Canonical Allele Identifier: CA409452596

Gene: GNAS

Linked Data

• MyVariant Identifiers: chr20:g.57484795G>C (hg19) ; chr20:g.58909740G>C (hg38)
• PubMed: PMID:28135719

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.58909740G>C , CM000682.2:g.58909740G>C	GRCh38
NC_000020.10:g.57484795G>C , CM000682.1:g.57484795G>C	GRCh37
NC_000020.9:g.56918190G>C	NCBI36
NG_016194.1:g.75001G>C
NG_016194.2:g.75001G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349036.9:c.2659G>C	ENSP00000265621.6:p.Glu887Gln
ENST00000419558.7:c.*633G>C	ENSP00000416234.2:n.*633G>C
ENST00000453292.7:c.1374G>C	ENSP00000392000.2:n.1374G>C
ENST00000462499.6:c.556G>C	ENSP00000499758.2:p.Glu186Gln
ENST00000464624.7:c.*617G>C	ENSP00000499607.2:n.*617G>C
ENST00000464788.6:c.598G>C	ENSP00000499239.2:p.Glu200Gln
ENST00000467227.6:c.556G>C	ENSP00000499681.2:p.Glu186Gln
ENST00000467321.6:c.598G>C	ENSP00000499523.2:p.Glu200Gln
ENST00000468895.6:c.775G>C	ENSP00000499551.2:p.Glu259Gln
ENST00000469431.6:c.598G>C	ENSP00000499654.2:p.Glu200Gln
ENST00000470512.6:c.601G>C	ENSP00000499552.2:p.Glu201Gln
ENST00000472183.6:c.598G>C	ENSP00000499673.2:p.Glu200Gln
ENST00000475610.2:n.1281G>C
ENST00000476935.6:c.553G>C	ENSP00000499409.2:p.Glu185Gln
ENST00000478585.6:c.556G>C	ENSP00000499762.2:p.Glu186Gln
ENST00000480232.6:c.601G>C	ENSP00000499545.2:p.Glu201Gln
ENST00000481039.6:c.556G>C	ENSP00000499767.2:p.Glu186Gln
ENST00000482112.6:c.553G>C	ENSP00000499794.2:p.Glu185Gln
ENST00000485673.6:c.556G>C	ENSP00000499334.2:p.Glu186Gln
ENST00000488546.6:c.556G>C	ENSP00000499332.2:p.Glu186Gln
ENST00000488652.6:c.598G>C	ENSP00000499435.2:p.Glu200Gln
ENST00000492907.6:c.556G>C	ENSP00000499443.2:p.Glu186Gln
ENST00000603546.2:c.598G>C	ENSP00000474802.2:p.Glu200Gln
ENST00000604005.6:c.598G>C	ENSP00000474219.2:p.Glu200Gln
ENST00000663479.2:c.601G>C	ENSP00000499353.2:p.Glu201Gln
ENST00000667293.2:c.598G>C	ENSP00000499293.2:p.Glu200Gln
ENST00000676826.2:c.2707G>C	ENSP00000504675.2:p.Glu903Gln
ENST00000682092.1:n.5059G>C
ENST00000682134.1:n.2701G>C
ENST00000682411.1:n.2870G>C
ENST00000682590.1:n.4962G>C
ENST00000682680.1:n.4976G>C
ENST00000682803.1:c.448G>C	ENSP00000507069.1:p.Glu150Gln
ENST00000682829.1:n.3103G>C
ENST00000682917.1:n.1303G>C
ENST00000682986.1:n.5192G>C
ENST00000683015.1:c.1545G>C	ENSP00000506815.1:n.1545G>C
ENST00000683632.1:n.5305G>C
ENST00000683932.1:n.6551G>C
ENST00000684284.1:n.3153G>C
ENST00000684466.1:n.1414G>C
ENST00000684644.1:n.5095G>C
ENST00000684761.1:n.1268G>C
ENST00000306090.12:c.679G>C	ENSP00000304472.12:p.Glu227Gln
ENST00000354359.12:c.778G>C	ENSP00000346328.7:p.Glu260Gln
ENST00000371085.8:c.775G>C MANE Select	ENSP00000360126.3:p.Glu259Gln
ENST00000371100.9:c.2704G>C MANE Plus Clinical	ENSP00000360141.3:p.Glu902Gln
ENST00000656419.1:c.304G>C	ENSP00000499614.1:p.Glu102Gln
ENST00000657090.1:c.598G>C	ENSP00000499380.1:p.Glu200Gln
ENST00000667293.1:c.646G>C	ENSP00000499293.1:p.Glu216Gln
ENST00000265620.11:c.730G>C	ENSP00000265620.7:p.Glu244Gln
ENST00000306090.11:c.94-27G>C	ENSP00000304472.11:n.94-27G>C
ENST00000313949.11:c.*678G>C	ENSP00000323571.7:n.*678G>C
ENST00000354359.11:c.778G>C	ENSP00000346328.7:p.Glu260Gln
ENST00000371075.7:c.*681G>C MANE Plus Clinical	ENSP00000360115.3:n.*681G>C
ENST00000371085.7:c.775G>C	ENSP00000360126.3:p.Glu259Gln
ENST00000371095.7:c.733G>C	ENSP00000360136.3:p.Glu245Gln
ENST00000371100.8:c.2704G>C	ENSP00000360141.3:p.Glu902Gln
ENST00000371102.8:c.2662G>C	ENSP00000360143.4:p.Glu888Gln
ENST00000464624.6:n.2991G>C
ENST00000470512.5:n.849G>C
ENST00000476196.5:n.1068G>C
ENST00000476935.5:n.764G>C
ENST00000477931.5:n.890G>C
ENST00000480232.5:n.794G>C
ENST00000480975.5:n.774G>C
ENST00000481039.5:n.692G>C
ENST00000487862.5:n.1009G>C
ENST00000488546.5:n.634G>C
ENST00000488652.5:n.865G>C
ENST00000492907.5:n.726G>C
ENST00000493958.5:n.498G>C
ENST00000494081.5:n.330G>C
ENST00000496934.5:n.2064G>C
NM_000516.4:c.775G>C	NP_000507.1:p.Glu259Gln
NM_000516.5:c.775G>C	NP_000507.1:p.Glu259Gln
NM_001077488.2:c.778G>C	NP_001070956.1:p.Glu260Gln
NM_001077488.3:c.778G>C	NP_001070956.1:p.Glu260Gln
NM_001077489.2:c.730G>C	NP_001070957.1:p.Glu244Gln
NM_001077489.3:c.730G>C	NP_001070957.1:p.Glu244Gln
NM_001077490.1:c.*636G>C	NP_001070958.1:n.*636G>C
NM_001077490.2:c.*636G>C	NP_001070958.1:n.*636G>C
NM_001309840.1:c.598G>C	NP_001296769.1:p.Glu200Gln
NM_001309861.1:c.598G>C	NP_001296790.1:p.Glu200Gln
NM_016592.2:c.*681G>C	NP_057676.1:n.*681G>C
NM_016592.3:c.*681G>C	NP_057676.1:n.*681G>C
NM_080425.2:c.2704G>C	NP_536350.2:p.Glu902Gln
NM_080425.3:c.2704G>C	NP_536350.2:p.Glu902Gln
NM_080426.2:c.733G>C	NP_536351.1:p.Glu245Gln
NM_080426.3:c.733G>C	NP_536351.1:p.Glu245Gln
NR_003259.1:c.-4294966431G>C
XM_017027812.2:c.2707G>C	XP_016883301.1:p.Glu903Gln
XM_017027813.2:c.2662G>C	XP_016883302.1:p.Glu888Gln
XM_017027814.2:c.2659G>C	XP_016883303.1:p.Glu887Gln
XM_017027815.1:c.634G>C	XP_016883304.1:p.Glu212Gln
XM_017027816.1:c.553G>C	XP_016883305.1:p.Glu185Gln
XM_017027817.1:c.553G>C	XP_016883306.1:p.Glu185Gln
XM_017027818.2:c.553G>C	XP_016883307.1:p.Glu185Gln
XM_017027819.1:c.553G>C	XP_016883308.1:p.Glu185Gln
XM_017027820.1:c.553G>C	XP_016883309.1:p.Glu185Gln
XM_024451872.1:c.679G>C	XP_024307640.1:p.Glu227Gln
XM_024451873.1:c.598G>C	XP_024307641.1:p.Glu200Gln
XM_024451874.1:c.598G>C	XP_024307642.1:p.Glu200Gln
XM_024451875.1:c.598G>C	XP_024307643.1:p.Glu200Gln
XR_002958471.1:n.1482G>C
NM_000516.6:c.775G>C	NP_000507.1:p.Glu259Gln
NM_001077488.4:c.778G>C	NP_001070956.1:p.Glu260Gln
NM_001077489.4:c.730G>C	NP_001070957.1:p.Glu244Gln
NM_001309840.2:c.598G>C	NP_001296769.1:p.Glu200Gln
NM_001309861.2:c.598G>C	NP_001296790.1:p.Glu200Gln
NM_016592.4:c.*681G>C	NP_057676.1:n.*681G>C
NM_080426.4:c.733G>C	NP_536351.1:p.Glu245Gln
NM_000516.7:c.775G>C MANE Select	NP_000507.1:p.Glu259Gln
NM_001077488.5:c.778G>C	NP_001070956.1:p.Glu260Gln
NM_001077490.3:c.*636G>C	NP_001070958.1:n.*636G>C
NM_016592.5:c.*681G>C MANE Plus Clinical	NP_057676.1:n.*681G>C
NM_080425.4:c.2704G>C MANE Plus Clinical	NP_536350.2:p.Glu902Gln