Canonical Allele Identifier: CA511087401

Gene: GNAS

Linked Data

• gnomAD v4: 20-58909761-C-T
• MyVariant Identifiers: chr20:g.57484816C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.58909761C>T , CM000682.2:g.58909761C>T	GRCh38
NC_000020.10:g.57484816C>T , CM000682.1:g.57484816C>T	GRCh37
NC_000020.9:g.56918211C>T	NCBI36
NG_016194.1:g.75022C>T
NG_016194.2:g.75022C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349036.9:c.2680C>T	ENSP00000265621.6:p.Leu894=
ENST00000419558.7:c.*654C>T	ENSP00000416234.2:n.*654C>T
ENST00000453292.7:c.1395C>T	ENSP00000392000.2:n.1395C>T
ENST00000462499.6:c.577C>T	ENSP00000499758.2:p.Leu193=
ENST00000464624.7:c.*638C>T	ENSP00000499607.2:n.*638C>T
ENST00000464788.6:c.619C>T	ENSP00000499239.2:p.Leu207=
ENST00000467227.6:c.577C>T	ENSP00000499681.2:p.Leu193=
ENST00000467321.6:c.619C>T	ENSP00000499523.2:p.Leu207=
ENST00000468895.6:c.796C>T	ENSP00000499551.2:p.Leu266=
ENST00000469431.6:c.619C>T	ENSP00000499654.2:p.Leu207=
ENST00000470512.6:c.622C>T	ENSP00000499552.2:p.Leu208=
ENST00000472183.6:c.619C>T	ENSP00000499673.2:p.Leu207=
ENST00000475610.2:n.1302C>T
ENST00000476935.6:c.574C>T	ENSP00000499409.2:p.Leu192=
ENST00000478585.6:c.577C>T	ENSP00000499762.2:p.Leu193=
ENST00000480232.6:c.622C>T	ENSP00000499545.2:p.Leu208=
ENST00000481039.6:c.577C>T	ENSP00000499767.2:p.Leu193=
ENST00000482112.6:c.574C>T	ENSP00000499794.2:p.Leu192=
ENST00000485673.6:c.577C>T	ENSP00000499334.2:p.Leu193=
ENST00000488546.6:c.577C>T	ENSP00000499332.2:p.Leu193=
ENST00000488652.6:c.619C>T	ENSP00000499435.2:p.Leu207=
ENST00000492907.6:c.577C>T	ENSP00000499443.2:p.Leu193=
ENST00000603546.2:c.619C>T	ENSP00000474802.2:p.Leu207=
ENST00000604005.6:c.619C>T	ENSP00000474219.2:p.Leu207=
ENST00000663479.2:c.622C>T	ENSP00000499353.2:p.Leu208=
ENST00000667293.2:c.619C>T	ENSP00000499293.2:p.Leu207=
ENST00000676826.2:c.2728C>T	ENSP00000504675.2:p.Leu910=
ENST00000682092.1:n.5080C>T
ENST00000682134.1:n.2722C>T
ENST00000682411.1:n.2891C>T
ENST00000682590.1:n.4983C>T
ENST00000682680.1:n.4997C>T
ENST00000682803.1:c.469C>T	ENSP00000507069.1:p.Leu157=
ENST00000682829.1:n.3124C>T
ENST00000682917.1:n.1324C>T
ENST00000682986.1:n.5213C>T
ENST00000683015.1:c.1566C>T	ENSP00000506815.1:n.1566C>T
ENST00000683632.1:n.5326C>T
ENST00000683932.1:n.6572C>T
ENST00000684284.1:n.3174C>T
ENST00000684466.1:n.1435C>T
ENST00000684644.1:n.5116C>T
ENST00000684761.1:n.1289C>T
ENST00000306090.12:c.700C>T	ENSP00000304472.12:p.Leu234=
ENST00000354359.12:c.799C>T	ENSP00000346328.7:p.Leu267=
ENST00000371085.8:c.796C>T MANE Select	ENSP00000360126.3:p.Leu266=
ENST00000371100.9:c.2725C>T MANE Plus Clinical	ENSP00000360141.3:p.Leu909=
ENST00000656419.1:c.325C>T	ENSP00000499614.1:p.Leu109=
ENST00000657090.1:c.619C>T	ENSP00000499380.1:p.Leu207=
ENST00000667293.1:c.667C>T	ENSP00000499293.1:p.Leu223=
ENST00000265620.11:c.751C>T	ENSP00000265620.7:p.Leu251=
ENST00000306090.11:c.94-6C>T	ENSP00000304472.11:n.94-6C>T
ENST00000313949.11:c.*699C>T	ENSP00000323571.7:n.*699C>T
ENST00000354359.11:c.799C>T	ENSP00000346328.7:p.Leu267=
ENST00000371075.7:c.*702C>T MANE Plus Clinical	ENSP00000360115.3:n.*702C>T
ENST00000371085.7:c.796C>T	ENSP00000360126.3:p.Leu266=
ENST00000371095.7:c.754C>T	ENSP00000360136.3:p.Leu252=
ENST00000371100.8:c.2725C>T	ENSP00000360141.3:p.Leu909=
ENST00000371102.8:c.2683C>T	ENSP00000360143.4:p.Leu895=
ENST00000464624.6:n.3012C>T
ENST00000470512.5:n.870C>T
ENST00000476196.5:n.1089C>T
ENST00000476935.5:n.785C>T
ENST00000477931.5:n.911C>T
ENST00000480232.5:n.815C>T
ENST00000480975.5:n.795C>T
ENST00000481039.5:n.713C>T
ENST00000487862.5:n.1030C>T
ENST00000488546.5:n.655C>T
ENST00000488652.5:n.886C>T
ENST00000492907.5:n.747C>T
ENST00000493958.5:n.519C>T
ENST00000494081.5:n.351C>T
ENST00000496934.5:n.2085C>T
NM_000516.4:c.796C>T	NP_000507.1:p.Leu266=
NM_000516.5:c.796C>T	NP_000507.1:p.Leu266=
NM_001077488.2:c.799C>T	NP_001070956.1:p.Leu267=
NM_001077488.3:c.799C>T	NP_001070956.1:p.Leu267=
NM_001077489.2:c.751C>T	NP_001070957.1:p.Leu251=
NM_001077489.3:c.751C>T	NP_001070957.1:p.Leu251=
NM_001077490.1:c.*657C>T	NP_001070958.1:n.*657C>T
NM_001077490.2:c.*657C>T	NP_001070958.1:n.*657C>T
NM_001309840.1:c.619C>T	NP_001296769.1:p.Leu207=
NM_001309861.1:c.619C>T	NP_001296790.1:p.Leu207=
NM_016592.2:c.*702C>T	NP_057676.1:n.*702C>T
NM_016592.3:c.*702C>T	NP_057676.1:n.*702C>T
NM_080425.2:c.2725C>T	NP_536350.2:p.Leu909=
NM_080425.3:c.2725C>T	NP_536350.2:p.Leu909=
NM_080426.2:c.754C>T	NP_536351.1:p.Leu252=
NM_080426.3:c.754C>T	NP_536351.1:p.Leu252=
NR_003259.1:c.-4294966410C>T
XM_017027812.2:c.2728C>T	XP_016883301.1:p.Leu910=
XM_017027813.2:c.2683C>T	XP_016883302.1:p.Leu895=
XM_017027814.2:c.2680C>T	XP_016883303.1:p.Leu894=
XM_017027815.1:c.655C>T	XP_016883304.1:p.Leu219=
XM_017027816.1:c.574C>T	XP_016883305.1:p.Leu192=
XM_017027817.1:c.574C>T	XP_016883306.1:p.Leu192=
XM_017027818.2:c.574C>T	XP_016883307.1:p.Leu192=
XM_017027819.1:c.574C>T	XP_016883308.1:p.Leu192=
XM_017027820.1:c.574C>T	XP_016883309.1:p.Leu192=
XM_024451872.1:c.700C>T	XP_024307640.1:p.Leu234=
XM_024451873.1:c.619C>T	XP_024307641.1:p.Leu207=
XM_024451874.1:c.619C>T	XP_024307642.1:p.Leu207=
XM_024451875.1:c.619C>T	XP_024307643.1:p.Leu207=
XR_002958471.1:n.1503C>T
NM_000516.6:c.796C>T	NP_000507.1:p.Leu266=
NM_001077488.4:c.799C>T	NP_001070956.1:p.Leu267=
NM_001077489.4:c.751C>T	NP_001070957.1:p.Leu251=
NM_001309840.2:c.619C>T	NP_001296769.1:p.Leu207=
NM_001309861.2:c.619C>T	NP_001296790.1:p.Leu207=
NM_016592.4:c.*702C>T	NP_057676.1:n.*702C>T
NM_080426.4:c.754C>T	NP_536351.1:p.Leu252=
NM_000516.7:c.796C>T MANE Select	NP_000507.1:p.Leu266=
NM_001077488.5:c.799C>T	NP_001070956.1:p.Leu267=
NM_001077490.3:c.*657C>T	NP_001070958.1:n.*657C>T
NM_016592.5:c.*702C>T MANE Plus Clinical	NP_057676.1:n.*702C>T
NM_080425.4:c.2725C>T MANE Plus Clinical	NP_536350.2:p.Leu909=