Canonical Allele Identifier: CA409450326

Gene: GNAS

Linked Data

• MyVariant Identifiers: chr20:g.57478635A>C (hg19) ; chr20:g.58903580A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.58903580A>C , CM000682.2:g.58903580A>C	GRCh38
NC_000020.10:g.57478635A>C , CM000682.1:g.57478635A>C	GRCh37
NC_000020.9:g.56912030A>C	NCBI36
NG_016194.1:g.68841A>C
NG_016194.2:g.68841A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349036.9:c.2191A>C	ENSP00000265621.6:p.Ile731Leu
ENST00000419558.7:c.*165A>C	ENSP00000416234.2:n.*165A>C
ENST00000453292.7:c.906A>C	ENSP00000392000.2:n.906A>C
ENST00000462499.6:c.88A>C	ENSP00000499758.2:p.Ile30Leu
ENST00000464624.7:c.*149A>C	ENSP00000499607.2:n.*149A>C
ENST00000464788.6:c.130A>C	ENSP00000499239.2:p.Ile44Leu
ENST00000467227.6:c.88A>C	ENSP00000499681.2:p.Ile30Leu
ENST00000467321.6:c.130A>C	ENSP00000499523.2:p.Ile44Leu
ENST00000468895.6:c.307A>C	ENSP00000499551.2:p.Ile103Leu
ENST00000469431.6:c.130A>C	ENSP00000499654.2:p.Ile44Leu
ENST00000470512.6:c.133A>C	ENSP00000499552.2:p.Ile45Leu
ENST00000472183.6:c.130A>C	ENSP00000499673.2:p.Ile44Leu
ENST00000475610.2:n.813A>C
ENST00000476935.6:c.85A>C	ENSP00000499409.2:p.Ile29Leu
ENST00000478585.6:c.88A>C	ENSP00000499762.2:p.Ile30Leu
ENST00000480232.6:c.133A>C	ENSP00000499545.2:p.Ile45Leu
ENST00000481039.6:c.88A>C	ENSP00000499767.2:p.Ile30Leu
ENST00000482112.6:c.85A>C	ENSP00000499794.2:p.Ile29Leu
ENST00000485673.6:c.88A>C	ENSP00000499334.2:p.Ile30Leu
ENST00000488546.6:c.88A>C	ENSP00000499332.2:p.Ile30Leu
ENST00000488652.6:c.130A>C	ENSP00000499435.2:p.Ile44Leu
ENST00000492907.6:c.88A>C	ENSP00000499443.2:p.Ile30Leu
ENST00000603546.2:c.130A>C	ENSP00000474802.2:p.Ile44Leu
ENST00000604005.6:c.130A>C	ENSP00000474219.2:p.Ile44Leu
ENST00000663479.2:c.133A>C	ENSP00000499353.2:p.Ile45Leu
ENST00000667293.2:c.130A>C	ENSP00000499293.2:p.Ile44Leu
ENST00000676826.2:c.2239A>C	ENSP00000504675.2:p.Ile747Leu
ENST00000682092.1:n.813A>C
ENST00000682134.1:n.2233A>C
ENST00000682411.1:n.811A>C
ENST00000682590.1:n.813A>C
ENST00000682680.1:n.741A>C
ENST00000682803.1:c.-21A>C	ENSP00000507069.1:n.-21A>C
ENST00000682829.1:n.2635A>C
ENST00000682917.1:n.749A>C
ENST00000682986.1:n.813A>C
ENST00000683015.1:c.1077A>C	ENSP00000506815.1:n.1077A>C
ENST00000683632.1:n.822A>C
ENST00000683932.1:n.811A>C
ENST00000684284.1:n.2685A>C
ENST00000684466.1:n.813A>C
ENST00000684644.1:n.813A>C
ENST00000684761.1:n.813A>C
ENST00000306090.12:c.211A>C	ENSP00000304472.12:p.Ile71Leu
ENST00000349036.8:c.2191A>C	ENSP00000265621.5:p.Ile731Leu
ENST00000354359.12:c.310A>C	ENSP00000346328.7:p.Ile104Leu
ENST00000371085.8:c.307A>C MANE Select	ENSP00000360126.3:p.Ile103Leu
ENST00000371100.9:c.2236A>C MANE Plus Clinical	ENSP00000360141.3:p.Ile746Leu
ENST00000419558.6:c.*165A>C	ENSP00000416234.2:n.*165A>C
ENST00000461152.6:c.1035A>C	ENSP00000499274.1:n.1035A>C
ENST00000490374.6:n.472A>C
ENST00000657090.1:c.130A>C	ENSP00000499380.1:p.Ile44Leu
ENST00000663479.1:c.133A>C	ENSP00000499353.1:p.Ile45Leu
ENST00000667293.1:c.178A>C	ENSP00000499293.1:p.Ile60Leu
ENST00000676826.1:c.2239A>C	ENSP00000504675.1:p.Ile747Leu
ENST00000265620.11:c.262A>C	ENSP00000265620.7:p.Ile88Leu
ENST00000306090.11:c.94-6187A>C	ENSP00000304472.11:n.94-6187A>C
ENST00000313949.11:c.*210A>C	ENSP00000323571.7:n.*210A>C
ENST00000349036.7:c.358A>C	ENSP00000265621.4:p.Ile120Leu
ENST00000354359.11:c.310A>C	ENSP00000346328.7:p.Ile104Leu
ENST00000371075.7:c.*213A>C MANE Plus Clinical	ENSP00000360115.3:n.*213A>C
ENST00000371085.7:c.307A>C	ENSP00000360126.3:p.Ile103Leu
ENST00000371095.7:c.265A>C	ENSP00000360136.3:p.Ile89Leu
ENST00000371100.8:c.2236A>C	ENSP00000360141.3:p.Ile746Leu
ENST00000371102.8:c.2194A>C	ENSP00000360143.4:p.Ile732Leu
ENST00000419558.5:c.506A>C
ENST00000450130.5:c.350A>C
ENST00000461152.5:n.273A>C
ENST00000462499.5:n.384A>C
ENST00000464624.6:n.2523A>C
ENST00000464788.5:n.235A>C
ENST00000467227.5:n.248A>C
ENST00000467321.5:n.322A>C
ENST00000468895.5:n.176A>C
ENST00000469431.5:n.424A>C
ENST00000470512.5:n.381A>C
ENST00000472183.5:n.559A>C
ENST00000476196.5:n.600A>C
ENST00000476935.5:n.296A>C
ENST00000477931.5:n.422A>C
ENST00000478585.5:n.320A>C
ENST00000480232.5:n.326A>C
ENST00000480975.5:n.306A>C
ENST00000481039.5:n.224A>C
ENST00000482112.5:n.381A>C
ENST00000485673.5:n.552A>C
ENST00000487862.5:n.541A>C
ENST00000487981.5:n.44A>C
ENST00000488546.5:n.166A>C
ENST00000488652.5:n.397A>C
ENST00000490374.5:n.425A>C
ENST00000492907.5:n.258A>C
ENST00000494081.5:n.50A>C
ENST00000496934.5:n.1596A>C
ENST00000603546.1:c.130A>C	ENSP00000474802.1:p.Ile44Leu
ENST00000604005.5:c.130A>C	ENSP00000474219.1:p.Ile44Leu
NM_000516.4:c.307A>C	NP_000507.1:p.Ile103Leu
NM_000516.5:c.307A>C	NP_000507.1:p.Ile103Leu
NM_001077488.2:c.310A>C	NP_001070956.1:p.Ile104Leu
NM_001077488.3:c.310A>C	NP_001070956.1:p.Ile104Leu
NM_001077489.2:c.262A>C	NP_001070957.1:p.Ile88Leu
NM_001077489.3:c.262A>C	NP_001070957.1:p.Ile88Leu
NM_001077490.1:c.*168A>C	NP_001070958.1:n.*168A>C
NM_001077490.2:c.*168A>C	NP_001070958.1:n.*168A>C
NM_001309840.1:c.130A>C	NP_001296769.1:p.Ile44Leu
NM_001309861.1:c.130A>C	NP_001296790.1:p.Ile44Leu
NM_016592.2:c.*213A>C	NP_057676.1:n.*213A>C
NM_016592.3:c.*213A>C	NP_057676.1:n.*213A>C
NM_080425.2:c.2236A>C	NP_536350.2:p.Ile746Leu
NM_080425.3:c.2236A>C	NP_536350.2:p.Ile746Leu
NM_080426.2:c.265A>C	NP_536351.1:p.Ile89Leu
NM_080426.3:c.265A>C	NP_536351.1:p.Ile89Leu
NR_003259.1:c.-4294966899A>C
XM_017027812.2:c.2239A>C	XP_016883301.1:p.Ile747Leu
XM_017027813.2:c.2194A>C	XP_016883302.1:p.Ile732Leu
XM_017027814.2:c.2191A>C	XP_016883303.1:p.Ile731Leu
XM_017027815.1:c.166A>C	XP_016883304.1:p.Ile56Leu
XM_017027816.1:c.85A>C	XP_016883305.1:p.Ile29Leu
XM_017027817.1:c.85A>C	XP_016883306.1:p.Ile29Leu
XM_017027818.2:c.85A>C	XP_016883307.1:p.Ile29Leu
XM_017027819.1:c.85A>C	XP_016883308.1:p.Ile29Leu
XM_017027820.1:c.85A>C	XP_016883309.1:p.Ile29Leu
XM_017027821.1:c.*210A>C	XP_016883310.1:n.*210A>C
XM_017027822.1:c.*165A>C	XP_016883311.1:n.*165A>C
XM_024451872.1:c.211A>C	XP_024307640.1:p.Ile71Leu
XM_024451873.1:c.130A>C	XP_024307641.1:p.Ile44Leu
XM_024451874.1:c.130A>C	XP_024307642.1:p.Ile44Leu
XM_024451875.1:c.130A>C	XP_024307643.1:p.Ile44Leu
XR_002958471.1:n.1014A>C
NM_000516.6:c.307A>C	NP_000507.1:p.Ile103Leu
NM_001077488.4:c.310A>C	NP_001070956.1:p.Ile104Leu
NM_001077489.4:c.262A>C	NP_001070957.1:p.Ile88Leu
NM_001309840.2:c.130A>C	NP_001296769.1:p.Ile44Leu
NM_001309861.2:c.130A>C	NP_001296790.1:p.Ile44Leu
NM_016592.4:c.*213A>C	NP_057676.1:n.*213A>C
NM_080426.4:c.265A>C	NP_536351.1:p.Ile89Leu
NM_000516.7:c.307A>C MANE Select	NP_000507.1:p.Ile103Leu
NM_001077488.5:c.310A>C	NP_001070956.1:p.Ile104Leu
NM_001077490.3:c.*168A>C	NP_001070958.1:n.*168A>C
NM_016592.5:c.*213A>C MANE Plus Clinical	NP_057676.1:n.*213A>C
NM_080425.4:c.2236A>C MANE Plus Clinical	NP_536350.2:p.Ile746Leu