.2:g.74998C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349036.9:c.2656C>T	ENSP00000265621.6:p.Arg886Trp
ENST00000419558.7:c.*630C>T	ENSP00000416234.2:n.*630C>T
ENST00000453292.7:c.1371C>T	ENSP00000392000.2:n.1371C>T
ENST00000462499.6:c.553C>T	ENSP00000499758.2:p.Arg185Trp
ENST00000464624.7:c.*614C>T	ENSP00000499607.2:n.*614C>T
ENST00000464788.6:c.595C>T	ENSP00000499239.2:p.Arg199Trp
ENST00000467227.6:c.553C>T	ENSP00000499681.2:p.Arg185Trp
ENST00000467321.6:c.595C>T	ENSP00000499523.2:p.Arg199Trp
ENST00000468895.6:c.772C>T	ENSP00000499551.2:p.Arg258Trp
ENST00000469431.6:c.595C>T	ENSP00000499654.2:p.Arg199Trp
ENST00000470512.6:c.598C>T	ENSP00000499552.2:p.Arg200Trp
ENST00000472183.6:c.595C>T	ENSP00000499673.2:p.Arg199Trp
ENST00000475610.2:n.1278C>T
ENST00000476935.6:c.550C>T	ENSP00000499409.2:p.Arg184Trp
ENST00000478585.6:c.553C>T	ENSP00000499762.2:p.Arg185Trp
ENST00000480232.6:c.598C>T	ENSP00000499545.2:p.Arg200Trp
ENST00000481039.6:c.553C>T	ENSP00000499767.2:p.Arg185Trp
ENST00000482112.6:c.550C>T	ENSP00000499794.2:p.Arg184Trp
ENST00000485673.6:c.553C>T	ENSP00000499334.2:p.Arg185Trp
ENST00000488546.6:c.553C>T	ENSP00000499332.2:p.Arg185Trp
ENST00000488652.6:c.595C>T	ENSP00000499435.2:p.Arg199Trp
ENST00000492907.6:c.553C>T	ENSP00000499443.2:p.Arg185Trp
ENST00000603546.2:c.595C>T	ENSP00000474802.2:p.Arg199Trp
ENST00000604005.6:c.595C>T	ENSP00000474219.2:p.Arg199Trp
ENST00000663479.2:c.598C>T	ENSP00000499353.2:p.Arg200Trp
ENST00000667293.2:c.595C>T	ENSP00000499293.2:p.Arg199Trp
ENST00000676826.2:c.2704C>T	ENSP00000504675.2:p.Arg902Trp
ENST00000682092.1:n.5056C>T
ENST00000682134.1:n.2698C>T
ENST00000682411.1:n.2867C>T
ENST00000682590.1:n.4959C>T
ENST00000682680.1:n.4973C>T
ENST00000682803.1:c.445C>T	ENSP00000507069.1:p.Arg149Trp
ENST00000682829.1:n.3100C>T
ENST00000682917.1:n.1300C>T
ENST00000682986.1:n.5189C>T
ENST00000683015.1:c.1542C>T	ENSP00000506815.1:n.1542C>T
ENST00000683632.1:n.5302C>T
ENST00000683932.1:n.6548C>T
ENST00000684284.1:n.3150C>T
ENST00000684466.1:n.1411C>T
ENST00000684644.1:n.5092C>T
ENST00000684761.1:n.1265C>T
ENST00000306090.12:c.676C>T	ENSP00000304472.12:p.Arg226Trp
ENST00000354359.12:c.775C>T	ENSP00000346328.7:p.Arg259Trp
ENST00000371085.8:c.772C>T MANE Select	ENSP00000360126.3:p.Arg258Trp
ENST00000371100.9:c.2701C>T MANE Plus Clinical	ENSP00000360141.3:p.Arg901Trp
ENST00000656419.1:c.301C>T	ENSP00000499614.1:p.Arg101Trp
ENST00000657090.1:c.595C>T	ENSP00000499380.1:p.Arg199Trp
ENST00000667293.1:c.643C>T	ENSP00000499293.1:p.Arg215Trp
ENST00000265620.11:c.727C>T	ENSP00000265620.7:p.Arg243Trp
ENST00000306090.11:c.94-30C>T	ENSP00000304472.11:n.94-30C>T
ENST00000313949.11:c.*675C>T	ENSP00000323571.7:n.*675C>T
ENST00000354359.11:c.775C>T	ENSP00000346328.7:p.Arg259Trp
ENST00000371075.7:c.*678C>T MANE Plus Clinical	ENSP00000360115.3:n.*678C>T
ENST00000371085.7:c.772C>T	ENSP00000360126.3:p.Arg258Trp
ENST00000371095.7:c.730C>T	ENSP00000360136.3:p.Arg244Trp
ENST00000371100.8:c.2701C>T	ENSP00000360141.3:p.Arg901Trp
ENST00000371102.8:c.2659C>T	ENSP00000360143.4:p.Arg887Trp
ENST00000464624.6:n.2988C>T
ENST00000470512.5:n.846C>T
ENST00000476196.5:n.1065C>T
ENST00000476935.5:n.761C>T
ENST00000477931.5:n.887C>T
ENST00000480232.5:n.791C>T
ENST00000480975.5:n.771C>T
ENST00000481039.5:n.689C>T
ENST00000487862.5:n.1006C>T
ENST00000488546.5:n.631C>T
ENST00000488652.5:n.862C>T
ENST00000492907.5:n.723C>T
ENST00000493958.5:n.495C>T
ENST00000494081.5:n.327C>T
ENST00000496934.5:n.2061C>T
NM_000516.4:c.772C>T	NP_000507.1:p.Arg258Trp
NM_000516.5:c.772C>T	NP_000507.1:p.Arg258Trp
NM_001077488.2:c.775C>T	NP_001070956.1:p.Arg259Trp
NM_001077488.3:c.775C>T	NP_001070956.1:p.Arg259Trp
NM_001077489.2:c.727C>T	NP_001070957.1:p.Arg243Trp
NM_001077489.3:c.727C>T	NP_001070957.1:p.Arg243Trp
NM_001077490.1:c.*633C>T	NP_001070958.1:n.*633C>T
NM_001077490.2:c.*633C>T	NP_001070958.1:n.*633C>T
NM_001309840.1:c.595C>T	NP_001296769.1:p.Arg199Trp
NM_001309861.1:c.595C>T	NP_001296790.1:p.Arg199Trp
NM_016592.2:c.*678C>T	NP_057676.1:n.*678C>T
NM_016592.3:c.*678C>T	NP_057676.1:n.*678C>T
NM_080425.2:c.2701C>T	NP_536350.2:p.Arg901Trp
NM_080425.3:c.2701C>T	NP_536350.2:p.Arg901Trp
NM_080426.2:c.730C>T	NP_536351.1:p.Arg244Trp
NM_080426.3:c.730C>T	NP_536351.1:p.Arg244Trp
NR_003259.1:c.-4294966434C>T
XM_017027812.2:c.2704C>T	XP_016883301.1:p.Arg902Trp
XM_017027813.2:c.2659C>T	XP_016883302.1:p.Arg887Trp
XM_017027814.2:c.2656C>T	XP_016883303.1:p.Arg886Trp
XM_017027815.1:c.631C>T	XP_016883304.1:p.Arg211Trp
XM_017027816.1:c.550C>T	XP_016883305.1:p.Arg184Trp
XM_017027817.1:c.550C>T	XP_016883306.1:p.Arg184Trp
XM_017027818.2:c.550C>T	XP_016883307.1:p.Arg184Trp
XM_017027819.1:c.550C>T	XP_016883308.1:p.Arg184Trp
XM_017027820.1:c.550C>T	XP_016883309.1:p.Arg184Trp
XM_024451872.1:c.676C>T	XP_024307640.1:p.Arg226Trp
XM_024451873.1:c.595C>T	XP_024307641.1:p.Arg199Trp
XM_024451874.1:c.595C>T	XP_024307642.1:p.Arg199Trp
XM_024451875.1:c.595C>T	XP_024307643.1:p.Arg199Trp
XR_002958471.1:n.1479C>T
NM_000516.6:c.772C>T	NP_000507.1:p.Arg258Trp
NM_001077488.4:c.775C>T	NP_001070956.1:p.Arg259Trp
NM_001077489.4:c.727C>T	NP_001070957.1:p.Arg243Trp
NM_001309840.2:c.595C>T	NP_001296769.1:p.Arg199Trp
NM_001309861.2:c.595C>T	NP_001296790.1:p.Arg199Trp
NM_016592.4:c.*678C>T	NP_057676.1:n.*678C>T
NM_080426.4:c.730C>T	NP_536351.1:p.Arg244Trp
NM_000516.7:c.772C>T MANE Select	NP_000507.1:p.Arg258Trp
NM_001077488.5:c.775C>T	NP_001070956.1:p.Arg259Trp
NM_001077490.3:c.*633C>T	NP_001070958.1:n.*633C>T
NM_016592.5:c.*678C>T MANE Plus Clinical	NP_057676.1:n.*678C>T
NM_080425.4:c.2701C>T MANE Plus Clinical	NP_536350.2:p.Arg901Trp