Canonical Allele Identifier: CA128615

Gene: GNAS

Linked Data

• ClinVar Variation Id: 29747
• ClinVar RCV Id: RCV000022599 ; RCV000174485
• dbSNP Id: rs397514456
• COSMIC: COSM296229 ; COSM296230
• MyVariant Identifiers: chr20:g.57485873G>A (hg19) ; chr20:g.58910818G>A (hg38)
• PubMed: PMID:21488135

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.58910818G>A , CM000682.2:g.58910818G>A	GRCh38
NC_000020.10:g.57485873G>A , CM000682.1:g.57485873G>A	GRCh37
NC_000020.9:g.56919268G>A	NCBI36
NG_016194.1:g.76079G>A
NG_016194.2:g.76079G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349036.9:c.3058G>A	ENSP00000265621.6:p.Glu1020Lys
ENST00000419558.7:c.*1032G>A	ENSP00000416234.2:n.*1032G>A
ENST00000453292.7:c.1773G>A	ENSP00000392000.2:n.1773G>A
ENST00000462499.6:c.955G>A	ENSP00000499758.2:p.Glu319Lys
ENST00000464624.7:c.*1016G>A	ENSP00000499607.2:n.*1016G>A
ENST00000464788.6:c.997G>A	ENSP00000499239.2:p.Glu333Lys
ENST00000467227.6:c.955G>A	ENSP00000499681.2:p.Glu319Lys
ENST00000467321.6:c.997G>A	ENSP00000499523.2:p.Glu333Lys
ENST00000468895.6:c.*65G>A	ENSP00000499551.2:n.*65G>A
ENST00000469431.6:c.997G>A	ENSP00000499654.2:p.Glu333Lys
ENST00000470512.6:c.1000G>A	ENSP00000499552.2:p.Glu334Lys
ENST00000472183.6:c.997G>A	ENSP00000499673.2:p.Glu333Lys
ENST00000476935.6:c.952G>A	ENSP00000499409.2:p.Glu318Lys
ENST00000478585.6:c.955G>A	ENSP00000499762.2:p.Glu319Lys
ENST00000480232.6:c.1000G>A	ENSP00000499545.2:p.Glu334Lys
ENST00000481039.6:c.955G>A	ENSP00000499767.2:p.Glu319Lys
ENST00000482112.6:c.952G>A	ENSP00000499794.2:p.Glu318Lys
ENST00000485673.6:c.955G>A	ENSP00000499334.2:p.Glu319Lys
ENST00000488546.6:c.955G>A	ENSP00000499332.2:p.Glu319Lys
ENST00000488652.6:c.997G>A	ENSP00000499435.2:p.Glu333Lys
ENST00000492907.6:c.955G>A	ENSP00000499443.2:p.Glu319Lys
ENST00000603546.2:c.997G>A	ENSP00000474802.2:p.Glu333Lys
ENST00000604005.6:c.997G>A	ENSP00000474219.2:p.Glu333Lys
ENST00000663479.2:c.1000G>A	ENSP00000499353.2:p.Glu334Lys
ENST00000667293.2:c.997G>A	ENSP00000499293.2:p.Glu333Lys
ENST00000676826.2:c.3106G>A	ENSP00000504675.2:p.Glu1036Lys
ENST00000682092.1:n.5458G>A
ENST00000682134.1:n.3100G>A
ENST00000682411.1:n.3269G>A
ENST00000682590.1:n.5361G>A
ENST00000682680.1:n.5375G>A
ENST00000682803.1:c.847G>A	ENSP00000507069.1:p.Glu283Lys
ENST00000682829.1:n.3502G>A
ENST00000682917.1:n.1702G>A
ENST00000682986.1:n.6270G>A
ENST00000683015.1:c.1944G>A	ENSP00000506815.1:n.1944G>A
ENST00000683632.1:n.5956G>A
ENST00000683932.1:n.6950G>A
ENST00000684284.1:n.3552G>A
ENST00000684466.1:n.1813G>A
ENST00000684644.1:n.5494G>A
ENST00000684761.1:n.1667G>A
ENST00000306090.12:c.1078G>A	ENSP00000304472.12:p.Glu360Lys
ENST00000354359.12:c.1177G>A	ENSP00000346328.7:p.Glu393Lys
ENST00000371085.8:c.1174G>A MANE Select	ENSP00000360126.3:p.Glu392Lys
ENST00000371100.9:c.3103G>A MANE Plus Clinical	ENSP00000360141.3:p.Glu1035Lys
ENST00000656419.1:c.703G>A	ENSP00000499614.1:p.Glu235Lys
ENST00000657090.1:c.997G>A	ENSP00000499380.1:p.Glu333Lys
ENST00000667293.1:c.1045G>A	ENSP00000499293.1:p.Glu349Lys
ENST00000265620.11:c.1129G>A	ENSP00000265620.7:p.Glu377Lys
ENST00000306090.11:c.466G>A	ENSP00000304472.11:p.Glu156Lys
ENST00000313949.11:c.*1077G>A	ENSP00000323571.7:n.*1077G>A
ENST00000354359.11:c.1177G>A	ENSP00000346328.7:p.Glu393Lys
ENST00000371075.7:c.*1080G>A MANE Plus Clinical	ENSP00000360115.3:n.*1080G>A
ENST00000371085.7:c.1174G>A	ENSP00000360126.3:p.Glu392Lys
ENST00000371095.7:c.1132G>A	ENSP00000360136.3:p.Glu378Lys
ENST00000371100.8:c.3103G>A	ENSP00000360141.3:p.Glu1035Lys
ENST00000371102.8:c.3061G>A	ENSP00000360143.4:p.Glu1021Lys
ENST00000464624.6:n.3390G>A
ENST00000476196.5:n.1467G>A
ENST00000477931.5:n.1289G>A
ENST00000480975.5:n.1173G>A
ENST00000487862.5:n.1408G>A
ENST00000496934.5:n.2463G>A
NM_000516.4:c.1174G>A	NP_000507.1:p.Glu392Lys
NM_000516.5:c.1174G>A	NP_000507.1:p.Glu392Lys
NM_001077488.2:c.1177G>A	NP_001070956.1:p.Glu393Lys
NM_001077488.3:c.1177G>A	NP_001070956.1:p.Glu393Lys
NM_001077489.2:c.1129G>A	NP_001070957.1:p.Glu377Lys
NM_001077489.3:c.1129G>A	NP_001070957.1:p.Glu377Lys
NM_001077490.1:c.*1035G>A	NP_001070958.1:n.*1035G>A
NM_001077490.2:c.*1035G>A	NP_001070958.1:n.*1035G>A
NM_001309840.1:c.997G>A	NP_001296769.1:p.Glu333Lys
NM_001309861.1:c.997G>A	NP_001296790.1:p.Glu333Lys
NM_016592.2:c.*1080G>A	NP_057676.1:n.*1080G>A
NM_016592.3:c.*1080G>A	NP_057676.1:n.*1080G>A
NM_080425.2:c.3103G>A	NP_536350.2:p.Glu1035Lys
NM_080425.3:c.3103G>A	NP_536350.2:p.Glu1035Lys
NM_080426.2:c.1132G>A	NP_536351.1:p.Glu378Lys
NM_080426.3:c.1132G>A	NP_536351.1:p.Glu378Lys
NR_003259.1:c.-4294966032G>A
XM_017027812.2:c.3106G>A	XP_016883301.1:p.Glu1036Lys
XM_017027813.2:c.3061G>A	XP_016883302.1:p.Glu1021Lys
XM_017027814.2:c.3058G>A	XP_016883303.1:p.Glu1020Lys
XM_017027815.1:c.1033G>A	XP_016883304.1:p.Glu345Lys
XM_017027816.1:c.952G>A	XP_016883305.1:p.Glu318Lys
XM_017027817.1:c.952G>A	XP_016883306.1:p.Glu318Lys
XM_017027818.2:c.952G>A	XP_016883307.1:p.Glu318Lys
XM_017027819.1:c.952G>A	XP_016883308.1:p.Glu318Lys
XM_017027820.1:c.952G>A	XP_016883309.1:p.Glu318Lys
XM_024451872.1:c.1078G>A	XP_024307640.1:p.Glu360Lys
XM_024451873.1:c.997G>A	XP_024307641.1:p.Glu333Lys
XM_024451874.1:c.997G>A	XP_024307642.1:p.Glu333Lys
XM_024451875.1:c.997G>A	XP_024307643.1:p.Glu333Lys
XR_002958471.1:n.1881G>A
NM_000516.6:c.1174G>A	NP_000507.1:p.Glu392Lys
NM_001077488.4:c.1177G>A	NP_001070956.1:p.Glu393Lys
NM_001077489.4:c.1129G>A	NP_001070957.1:p.Glu377Lys
NM_001309840.2:c.997G>A	NP_001296769.1:p.Glu333Lys
NM_001309861.2:c.997G>A	NP_001296790.1:p.Glu333Lys
NM_016592.4:c.*1080G>A	NP_057676.1:n.*1080G>A
NM_080426.4:c.1132G>A	NP_536351.1:p.Glu378Lys
NM_000516.7:c.1174G>A MANE Select	NP_000507.1:p.Glu392Lys
NM_001077488.5:c.1177G>A	NP_001070956.1:p.Glu393Lys
NM_001077490.3:c.*1035G>A	NP_001070958.1:n.*1035G>A
NM_016592.5:c.*1080G>A MANE Plus Clinical	NP_057676.1:n.*1080G>A
NM_080425.4:c.3103G>A MANE Plus Clinical	NP_536350.2:p.Glu1035Lys