Canonical Allele Identifier: CA128613

Gene: GNAS

Linked Data

• ClinVar Variation Id: 29746
• ClinVar RCV Id: RCV000022598
• dbSNP Id: rs397514457
• MyVariant Identifiers: chr20:g.57485862T>G (hg19) ; chr20:g.58910807T>G (hg38)
• PubMed: PMID:21488135

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.58910807T>G , CM000682.2:g.58910807T>G	GRCh38
NC_000020.10:g.57485862T>G , CM000682.1:g.57485862T>G	GRCh37
NC_000020.9:g.56919257T>G	NCBI36
NG_016194.1:g.76068T>G
NG_016194.2:g.76068T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349036.9:c.3047T>G	ENSP00000265621.6:p.Leu1016Arg
ENST00000419558.7:c.*1021T>G	ENSP00000416234.2:n.*1021T>G
ENST00000453292.7:c.1762T>G	ENSP00000392000.2:n.1762T>G
ENST00000462499.6:c.944T>G	ENSP00000499758.2:p.Leu315Arg
ENST00000464624.7:c.*1005T>G	ENSP00000499607.2:n.*1005T>G
ENST00000464788.6:c.986T>G	ENSP00000499239.2:p.Leu329Arg
ENST00000467227.6:c.944T>G	ENSP00000499681.2:p.Leu315Arg
ENST00000467321.6:c.986T>G	ENSP00000499523.2:p.Leu329Arg
ENST00000468895.6:c.*54T>G	ENSP00000499551.2:n.*54T>G
ENST00000469431.6:c.986T>G	ENSP00000499654.2:p.Leu329Arg
ENST00000470512.6:c.989T>G	ENSP00000499552.2:p.Leu330Arg
ENST00000472183.6:c.986T>G	ENSP00000499673.2:p.Leu329Arg
ENST00000476935.6:c.941T>G	ENSP00000499409.2:p.Leu314Arg
ENST00000478585.6:c.944T>G	ENSP00000499762.2:p.Leu315Arg
ENST00000480232.6:c.989T>G	ENSP00000499545.2:p.Leu330Arg
ENST00000481039.6:c.944T>G	ENSP00000499767.2:p.Leu315Arg
ENST00000482112.6:c.941T>G	ENSP00000499794.2:p.Leu314Arg
ENST00000485673.6:c.944T>G	ENSP00000499334.2:p.Leu315Arg
ENST00000488546.6:c.944T>G	ENSP00000499332.2:p.Leu315Arg
ENST00000488652.6:c.986T>G	ENSP00000499435.2:p.Leu329Arg
ENST00000492907.6:c.944T>G	ENSP00000499443.2:p.Leu315Arg
ENST00000603546.2:c.986T>G	ENSP00000474802.2:p.Leu329Arg
ENST00000604005.6:c.986T>G	ENSP00000474219.2:p.Leu329Arg
ENST00000663479.2:c.989T>G	ENSP00000499353.2:p.Leu330Arg
ENST00000667293.2:c.986T>G	ENSP00000499293.2:p.Leu329Arg
ENST00000676826.2:c.3095T>G	ENSP00000504675.2:p.Leu1032Arg
ENST00000682092.1:n.5447T>G
ENST00000682134.1:n.3089T>G
ENST00000682411.1:n.3258T>G
ENST00000682590.1:n.5350T>G
ENST00000682680.1:n.5364T>G
ENST00000682803.1:c.836T>G	ENSP00000507069.1:p.Leu279Arg
ENST00000682829.1:n.3491T>G
ENST00000682917.1:n.1691T>G
ENST00000682986.1:n.6259T>G
ENST00000683015.1:c.1933T>G	ENSP00000506815.1:n.1933T>G
ENST00000683632.1:n.5945T>G
ENST00000683932.1:n.6939T>G
ENST00000684284.1:n.3541T>G
ENST00000684466.1:n.1802T>G
ENST00000684644.1:n.5483T>G
ENST00000684761.1:n.1656T>G
ENST00000306090.12:c.1067T>G	ENSP00000304472.12:p.Leu356Arg
ENST00000354359.12:c.1166T>G	ENSP00000346328.7:p.Leu389Arg
ENST00000371085.8:c.1163T>G MANE Select	ENSP00000360126.3:p.Leu388Arg
ENST00000371100.9:c.3092T>G MANE Plus Clinical	ENSP00000360141.3:p.Leu1031Arg
ENST00000656419.1:c.692T>G	ENSP00000499614.1:p.Leu231Arg
ENST00000657090.1:c.986T>G	ENSP00000499380.1:p.Leu329Arg
ENST00000667293.1:c.1034T>G	ENSP00000499293.1:p.Leu345Arg
ENST00000265620.11:c.1118T>G	ENSP00000265620.7:p.Leu373Arg
ENST00000306090.11:c.455T>G	ENSP00000304472.11:p.Leu152Arg
ENST00000313949.11:c.*1066T>G	ENSP00000323571.7:n.*1066T>G
ENST00000354359.11:c.1166T>G	ENSP00000346328.7:p.Leu389Arg
ENST00000371075.7:c.*1069T>G MANE Plus Clinical	ENSP00000360115.3:n.*1069T>G
ENST00000371085.7:c.1163T>G	ENSP00000360126.3:p.Leu388Arg
ENST00000371095.7:c.1121T>G	ENSP00000360136.3:p.Leu374Arg
ENST00000371100.8:c.3092T>G	ENSP00000360141.3:p.Leu1031Arg
ENST00000371102.8:c.3050T>G	ENSP00000360143.4:p.Leu1017Arg
ENST00000464624.6:n.3379T>G
ENST00000476196.5:n.1456T>G
ENST00000477931.5:n.1278T>G
ENST00000480975.5:n.1162T>G
ENST00000487862.5:n.1397T>G
ENST00000496934.5:n.2452T>G
NM_000516.4:c.1163T>G	NP_000507.1:p.Leu388Arg
NM_000516.5:c.1163T>G	NP_000507.1:p.Leu388Arg
NM_001077488.2:c.1166T>G	NP_001070956.1:p.Leu389Arg
NM_001077488.3:c.1166T>G	NP_001070956.1:p.Leu389Arg
NM_001077489.2:c.1118T>G	NP_001070957.1:p.Leu373Arg
NM_001077489.3:c.1118T>G	NP_001070957.1:p.Leu373Arg
NM_001077490.1:c.*1024T>G	NP_001070958.1:n.*1024T>G
NM_001077490.2:c.*1024T>G	NP_001070958.1:n.*1024T>G
NM_001309840.1:c.986T>G	NP_001296769.1:p.Leu329Arg
NM_001309861.1:c.986T>G	NP_001296790.1:p.Leu329Arg
NM_016592.2:c.*1069T>G	NP_057676.1:n.*1069T>G
NM_016592.3:c.*1069T>G	NP_057676.1:n.*1069T>G
NM_080425.2:c.3092T>G	NP_536350.2:p.Leu1031Arg
NM_080425.3:c.3092T>G	NP_536350.2:p.Leu1031Arg
NM_080426.2:c.1121T>G	NP_536351.1:p.Leu374Arg
NM_080426.3:c.1121T>G	NP_536351.1:p.Leu374Arg
NR_003259.1:c.-4294966043T>G
XM_017027812.2:c.3095T>G	XP_016883301.1:p.Leu1032Arg
XM_017027813.2:c.3050T>G	XP_016883302.1:p.Leu1017Arg
XM_017027814.2:c.3047T>G	XP_016883303.1:p.Leu1016Arg
XM_017027815.1:c.1022T>G	XP_016883304.1:p.Leu341Arg
XM_017027816.1:c.941T>G	XP_016883305.1:p.Leu314Arg
XM_017027817.1:c.941T>G	XP_016883306.1:p.Leu314Arg
XM_017027818.2:c.941T>G	XP_016883307.1:p.Leu314Arg
XM_017027819.1:c.941T>G	XP_016883308.1:p.Leu314Arg
XM_017027820.1:c.941T>G	XP_016883309.1:p.Leu314Arg
XM_024451872.1:c.1067T>G	XP_024307640.1:p.Leu356Arg
XM_024451873.1:c.986T>G	XP_024307641.1:p.Leu329Arg
XM_024451874.1:c.986T>G	XP_024307642.1:p.Leu329Arg
XM_024451875.1:c.986T>G	XP_024307643.1:p.Leu329Arg
XR_002958471.1:n.1870T>G
NM_000516.6:c.1163T>G	NP_000507.1:p.Leu388Arg
NM_001077488.4:c.1166T>G	NP_001070956.1:p.Leu389Arg
NM_001077489.4:c.1118T>G	NP_001070957.1:p.Leu373Arg
NM_001309840.2:c.986T>G	NP_001296769.1:p.Leu329Arg
NM_001309861.2:c.986T>G	NP_001296790.1:p.Leu329Arg
NM_016592.4:c.*1069T>G	NP_057676.1:n.*1069T>G
NM_080426.4:c.1121T>G	NP_536351.1:p.Leu374Arg
NM_000516.7:c.1163T>G MANE Select	NP_000507.1:p.Leu388Arg
NM_001077488.5:c.1166T>G	NP_001070956.1:p.Leu389Arg
NM_001077490.3:c.*1024T>G	NP_001070958.1:n.*1024T>G
NM_016592.5:c.*1069T>G MANE Plus Clinical	NP_057676.1:n.*1069T>G
NM_080425.4:c.3092T>G MANE Plus Clinical	NP_536350.2:p.Leu1031Arg