Canonical Allele Identifier: CA409450332

Gene: GNAS

Linked Data

• MyVariant Identifiers: chr20:g.57478637T>G (hg19) ; chr20:g.58903582T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.58903582T>G , CM000682.2:g.58903582T>G	GRCh38
NC_000020.10:g.57478637T>G , CM000682.1:g.57478637T>G	GRCh37
NC_000020.9:g.56912032T>G	NCBI36
NG_016194.1:g.68843T>G
NG_016194.2:g.68843T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349036.9:c.2193T>G	ENSP00000265621.6:p.Ile731Met
ENST00000419558.7:c.*167T>G	ENSP00000416234.2:n.*167T>G
ENST00000453292.7:c.908T>G	ENSP00000392000.2:n.908T>G
ENST00000462499.6:c.90T>G	ENSP00000499758.2:p.Ile30Met
ENST00000464624.7:c.*151T>G	ENSP00000499607.2:n.*151T>G
ENST00000464788.6:c.132T>G	ENSP00000499239.2:p.Ile44Met
ENST00000467227.6:c.90T>G	ENSP00000499681.2:p.Ile30Met
ENST00000467321.6:c.132T>G	ENSP00000499523.2:p.Ile44Met
ENST00000468895.6:c.309T>G	ENSP00000499551.2:p.Ile103Met
ENST00000469431.6:c.132T>G	ENSP00000499654.2:p.Ile44Met
ENST00000470512.6:c.135T>G	ENSP00000499552.2:p.Ile45Met
ENST00000472183.6:c.132T>G	ENSP00000499673.2:p.Ile44Met
ENST00000475610.2:n.815T>G
ENST00000476935.6:c.87T>G	ENSP00000499409.2:p.Ile29Met
ENST00000478585.6:c.90T>G	ENSP00000499762.2:p.Ile30Met
ENST00000480232.6:c.135T>G	ENSP00000499545.2:p.Ile45Met
ENST00000481039.6:c.90T>G	ENSP00000499767.2:p.Ile30Met
ENST00000482112.6:c.87T>G	ENSP00000499794.2:p.Ile29Met
ENST00000485673.6:c.90T>G	ENSP00000499334.2:p.Ile30Met
ENST00000488546.6:c.90T>G	ENSP00000499332.2:p.Ile30Met
ENST00000488652.6:c.132T>G	ENSP00000499435.2:p.Ile44Met
ENST00000492907.6:c.90T>G	ENSP00000499443.2:p.Ile30Met
ENST00000603546.2:c.132T>G	ENSP00000474802.2:p.Ile44Met
ENST00000604005.6:c.132T>G	ENSP00000474219.2:p.Ile44Met
ENST00000663479.2:c.135T>G	ENSP00000499353.2:p.Ile45Met
ENST00000667293.2:c.132T>G	ENSP00000499293.2:p.Ile44Met
ENST00000676826.2:c.2241T>G	ENSP00000504675.2:p.Ile747Met
ENST00000682092.1:n.815T>G
ENST00000682134.1:n.2235T>G
ENST00000682411.1:n.813T>G
ENST00000682590.1:n.815T>G
ENST00000682680.1:n.743T>G
ENST00000682803.1:c.-19T>G	ENSP00000507069.1:n.-19T>G
ENST00000682829.1:n.2637T>G
ENST00000682917.1:n.751T>G
ENST00000682986.1:n.815T>G
ENST00000683015.1:c.1079T>G	ENSP00000506815.1:n.1079T>G
ENST00000683632.1:n.824T>G
ENST00000683932.1:n.813T>G
ENST00000684284.1:n.2687T>G
ENST00000684466.1:n.815T>G
ENST00000684644.1:n.815T>G
ENST00000684761.1:n.815T>G
ENST00000306090.12:c.213T>G	ENSP00000304472.12:p.Ile71Met
ENST00000349036.8:c.2193T>G	ENSP00000265621.5:p.Ile731Met
ENST00000354359.12:c.312T>G	ENSP00000346328.7:p.Ile104Met
ENST00000371085.8:c.309T>G MANE Select	ENSP00000360126.3:p.Ile103Met
ENST00000371100.9:c.2238T>G MANE Plus Clinical	ENSP00000360141.3:p.Ile746Met
ENST00000419558.6:c.*167T>G	ENSP00000416234.2:n.*167T>G
ENST00000461152.6:c.1037T>G	ENSP00000499274.1:n.1037T>G
ENST00000490374.6:n.474T>G
ENST00000657090.1:c.132T>G	ENSP00000499380.1:p.Ile44Met
ENST00000663479.1:c.135T>G	ENSP00000499353.1:p.Ile45Met
ENST00000667293.1:c.180T>G	ENSP00000499293.1:p.Ile60Met
ENST00000676826.1:c.2241T>G	ENSP00000504675.1:p.Ile747Met
ENST00000265620.11:c.264T>G	ENSP00000265620.7:p.Ile88Met
ENST00000306090.11:c.94-6185T>G	ENSP00000304472.11:n.94-6185T>G
ENST00000313949.11:c.*212T>G	ENSP00000323571.7:n.*212T>G
ENST00000349036.7:c.360T>G	ENSP00000265621.4:p.Ile120Met
ENST00000354359.11:c.312T>G	ENSP00000346328.7:p.Ile104Met
ENST00000371075.7:c.*215T>G MANE Plus Clinical	ENSP00000360115.3:n.*215T>G
ENST00000371085.7:c.309T>G	ENSP00000360126.3:p.Ile103Met
ENST00000371095.7:c.267T>G	ENSP00000360136.3:p.Ile89Met
ENST00000371100.8:c.2238T>G	ENSP00000360141.3:p.Ile746Met
ENST00000371102.8:c.2196T>G	ENSP00000360143.4:p.Ile732Met
ENST00000419558.5:c.508T>G
ENST00000450130.5:c.352T>G
ENST00000461152.5:n.275T>G
ENST00000462499.5:n.386T>G
ENST00000464624.6:n.2525T>G
ENST00000464788.5:n.237T>G
ENST00000467227.5:n.250T>G
ENST00000467321.5:n.324T>G
ENST00000468895.5:n.178T>G
ENST00000469431.5:n.426T>G
ENST00000470512.5:n.383T>G
ENST00000472183.5:n.561T>G
ENST00000476196.5:n.602T>G
ENST00000476935.5:n.298T>G
ENST00000477931.5:n.424T>G
ENST00000478585.5:n.322T>G
ENST00000480232.5:n.328T>G
ENST00000480975.5:n.308T>G
ENST00000481039.5:n.226T>G
ENST00000482112.5:n.383T>G
ENST00000485673.5:n.554T>G
ENST00000487862.5:n.543T>G
ENST00000487981.5:n.46T>G
ENST00000488546.5:n.168T>G
ENST00000488652.5:n.399T>G
ENST00000490374.5:n.427T>G
ENST00000492907.5:n.260T>G
ENST00000494081.5:n.52T>G
ENST00000496934.5:n.1598T>G
ENST00000603546.1:c.132T>G	ENSP00000474802.1:p.Ile44Met
ENST00000604005.5:c.132T>G	ENSP00000474219.1:p.Ile44Met
NM_000516.4:c.309T>G	NP_000507.1:p.Ile103Met
NM_000516.5:c.309T>G	NP_000507.1:p.Ile103Met
NM_001077488.2:c.312T>G	NP_001070956.1:p.Ile104Met
NM_001077488.3:c.312T>G	NP_001070956.1:p.Ile104Met
NM_001077489.2:c.264T>G	NP_001070957.1:p.Ile88Met
NM_001077489.3:c.264T>G	NP_001070957.1:p.Ile88Met
NM_001077490.1:c.*170T>G	NP_001070958.1:n.*170T>G
NM_001077490.2:c.*170T>G	NP_001070958.1:n.*170T>G
NM_001309840.1:c.132T>G	NP_001296769.1:p.Ile44Met
NM_001309861.1:c.132T>G	NP_001296790.1:p.Ile44Met
NM_016592.2:c.*215T>G	NP_057676.1:n.*215T>G
NM_016592.3:c.*215T>G	NP_057676.1:n.*215T>G
NM_080425.2:c.2238T>G	NP_536350.2:p.Ile746Met
NM_080425.3:c.2238T>G	NP_536350.2:p.Ile746Met
NM_080426.2:c.267T>G	NP_536351.1:p.Ile89Met
NM_080426.3:c.267T>G	NP_536351.1:p.Ile89Met
NR_003259.1:c.-4294966897T>G
XM_017027812.2:c.2241T>G	XP_016883301.1:p.Ile747Met
XM_017027813.2:c.2196T>G	XP_016883302.1:p.Ile732Met
XM_017027814.2:c.2193T>G	XP_016883303.1:p.Ile731Met
XM_017027815.1:c.168T>G	XP_016883304.1:p.Ile56Met
XM_017027816.1:c.87T>G	XP_016883305.1:p.Ile29Met
XM_017027817.1:c.87T>G	XP_016883306.1:p.Ile29Met
XM_017027818.2:c.87T>G	XP_016883307.1:p.Ile29Met
XM_017027819.1:c.87T>G	XP_016883308.1:p.Ile29Met
XM_017027820.1:c.87T>G	XP_016883309.1:p.Ile29Met
XM_017027821.1:c.*212T>G	XP_016883310.1:n.*212T>G
XM_017027822.1:c.*167T>G	XP_016883311.1:n.*167T>G
XM_024451872.1:c.213T>G	XP_024307640.1:p.Ile71Met
XM_024451873.1:c.132T>G	XP_024307641.1:p.Ile44Met
XM_024451874.1:c.132T>G	XP_024307642.1:p.Ile44Met
XM_024451875.1:c.132T>G	XP_024307643.1:p.Ile44Met
XR_002958471.1:n.1016T>G
NM_000516.6:c.309T>G	NP_000507.1:p.Ile103Met
NM_001077488.4:c.312T>G	NP_001070956.1:p.Ile104Met
NM_001077489.4:c.264T>G	NP_001070957.1:p.Ile88Met
NM_001309840.2:c.132T>G	NP_001296769.1:p.Ile44Met
NM_001309861.2:c.132T>G	NP_001296790.1:p.Ile44Met
NM_016592.4:c.*215T>G	NP_057676.1:n.*215T>G
NM_080426.4:c.267T>G	NP_536351.1:p.Ile89Met
NM_000516.7:c.309T>G MANE Select	NP_000507.1:p.Ile103Met
NM_001077488.5:c.312T>G	NP_001070956.1:p.Ile104Met
NM_001077490.3:c.*170T>G	NP_001070958.1:n.*170T>G
NM_016592.5:c.*215T>G MANE Plus Clinical	NP_057676.1:n.*215T>G
NM_080425.4:c.2238T>G MANE Plus Clinical	NP_536350.2:p.Ile746Met