Canonical Allele Identifier: CA409452786

Gene: GNAS

Linked Data

• MyVariant Identifiers: chr20:g.57484846A>T (hg19) ; chr20:g.58909791A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.58909791A>T , CM000682.2:g.58909791A>T	GRCh38
NC_000020.10:g.57484846A>T , CM000682.1:g.57484846A>T	GRCh37
NC_000020.9:g.56918241A>T	NCBI36
NG_016194.1:g.75052A>T
NG_016194.2:g.75052A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349036.9:c.2710A>T	ENSP00000265621.6:p.Ile904Phe
ENST00000419558.7:c.*684A>T	ENSP00000416234.2:n.*684A>T
ENST00000453292.7:c.1425A>T	ENSP00000392000.2:n.1425A>T
ENST00000462499.6:c.607A>T	ENSP00000499758.2:p.Ile203Phe
ENST00000464624.7:c.*668A>T	ENSP00000499607.2:n.*668A>T
ENST00000464788.6:c.649A>T	ENSP00000499239.2:p.Ile217Phe
ENST00000467227.6:c.607A>T	ENSP00000499681.2:p.Ile203Phe
ENST00000467321.6:c.649A>T	ENSP00000499523.2:p.Ile217Phe
ENST00000468895.6:c.826A>T	ENSP00000499551.2:p.Ile276Phe
ENST00000469431.6:c.649A>T	ENSP00000499654.2:p.Ile217Phe
ENST00000470512.6:c.652A>T	ENSP00000499552.2:p.Ile218Phe
ENST00000472183.6:c.649A>T	ENSP00000499673.2:p.Ile217Phe
ENST00000475610.2:n.1332A>T
ENST00000476935.6:c.604A>T	ENSP00000499409.2:p.Ile202Phe
ENST00000478585.6:c.607A>T	ENSP00000499762.2:p.Ile203Phe
ENST00000480232.6:c.652A>T	ENSP00000499545.2:p.Ile218Phe
ENST00000481039.6:c.607A>T	ENSP00000499767.2:p.Ile203Phe
ENST00000482112.6:c.604A>T	ENSP00000499794.2:p.Ile202Phe
ENST00000485673.6:c.607A>T	ENSP00000499334.2:p.Ile203Phe
ENST00000488546.6:c.607A>T	ENSP00000499332.2:p.Ile203Phe
ENST00000488652.6:c.649A>T	ENSP00000499435.2:p.Ile217Phe
ENST00000492907.6:c.607A>T	ENSP00000499443.2:p.Ile203Phe
ENST00000603546.2:c.649A>T	ENSP00000474802.2:p.Ile217Phe
ENST00000604005.6:c.649A>T	ENSP00000474219.2:p.Ile217Phe
ENST00000663479.2:c.652A>T	ENSP00000499353.2:p.Ile218Phe
ENST00000667293.2:c.649A>T	ENSP00000499293.2:p.Ile217Phe
ENST00000676826.2:c.2758A>T	ENSP00000504675.2:p.Ile920Phe
ENST00000682092.1:n.5110A>T
ENST00000682134.1:n.2752A>T
ENST00000682411.1:n.2921A>T
ENST00000682590.1:n.5013A>T
ENST00000682680.1:n.5027A>T
ENST00000682803.1:c.499A>T	ENSP00000507069.1:p.Ile167Phe
ENST00000682829.1:n.3154A>T
ENST00000682917.1:n.1354A>T
ENST00000682986.1:n.5243A>T
ENST00000683015.1:c.1596A>T	ENSP00000506815.1:n.1596A>T
ENST00000683632.1:n.5356A>T
ENST00000683932.1:n.6602A>T
ENST00000684284.1:n.3204A>T
ENST00000684466.1:n.1465A>T
ENST00000684644.1:n.5146A>T
ENST00000684761.1:n.1319A>T
ENST00000306090.12:c.730A>T	ENSP00000304472.12:p.Ile244Phe
ENST00000354359.12:c.829A>T	ENSP00000346328.7:p.Ile277Phe
ENST00000371085.8:c.826A>T MANE Select	ENSP00000360126.3:p.Ile276Phe
ENST00000371100.9:c.2755A>T MANE Plus Clinical	ENSP00000360141.3:p.Ile919Phe
ENST00000656419.1:c.355A>T	ENSP00000499614.1:p.Ile119Phe
ENST00000657090.1:c.649A>T	ENSP00000499380.1:p.Ile217Phe
ENST00000667293.1:c.697A>T	ENSP00000499293.1:p.Ile233Phe
ENST00000265620.11:c.781A>T	ENSP00000265620.7:p.Ile261Phe
ENST00000306090.11:c.118A>T	ENSP00000304472.11:p.Ile40Phe
ENST00000313949.11:c.*729A>T	ENSP00000323571.7:n.*729A>T
ENST00000354359.11:c.829A>T	ENSP00000346328.7:p.Ile277Phe
ENST00000371075.7:c.*732A>T MANE Plus Clinical	ENSP00000360115.3:n.*732A>T
ENST00000371085.7:c.826A>T	ENSP00000360126.3:p.Ile276Phe
ENST00000371095.7:c.784A>T	ENSP00000360136.3:p.Ile262Phe
ENST00000371100.8:c.2755A>T	ENSP00000360141.3:p.Ile919Phe
ENST00000371102.8:c.2713A>T	ENSP00000360143.4:p.Ile905Phe
ENST00000464624.6:n.3042A>T
ENST00000470512.5:n.900A>T
ENST00000476196.5:n.1119A>T
ENST00000476935.5:n.815A>T
ENST00000477931.5:n.941A>T
ENST00000480232.5:n.845A>T
ENST00000480975.5:n.825A>T
ENST00000481039.5:n.743A>T
ENST00000487862.5:n.1060A>T
ENST00000488546.5:n.685A>T
ENST00000488652.5:n.916A>T
ENST00000492907.5:n.777A>T
ENST00000494081.5:n.381A>T
ENST00000496934.5:n.2115A>T
NM_000516.4:c.826A>T	NP_000507.1:p.Ile276Phe
NM_000516.5:c.826A>T	NP_000507.1:p.Ile276Phe
NM_001077488.2:c.829A>T	NP_001070956.1:p.Ile277Phe
NM_001077488.3:c.829A>T	NP_001070956.1:p.Ile277Phe
NM_001077489.2:c.781A>T	NP_001070957.1:p.Ile261Phe
NM_001077489.3:c.781A>T	NP_001070957.1:p.Ile261Phe
NM_001077490.1:c.*687A>T	NP_001070958.1:n.*687A>T
NM_001077490.2:c.*687A>T	NP_001070958.1:n.*687A>T
NM_001309840.1:c.649A>T	NP_001296769.1:p.Ile217Phe
NM_001309861.1:c.649A>T	NP_001296790.1:p.Ile217Phe
NM_016592.2:c.*732A>T	NP_057676.1:n.*732A>T
NM_016592.3:c.*732A>T	NP_057676.1:n.*732A>T
NM_080425.2:c.2755A>T	NP_536350.2:p.Ile919Phe
NM_080425.3:c.2755A>T	NP_536350.2:p.Ile919Phe
NM_080426.2:c.784A>T	NP_536351.1:p.Ile262Phe
NM_080426.3:c.784A>T	NP_536351.1:p.Ile262Phe
NR_003259.1:c.-4294966380A>T
XM_017027812.2:c.2758A>T	XP_016883301.1:p.Ile920Phe
XM_017027813.2:c.2713A>T	XP_016883302.1:p.Ile905Phe
XM_017027814.2:c.2710A>T	XP_016883303.1:p.Ile904Phe
XM_017027815.1:c.685A>T	XP_016883304.1:p.Ile229Phe
XM_017027816.1:c.604A>T	XP_016883305.1:p.Ile202Phe
XM_017027817.1:c.604A>T	XP_016883306.1:p.Ile202Phe
XM_017027818.2:c.604A>T	XP_016883307.1:p.Ile202Phe
XM_017027819.1:c.604A>T	XP_016883308.1:p.Ile202Phe
XM_017027820.1:c.604A>T	XP_016883309.1:p.Ile202Phe
XM_024451872.1:c.730A>T	XP_024307640.1:p.Ile244Phe
XM_024451873.1:c.649A>T	XP_024307641.1:p.Ile217Phe
XM_024451874.1:c.649A>T	XP_024307642.1:p.Ile217Phe
XM_024451875.1:c.649A>T	XP_024307643.1:p.Ile217Phe
XR_002958471.1:n.1533A>T
NM_000516.6:c.826A>T	NP_000507.1:p.Ile276Phe
NM_001077488.4:c.829A>T	NP_001070956.1:p.Ile277Phe
NM_001077489.4:c.781A>T	NP_001070957.1:p.Ile261Phe
NM_001309840.2:c.649A>T	NP_001296769.1:p.Ile217Phe
NM_001309861.2:c.649A>T	NP_001296790.1:p.Ile217Phe
NM_016592.4:c.*732A>T	NP_057676.1:n.*732A>T
NM_080426.4:c.784A>T	NP_536351.1:p.Ile262Phe
NM_000516.7:c.826A>T MANE Select	NP_000507.1:p.Ile276Phe
NM_001077488.5:c.829A>T	NP_001070956.1:p.Ile277Phe
NM_001077490.3:c.*687A>T	NP_001070958.1:n.*687A>T
NM_016592.5:c.*732A>T MANE Plus Clinical	NP_057676.1:n.*732A>T
NM_080425.4:c.2755A>T MANE Plus Clinical	NP_536350.2:p.Ile919Phe