Canonical Allele Identifier: CA409452748

Gene: GNAS

Linked Data

• MyVariant Identifiers: chr20:g.57484835T>C (hg19) ; chr20:g.58909780T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.58909780T>C , CM000682.2:g.58909780T>C	GRCh38
NC_000020.10:g.57484835T>C , CM000682.1:g.57484835T>C	GRCh37
NC_000020.9:g.56918230T>C	NCBI36
NG_016194.1:g.75041T>C
NG_016194.2:g.75041T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349036.9:c.2699T>C	ENSP00000265621.6:p.Leu900Pro
ENST00000419558.7:c.*673T>C	ENSP00000416234.2:n.*673T>C
ENST00000453292.7:c.1414T>C	ENSP00000392000.2:n.1414T>C
ENST00000462499.6:c.596T>C	ENSP00000499758.2:p.Leu199Pro
ENST00000464624.7:c.*657T>C	ENSP00000499607.2:n.*657T>C
ENST00000464788.6:c.638T>C	ENSP00000499239.2:p.Leu213Pro
ENST00000467227.6:c.596T>C	ENSP00000499681.2:p.Leu199Pro
ENST00000467321.6:c.638T>C	ENSP00000499523.2:p.Leu213Pro
ENST00000468895.6:c.815T>C	ENSP00000499551.2:p.Leu272Pro
ENST00000469431.6:c.638T>C	ENSP00000499654.2:p.Leu213Pro
ENST00000470512.6:c.641T>C	ENSP00000499552.2:p.Leu214Pro
ENST00000472183.6:c.638T>C	ENSP00000499673.2:p.Leu213Pro
ENST00000475610.2:n.1321T>C
ENST00000476935.6:c.593T>C	ENSP00000499409.2:p.Leu198Pro
ENST00000478585.6:c.596T>C	ENSP00000499762.2:p.Leu199Pro
ENST00000480232.6:c.641T>C	ENSP00000499545.2:p.Leu214Pro
ENST00000481039.6:c.596T>C	ENSP00000499767.2:p.Leu199Pro
ENST00000482112.6:c.593T>C	ENSP00000499794.2:p.Leu198Pro
ENST00000485673.6:c.596T>C	ENSP00000499334.2:p.Leu199Pro
ENST00000488546.6:c.596T>C	ENSP00000499332.2:p.Leu199Pro
ENST00000488652.6:c.638T>C	ENSP00000499435.2:p.Leu213Pro
ENST00000492907.6:c.596T>C	ENSP00000499443.2:p.Leu199Pro
ENST00000603546.2:c.638T>C	ENSP00000474802.2:p.Leu213Pro
ENST00000604005.6:c.638T>C	ENSP00000474219.2:p.Leu213Pro
ENST00000663479.2:c.641T>C	ENSP00000499353.2:p.Leu214Pro
ENST00000667293.2:c.638T>C	ENSP00000499293.2:p.Leu213Pro
ENST00000676826.2:c.2747T>C	ENSP00000504675.2:p.Leu916Pro
ENST00000682092.1:n.5099T>C
ENST00000682134.1:n.2741T>C
ENST00000682411.1:n.2910T>C
ENST00000682590.1:n.5002T>C
ENST00000682680.1:n.5016T>C
ENST00000682803.1:c.488T>C	ENSP00000507069.1:p.Leu163Pro
ENST00000682829.1:n.3143T>C
ENST00000682917.1:n.1343T>C
ENST00000682986.1:n.5232T>C
ENST00000683015.1:c.1585T>C	ENSP00000506815.1:n.1585T>C
ENST00000683632.1:n.5345T>C
ENST00000683932.1:n.6591T>C
ENST00000684284.1:n.3193T>C
ENST00000684466.1:n.1454T>C
ENST00000684644.1:n.5135T>C
ENST00000684761.1:n.1308T>C
ENST00000306090.12:c.719T>C	ENSP00000304472.12:p.Leu240Pro
ENST00000354359.12:c.818T>C	ENSP00000346328.7:p.Leu273Pro
ENST00000371085.8:c.815T>C MANE Select	ENSP00000360126.3:p.Leu272Pro
ENST00000371100.9:c.2744T>C MANE Plus Clinical	ENSP00000360141.3:p.Leu915Pro
ENST00000656419.1:c.344T>C	ENSP00000499614.1:p.Leu115Pro
ENST00000657090.1:c.638T>C	ENSP00000499380.1:p.Leu213Pro
ENST00000667293.1:c.686T>C	ENSP00000499293.1:p.Leu229Pro
ENST00000265620.11:c.770T>C	ENSP00000265620.7:p.Leu257Pro
ENST00000306090.11:c.107T>C	ENSP00000304472.11:p.Leu36Pro
ENST00000313949.11:c.*718T>C	ENSP00000323571.7:n.*718T>C
ENST00000354359.11:c.818T>C	ENSP00000346328.7:p.Leu273Pro
ENST00000371075.7:c.*721T>C MANE Plus Clinical	ENSP00000360115.3:n.*721T>C
ENST00000371085.7:c.815T>C	ENSP00000360126.3:p.Leu272Pro
ENST00000371095.7:c.773T>C	ENSP00000360136.3:p.Leu258Pro
ENST00000371100.8:c.2744T>C	ENSP00000360141.3:p.Leu915Pro
ENST00000371102.8:c.2702T>C	ENSP00000360143.4:p.Leu901Pro
ENST00000464624.6:n.3031T>C
ENST00000470512.5:n.889T>C
ENST00000476196.5:n.1108T>C
ENST00000476935.5:n.804T>C
ENST00000477931.5:n.930T>C
ENST00000480232.5:n.834T>C
ENST00000480975.5:n.814T>C
ENST00000481039.5:n.732T>C
ENST00000487862.5:n.1049T>C
ENST00000488546.5:n.674T>C
ENST00000488652.5:n.905T>C
ENST00000492907.5:n.766T>C
ENST00000494081.5:n.370T>C
ENST00000496934.5:n.2104T>C
NM_000516.4:c.815T>C	NP_000507.1:p.Leu272Pro
NM_000516.5:c.815T>C	NP_000507.1:p.Leu272Pro
NM_001077488.2:c.818T>C	NP_001070956.1:p.Leu273Pro
NM_001077488.3:c.818T>C	NP_001070956.1:p.Leu273Pro
NM_001077489.2:c.770T>C	NP_001070957.1:p.Leu257Pro
NM_001077489.3:c.770T>C	NP_001070957.1:p.Leu257Pro
NM_001077490.1:c.*676T>C	NP_001070958.1:n.*676T>C
NM_001077490.2:c.*676T>C	NP_001070958.1:n.*676T>C
NM_001309840.1:c.638T>C	NP_001296769.1:p.Leu213Pro
NM_001309861.1:c.638T>C	NP_001296790.1:p.Leu213Pro
NM_016592.2:c.*721T>C	NP_057676.1:n.*721T>C
NM_016592.3:c.*721T>C	NP_057676.1:n.*721T>C
NM_080425.2:c.2744T>C	NP_536350.2:p.Leu915Pro
NM_080425.3:c.2744T>C	NP_536350.2:p.Leu915Pro
NM_080426.2:c.773T>C	NP_536351.1:p.Leu258Pro
NM_080426.3:c.773T>C	NP_536351.1:p.Leu258Pro
NR_003259.1:c.-4294966391T>C
XM_017027812.2:c.2747T>C	XP_016883301.1:p.Leu916Pro
XM_017027813.2:c.2702T>C	XP_016883302.1:p.Leu901Pro
XM_017027814.2:c.2699T>C	XP_016883303.1:p.Leu900Pro
XM_017027815.1:c.674T>C	XP_016883304.1:p.Leu225Pro
XM_017027816.1:c.593T>C	XP_016883305.1:p.Leu198Pro
XM_017027817.1:c.593T>C	XP_016883306.1:p.Leu198Pro
XM_017027818.2:c.593T>C	XP_016883307.1:p.Leu198Pro
XM_017027819.1:c.593T>C	XP_016883308.1:p.Leu198Pro
XM_017027820.1:c.593T>C	XP_016883309.1:p.Leu198Pro
XM_024451872.1:c.719T>C	XP_024307640.1:p.Leu240Pro
XM_024451873.1:c.638T>C	XP_024307641.1:p.Leu213Pro
XM_024451874.1:c.638T>C	XP_024307642.1:p.Leu213Pro
XM_024451875.1:c.638T>C	XP_024307643.1:p.Leu213Pro
XR_002958471.1:n.1522T>C
NM_000516.6:c.815T>C	NP_000507.1:p.Leu272Pro
NM_001077488.4:c.818T>C	NP_001070956.1:p.Leu273Pro
NM_001077489.4:c.770T>C	NP_001070957.1:p.Leu257Pro
NM_001309840.2:c.638T>C	NP_001296769.1:p.Leu213Pro
NM_001309861.2:c.638T>C	NP_001296790.1:p.Leu213Pro
NM_016592.4:c.*721T>C	NP_057676.1:n.*721T>C
NM_080426.4:c.773T>C	NP_536351.1:p.Leu258Pro
NM_000516.7:c.815T>C MANE Select	NP_000507.1:p.Leu272Pro
NM_001077488.5:c.818T>C	NP_001070956.1:p.Leu273Pro
NM_001077490.3:c.*676T>C	NP_001070958.1:n.*676T>C
NM_016592.5:c.*721T>C MANE Plus Clinical	NP_057676.1:n.*721T>C
NM_080425.4:c.2744T>C MANE Plus Clinical	NP_536350.2:p.Leu915Pro