Canonical Allele Identifier: CA409452751

Gene: GNAS

Linked Data

• MyVariant Identifiers: chr20:g.57484837T>C (hg19) ; chr20:g.58909782T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.58909782T>C , CM000682.2:g.58909782T>C	GRCh38
NC_000020.10:g.57484837T>C , CM000682.1:g.57484837T>C	GRCh37
NC_000020.9:g.56918232T>C	NCBI36
NG_016194.1:g.75043T>C
NG_016194.2:g.75043T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349036.9:c.2701T>C	ENSP00000265621.6:p.Phe901Leu
ENST00000419558.7:c.*675T>C	ENSP00000416234.2:n.*675T>C
ENST00000453292.7:c.1416T>C	ENSP00000392000.2:n.1416T>C
ENST00000462499.6:c.598T>C	ENSP00000499758.2:p.Phe200Leu
ENST00000464624.7:c.*659T>C	ENSP00000499607.2:n.*659T>C
ENST00000464788.6:c.640T>C	ENSP00000499239.2:p.Phe214Leu
ENST00000467227.6:c.598T>C	ENSP00000499681.2:p.Phe200Leu
ENST00000467321.6:c.640T>C	ENSP00000499523.2:p.Phe214Leu
ENST00000468895.6:c.817T>C	ENSP00000499551.2:p.Phe273Leu
ENST00000469431.6:c.640T>C	ENSP00000499654.2:p.Phe214Leu
ENST00000470512.6:c.643T>C	ENSP00000499552.2:p.Phe215Leu
ENST00000472183.6:c.640T>C	ENSP00000499673.2:p.Phe214Leu
ENST00000475610.2:n.1323T>C
ENST00000476935.6:c.595T>C	ENSP00000499409.2:p.Phe199Leu
ENST00000478585.6:c.598T>C	ENSP00000499762.2:p.Phe200Leu
ENST00000480232.6:c.643T>C	ENSP00000499545.2:p.Phe215Leu
ENST00000481039.6:c.598T>C	ENSP00000499767.2:p.Phe200Leu
ENST00000482112.6:c.595T>C	ENSP00000499794.2:p.Phe199Leu
ENST00000485673.6:c.598T>C	ENSP00000499334.2:p.Phe200Leu
ENST00000488546.6:c.598T>C	ENSP00000499332.2:p.Phe200Leu
ENST00000488652.6:c.640T>C	ENSP00000499435.2:p.Phe214Leu
ENST00000492907.6:c.598T>C	ENSP00000499443.2:p.Phe200Leu
ENST00000603546.2:c.640T>C	ENSP00000474802.2:p.Phe214Leu
ENST00000604005.6:c.640T>C	ENSP00000474219.2:p.Phe214Leu
ENST00000663479.2:c.643T>C	ENSP00000499353.2:p.Phe215Leu
ENST00000667293.2:c.640T>C	ENSP00000499293.2:p.Phe214Leu
ENST00000676826.2:c.2749T>C	ENSP00000504675.2:p.Phe917Leu
ENST00000682092.1:n.5101T>C
ENST00000682134.1:n.2743T>C
ENST00000682411.1:n.2912T>C
ENST00000682590.1:n.5004T>C
ENST00000682680.1:n.5018T>C
ENST00000682803.1:c.490T>C	ENSP00000507069.1:p.Phe164Leu
ENST00000682829.1:n.3145T>C
ENST00000682917.1:n.1345T>C
ENST00000682986.1:n.5234T>C
ENST00000683015.1:c.1587T>C	ENSP00000506815.1:n.1587T>C
ENST00000683632.1:n.5347T>C
ENST00000683932.1:n.6593T>C
ENST00000684284.1:n.3195T>C
ENST00000684466.1:n.1456T>C
ENST00000684644.1:n.5137T>C
ENST00000684761.1:n.1310T>C
ENST00000306090.12:c.721T>C	ENSP00000304472.12:p.Phe241Leu
ENST00000354359.12:c.820T>C	ENSP00000346328.7:p.Phe274Leu
ENST00000371085.8:c.817T>C MANE Select	ENSP00000360126.3:p.Phe273Leu
ENST00000371100.9:c.2746T>C MANE Plus Clinical	ENSP00000360141.3:p.Phe916Leu
ENST00000656419.1:c.346T>C	ENSP00000499614.1:p.Phe116Leu
ENST00000657090.1:c.640T>C	ENSP00000499380.1:p.Phe214Leu
ENST00000667293.1:c.688T>C	ENSP00000499293.1:p.Phe230Leu
ENST00000265620.11:c.772T>C	ENSP00000265620.7:p.Phe258Leu
ENST00000306090.11:c.109T>C	ENSP00000304472.11:p.Phe37Leu
ENST00000313949.11:c.*720T>C	ENSP00000323571.7:n.*720T>C
ENST00000354359.11:c.820T>C	ENSP00000346328.7:p.Phe274Leu
ENST00000371075.7:c.*723T>C MANE Plus Clinical	ENSP00000360115.3:n.*723T>C
ENST00000371085.7:c.817T>C	ENSP00000360126.3:p.Phe273Leu
ENST00000371095.7:c.775T>C	ENSP00000360136.3:p.Phe259Leu
ENST00000371100.8:c.2746T>C	ENSP00000360141.3:p.Phe916Leu
ENST00000371102.8:c.2704T>C	ENSP00000360143.4:p.Phe902Leu
ENST00000464624.6:n.3033T>C
ENST00000470512.5:n.891T>C
ENST00000476196.5:n.1110T>C
ENST00000476935.5:n.806T>C
ENST00000477931.5:n.932T>C
ENST00000480232.5:n.836T>C
ENST00000480975.5:n.816T>C
ENST00000481039.5:n.734T>C
ENST00000487862.5:n.1051T>C
ENST00000488546.5:n.676T>C
ENST00000488652.5:n.907T>C
ENST00000492907.5:n.768T>C
ENST00000494081.5:n.372T>C
ENST00000496934.5:n.2106T>C
NM_000516.4:c.817T>C	NP_000507.1:p.Phe273Leu
NM_000516.5:c.817T>C	NP_000507.1:p.Phe273Leu
NM_001077488.2:c.820T>C	NP_001070956.1:p.Phe274Leu
NM_001077488.3:c.820T>C	NP_001070956.1:p.Phe274Leu
NM_001077489.2:c.772T>C	NP_001070957.1:p.Phe258Leu
NM_001077489.3:c.772T>C	NP_001070957.1:p.Phe258Leu
NM_001077490.1:c.*678T>C	NP_001070958.1:n.*678T>C
NM_001077490.2:c.*678T>C	NP_001070958.1:n.*678T>C
NM_001309840.1:c.640T>C	NP_001296769.1:p.Phe214Leu
NM_001309861.1:c.640T>C	NP_001296790.1:p.Phe214Leu
NM_016592.2:c.*723T>C	NP_057676.1:n.*723T>C
NM_016592.3:c.*723T>C	NP_057676.1:n.*723T>C
NM_080425.2:c.2746T>C	NP_536350.2:p.Phe916Leu
NM_080425.3:c.2746T>C	NP_536350.2:p.Phe916Leu
NM_080426.2:c.775T>C	NP_536351.1:p.Phe259Leu
NM_080426.3:c.775T>C	NP_536351.1:p.Phe259Leu
NR_003259.1:c.-4294966389T>C
XM_017027812.2:c.2749T>C	XP_016883301.1:p.Phe917Leu
XM_017027813.2:c.2704T>C	XP_016883302.1:p.Phe902Leu
XM_017027814.2:c.2701T>C	XP_016883303.1:p.Phe901Leu
XM_017027815.1:c.676T>C	XP_016883304.1:p.Phe226Leu
XM_017027816.1:c.595T>C	XP_016883305.1:p.Phe199Leu
XM_017027817.1:c.595T>C	XP_016883306.1:p.Phe199Leu
XM_017027818.2:c.595T>C	XP_016883307.1:p.Phe199Leu
XM_017027819.1:c.595T>C	XP_016883308.1:p.Phe199Leu
XM_017027820.1:c.595T>C	XP_016883309.1:p.Phe199Leu
XM_024451872.1:c.721T>C	XP_024307640.1:p.Phe241Leu
XM_024451873.1:c.640T>C	XP_024307641.1:p.Phe214Leu
XM_024451874.1:c.640T>C	XP_024307642.1:p.Phe214Leu
XM_024451875.1:c.640T>C	XP_024307643.1:p.Phe214Leu
XR_002958471.1:n.1524T>C
NM_000516.6:c.817T>C	NP_000507.1:p.Phe273Leu
NM_001077488.4:c.820T>C	NP_001070956.1:p.Phe274Leu
NM_001077489.4:c.772T>C	NP_001070957.1:p.Phe258Leu
NM_001309840.2:c.640T>C	NP_001296769.1:p.Phe214Leu
NM_001309861.2:c.640T>C	NP_001296790.1:p.Phe214Leu
NM_016592.4:c.*723T>C	NP_057676.1:n.*723T>C
NM_080426.4:c.775T>C	NP_536351.1:p.Phe259Leu
NM_000516.7:c.817T>C MANE Select	NP_000507.1:p.Phe273Leu
NM_001077488.5:c.820T>C	NP_001070956.1:p.Phe274Leu
NM_001077490.3:c.*678T>C	NP_001070958.1:n.*678T>C
NM_016592.5:c.*723T>C MANE Plus Clinical	NP_057676.1:n.*723T>C
NM_080425.4:c.2746T>C MANE Plus Clinical	NP_536350.2:p.Phe916Leu