Canonical Allele Identifier: CA409452807

Gene: GNAS

Linked Data

• MyVariant Identifiers: chr20:g.57484851G>C (hg19) ; chr20:g.58909796G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.58909796G>C , CM000682.2:g.58909796G>C	GRCh38
NC_000020.10:g.57484851G>C , CM000682.1:g.57484851G>C	GRCh37
NC_000020.9:g.56918246G>C	NCBI36
NG_016194.1:g.75057G>C
NG_016194.2:g.75057G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349036.9:c.2715G>C	ENSP00000265621.6:p.Trp905Cys
ENST00000419558.7:c.*689G>C	ENSP00000416234.2:n.*689G>C
ENST00000453292.7:c.1430G>C	ENSP00000392000.2:n.1430G>C
ENST00000462499.6:c.612G>C	ENSP00000499758.2:p.Trp204Cys
ENST00000464624.7:c.*673G>C	ENSP00000499607.2:n.*673G>C
ENST00000464788.6:c.654G>C	ENSP00000499239.2:p.Trp218Cys
ENST00000467227.6:c.612G>C	ENSP00000499681.2:p.Trp204Cys
ENST00000467321.6:c.654G>C	ENSP00000499523.2:p.Trp218Cys
ENST00000468895.6:c.831G>C	ENSP00000499551.2:p.Trp277Cys
ENST00000469431.6:c.654G>C	ENSP00000499654.2:p.Trp218Cys
ENST00000470512.6:c.657G>C	ENSP00000499552.2:p.Trp219Cys
ENST00000472183.6:c.654G>C	ENSP00000499673.2:p.Trp218Cys
ENST00000475610.2:n.1337G>C
ENST00000476935.6:c.609G>C	ENSP00000499409.2:p.Trp203Cys
ENST00000478585.6:c.612G>C	ENSP00000499762.2:p.Trp204Cys
ENST00000480232.6:c.657G>C	ENSP00000499545.2:p.Trp219Cys
ENST00000481039.6:c.612G>C	ENSP00000499767.2:p.Trp204Cys
ENST00000482112.6:c.609G>C	ENSP00000499794.2:p.Trp203Cys
ENST00000485673.6:c.612G>C	ENSP00000499334.2:p.Trp204Cys
ENST00000488546.6:c.612G>C	ENSP00000499332.2:p.Trp204Cys
ENST00000488652.6:c.654G>C	ENSP00000499435.2:p.Trp218Cys
ENST00000492907.6:c.612G>C	ENSP00000499443.2:p.Trp204Cys
ENST00000603546.2:c.654G>C	ENSP00000474802.2:p.Trp218Cys
ENST00000604005.6:c.654G>C	ENSP00000474219.2:p.Trp218Cys
ENST00000663479.2:c.657G>C	ENSP00000499353.2:p.Trp219Cys
ENST00000667293.2:c.654G>C	ENSP00000499293.2:p.Trp218Cys
ENST00000676826.2:c.2763G>C	ENSP00000504675.2:p.Trp921Cys
ENST00000682092.1:n.5115G>C
ENST00000682134.1:n.2757G>C
ENST00000682411.1:n.2926G>C
ENST00000682590.1:n.5018G>C
ENST00000682680.1:n.5032G>C
ENST00000682803.1:c.504G>C	ENSP00000507069.1:p.Trp168Cys
ENST00000682829.1:n.3159G>C
ENST00000682917.1:n.1359G>C
ENST00000682986.1:n.5248G>C
ENST00000683015.1:c.1601G>C	ENSP00000506815.1:n.1601G>C
ENST00000683632.1:n.5361G>C
ENST00000683932.1:n.6607G>C
ENST00000684284.1:n.3209G>C
ENST00000684466.1:n.1470G>C
ENST00000684644.1:n.5151G>C
ENST00000684761.1:n.1324G>C
ENST00000306090.12:c.735G>C	ENSP00000304472.12:p.Trp245Cys
ENST00000354359.12:c.834G>C	ENSP00000346328.7:p.Trp278Cys
ENST00000371085.8:c.831G>C MANE Select	ENSP00000360126.3:p.Trp277Cys
ENST00000371100.9:c.2760G>C MANE Plus Clinical	ENSP00000360141.3:p.Trp920Cys
ENST00000656419.1:c.360G>C	ENSP00000499614.1:p.Trp120Cys
ENST00000657090.1:c.654G>C	ENSP00000499380.1:p.Trp218Cys
ENST00000667293.1:c.702G>C	ENSP00000499293.1:p.Trp234Cys
ENST00000265620.11:c.786G>C	ENSP00000265620.7:p.Trp262Cys
ENST00000306090.11:c.123G>C	ENSP00000304472.11:p.Trp41Cys
ENST00000313949.11:c.*734G>C	ENSP00000323571.7:n.*734G>C
ENST00000354359.11:c.834G>C	ENSP00000346328.7:p.Trp278Cys
ENST00000371075.7:c.*737G>C MANE Plus Clinical	ENSP00000360115.3:n.*737G>C
ENST00000371085.7:c.831G>C	ENSP00000360126.3:p.Trp277Cys
ENST00000371095.7:c.789G>C	ENSP00000360136.3:p.Trp263Cys
ENST00000371100.8:c.2760G>C	ENSP00000360141.3:p.Trp920Cys
ENST00000371102.8:c.2718G>C	ENSP00000360143.4:p.Trp906Cys
ENST00000464624.6:n.3047G>C
ENST00000470512.5:n.905G>C
ENST00000476196.5:n.1124G>C
ENST00000476935.5:n.820G>C
ENST00000477931.5:n.946G>C
ENST00000480232.5:n.850G>C
ENST00000480975.5:n.830G>C
ENST00000481039.5:n.748G>C
ENST00000487862.5:n.1065G>C
ENST00000488546.5:n.690G>C
ENST00000488652.5:n.921G>C
ENST00000492907.5:n.782G>C
ENST00000494081.5:n.386G>C
ENST00000496934.5:n.2120G>C
NM_000516.4:c.831G>C	NP_000507.1:p.Trp277Cys
NM_000516.5:c.831G>C	NP_000507.1:p.Trp277Cys
NM_001077488.2:c.834G>C	NP_001070956.1:p.Trp278Cys
NM_001077488.3:c.834G>C	NP_001070956.1:p.Trp278Cys
NM_001077489.2:c.786G>C	NP_001070957.1:p.Trp262Cys
NM_001077489.3:c.786G>C	NP_001070957.1:p.Trp262Cys
NM_001077490.1:c.*692G>C	NP_001070958.1:n.*692G>C
NM_001077490.2:c.*692G>C	NP_001070958.1:n.*692G>C
NM_001309840.1:c.654G>C	NP_001296769.1:p.Trp218Cys
NM_001309861.1:c.654G>C	NP_001296790.1:p.Trp218Cys
NM_016592.2:c.*737G>C	NP_057676.1:n.*737G>C
NM_016592.3:c.*737G>C	NP_057676.1:n.*737G>C
NM_080425.2:c.2760G>C	NP_536350.2:p.Trp920Cys
NM_080425.3:c.2760G>C	NP_536350.2:p.Trp920Cys
NM_080426.2:c.789G>C	NP_536351.1:p.Trp263Cys
NM_080426.3:c.789G>C	NP_536351.1:p.Trp263Cys
NR_003259.1:c.-4294966375G>C
XM_017027812.2:c.2763G>C	XP_016883301.1:p.Trp921Cys
XM_017027813.2:c.2718G>C	XP_016883302.1:p.Trp906Cys
XM_017027814.2:c.2715G>C	XP_016883303.1:p.Trp905Cys
XM_017027815.1:c.690G>C	XP_016883304.1:p.Trp230Cys
XM_017027816.1:c.609G>C	XP_016883305.1:p.Trp203Cys
XM_017027817.1:c.609G>C	XP_016883306.1:p.Trp203Cys
XM_017027818.2:c.609G>C	XP_016883307.1:p.Trp203Cys
XM_017027819.1:c.609G>C	XP_016883308.1:p.Trp203Cys
XM_017027820.1:c.609G>C	XP_016883309.1:p.Trp203Cys
XM_024451872.1:c.735G>C	XP_024307640.1:p.Trp245Cys
XM_024451873.1:c.654G>C	XP_024307641.1:p.Trp218Cys
XM_024451874.1:c.654G>C	XP_024307642.1:p.Trp218Cys
XM_024451875.1:c.654G>C	XP_024307643.1:p.Trp218Cys
XR_002958471.1:n.1538G>C
NM_000516.6:c.831G>C	NP_000507.1:p.Trp277Cys
NM_001077488.4:c.834G>C	NP_001070956.1:p.Trp278Cys
NM_001077489.4:c.786G>C	NP_001070957.1:p.Trp262Cys
NM_001309840.2:c.654G>C	NP_001296769.1:p.Trp218Cys
NM_001309861.2:c.654G>C	NP_001296790.1:p.Trp218Cys
NM_016592.4:c.*737G>C	NP_057676.1:n.*737G>C
NM_080426.4:c.789G>C	NP_536351.1:p.Trp263Cys
NM_000516.7:c.831G>C MANE Select	NP_000507.1:p.Trp277Cys
NM_001077488.5:c.834G>C	NP_001070956.1:p.Trp278Cys
NM_001077490.3:c.*692G>C	NP_001070958.1:n.*692G>C
NM_016592.5:c.*737G>C MANE Plus Clinical	NP_057676.1:n.*737G>C
NM_080425.4:c.2760G>C MANE Plus Clinical	NP_536350.2:p.Trp920Cys