Canonical Allele Identifier: CA409452764

Gene: GNAS

Linked Data

• MyVariant Identifiers: chr20:g.57484840A>T (hg19) ; chr20:g.58909785A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.58909785A>T , CM000682.2:g.58909785A>T	GRCh38
NC_000020.10:g.57484840A>T , CM000682.1:g.57484840A>T	GRCh37
NC_000020.9:g.56918235A>T	NCBI36
NG_016194.1:g.75046A>T
NG_016194.2:g.75046A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349036.9:c.2704A>T	ENSP00000265621.6:p.Lys902Ter
ENST00000419558.7:c.*678A>T	ENSP00000416234.2:n.*678A>T
ENST00000453292.7:c.1419A>T	ENSP00000392000.2:n.1419A>T
ENST00000462499.6:c.601A>T	ENSP00000499758.2:p.Lys201Ter
ENST00000464624.7:c.*662A>T	ENSP00000499607.2:n.*662A>T
ENST00000464788.6:c.643A>T	ENSP00000499239.2:p.Lys215Ter
ENST00000467227.6:c.601A>T	ENSP00000499681.2:p.Lys201Ter
ENST00000467321.6:c.643A>T	ENSP00000499523.2:p.Lys215Ter
ENST00000468895.6:c.820A>T	ENSP00000499551.2:p.Lys274Ter
ENST00000469431.6:c.643A>T	ENSP00000499654.2:p.Lys215Ter
ENST00000470512.6:c.646A>T	ENSP00000499552.2:p.Lys216Ter
ENST00000472183.6:c.643A>T	ENSP00000499673.2:p.Lys215Ter
ENST00000475610.2:n.1326A>T
ENST00000476935.6:c.598A>T	ENSP00000499409.2:p.Lys200Ter
ENST00000478585.6:c.601A>T	ENSP00000499762.2:p.Lys201Ter
ENST00000480232.6:c.646A>T	ENSP00000499545.2:p.Lys216Ter
ENST00000481039.6:c.601A>T	ENSP00000499767.2:p.Lys201Ter
ENST00000482112.6:c.598A>T	ENSP00000499794.2:p.Lys200Ter
ENST00000485673.6:c.601A>T	ENSP00000499334.2:p.Lys201Ter
ENST00000488546.6:c.601A>T	ENSP00000499332.2:p.Lys201Ter
ENST00000488652.6:c.643A>T	ENSP00000499435.2:p.Lys215Ter
ENST00000492907.6:c.601A>T	ENSP00000499443.2:p.Lys201Ter
ENST00000603546.2:c.643A>T	ENSP00000474802.2:p.Lys215Ter
ENST00000604005.6:c.643A>T	ENSP00000474219.2:p.Lys215Ter
ENST00000663479.2:c.646A>T	ENSP00000499353.2:p.Lys216Ter
ENST00000667293.2:c.643A>T	ENSP00000499293.2:p.Lys215Ter
ENST00000676826.2:c.2752A>T	ENSP00000504675.2:p.Lys918Ter
ENST00000682092.1:n.5104A>T
ENST00000682134.1:n.2746A>T
ENST00000682411.1:n.2915A>T
ENST00000682590.1:n.5007A>T
ENST00000682680.1:n.5021A>T
ENST00000682803.1:c.493A>T	ENSP00000507069.1:p.Lys165Ter
ENST00000682829.1:n.3148A>T
ENST00000682917.1:n.1348A>T
ENST00000682986.1:n.5237A>T
ENST00000683015.1:c.1590A>T	ENSP00000506815.1:n.1590A>T
ENST00000683632.1:n.5350A>T
ENST00000683932.1:n.6596A>T
ENST00000684284.1:n.3198A>T
ENST00000684466.1:n.1459A>T
ENST00000684644.1:n.5140A>T
ENST00000684761.1:n.1313A>T
ENST00000306090.12:c.724A>T	ENSP00000304472.12:p.Lys242Ter
ENST00000354359.12:c.823A>T	ENSP00000346328.7:p.Lys275Ter
ENST00000371085.8:c.820A>T MANE Select	ENSP00000360126.3:p.Lys274Ter
ENST00000371100.9:c.2749A>T MANE Plus Clinical	ENSP00000360141.3:p.Lys917Ter
ENST00000656419.1:c.349A>T	ENSP00000499614.1:p.Lys117Ter
ENST00000657090.1:c.643A>T	ENSP00000499380.1:p.Lys215Ter
ENST00000667293.1:c.691A>T	ENSP00000499293.1:p.Lys231Ter
ENST00000265620.11:c.775A>T	ENSP00000265620.7:p.Lys259Ter
ENST00000306090.11:c.112A>T	ENSP00000304472.11:p.Lys38Ter
ENST00000313949.11:c.*723A>T	ENSP00000323571.7:n.*723A>T
ENST00000354359.11:c.823A>T	ENSP00000346328.7:p.Lys275Ter
ENST00000371075.7:c.*726A>T MANE Plus Clinical	ENSP00000360115.3:n.*726A>T
ENST00000371085.7:c.820A>T	ENSP00000360126.3:p.Lys274Ter
ENST00000371095.7:c.778A>T	ENSP00000360136.3:p.Lys260Ter
ENST00000371100.8:c.2749A>T	ENSP00000360141.3:p.Lys917Ter
ENST00000371102.8:c.2707A>T	ENSP00000360143.4:p.Lys903Ter
ENST00000464624.6:n.3036A>T
ENST00000470512.5:n.894A>T
ENST00000476196.5:n.1113A>T
ENST00000476935.5:n.809A>T
ENST00000477931.5:n.935A>T
ENST00000480232.5:n.839A>T
ENST00000480975.5:n.819A>T
ENST00000481039.5:n.737A>T
ENST00000487862.5:n.1054A>T
ENST00000488546.5:n.679A>T
ENST00000488652.5:n.910A>T
ENST00000492907.5:n.771A>T
ENST00000494081.5:n.375A>T
ENST00000496934.5:n.2109A>T
NM_000516.4:c.820A>T	NP_000507.1:p.Lys274Ter
NM_000516.5:c.820A>T	NP_000507.1:p.Lys274Ter
NM_001077488.2:c.823A>T	NP_001070956.1:p.Lys275Ter
NM_001077488.3:c.823A>T	NP_001070956.1:p.Lys275Ter
NM_001077489.2:c.775A>T	NP_001070957.1:p.Lys259Ter
NM_001077489.3:c.775A>T	NP_001070957.1:p.Lys259Ter
NM_001077490.1:c.*681A>T	NP_001070958.1:n.*681A>T
NM_001077490.2:c.*681A>T	NP_001070958.1:n.*681A>T
NM_001309840.1:c.643A>T	NP_001296769.1:p.Lys215Ter
NM_001309861.1:c.643A>T	NP_001296790.1:p.Lys215Ter
NM_016592.2:c.*726A>T	NP_057676.1:n.*726A>T
NM_016592.3:c.*726A>T	NP_057676.1:n.*726A>T
NM_080425.2:c.2749A>T	NP_536350.2:p.Lys917Ter
NM_080425.3:c.2749A>T	NP_536350.2:p.Lys917Ter
NM_080426.2:c.778A>T	NP_536351.1:p.Lys260Ter
NM_080426.3:c.778A>T	NP_536351.1:p.Lys260Ter
NR_003259.1:c.-4294966386A>T
XM_017027812.2:c.2752A>T	XP_016883301.1:p.Lys918Ter
XM_017027813.2:c.2707A>T	XP_016883302.1:p.Lys903Ter
XM_017027814.2:c.2704A>T	XP_016883303.1:p.Lys902Ter
XM_017027815.1:c.679A>T	XP_016883304.1:p.Lys227Ter
XM_017027816.1:c.598A>T	XP_016883305.1:p.Lys200Ter
XM_017027817.1:c.598A>T	XP_016883306.1:p.Lys200Ter
XM_017027818.2:c.598A>T	XP_016883307.1:p.Lys200Ter
XM_017027819.1:c.598A>T	XP_016883308.1:p.Lys200Ter
XM_017027820.1:c.598A>T	XP_016883309.1:p.Lys200Ter
XM_024451872.1:c.724A>T	XP_024307640.1:p.Lys242Ter
XM_024451873.1:c.643A>T	XP_024307641.1:p.Lys215Ter
XM_024451874.1:c.643A>T	XP_024307642.1:p.Lys215Ter
XM_024451875.1:c.643A>T	XP_024307643.1:p.Lys215Ter
XR_002958471.1:n.1527A>T
NM_000516.6:c.820A>T	NP_000507.1:p.Lys274Ter
NM_001077488.4:c.823A>T	NP_001070956.1:p.Lys275Ter
NM_001077489.4:c.775A>T	NP_001070957.1:p.Lys259Ter
NM_001309840.2:c.643A>T	NP_001296769.1:p.Lys215Ter
NM_001309861.2:c.643A>T	NP_001296790.1:p.Lys215Ter
NM_016592.4:c.*726A>T	NP_057676.1:n.*726A>T
NM_080426.4:c.778A>T	NP_536351.1:p.Lys260Ter
NM_000516.7:c.820A>T MANE Select	NP_000507.1:p.Lys274Ter
NM_001077488.5:c.823A>T	NP_001070956.1:p.Lys275Ter
NM_001077490.3:c.*681A>T	NP_001070958.1:n.*681A>T
NM_016592.5:c.*726A>T MANE Plus Clinical	NP_057676.1:n.*726A>T
NM_080425.4:c.2749A>T MANE Plus Clinical	NP_536350.2:p.Lys917Ter