Canonical Allele Identifier: CA9927071
Community Standard Title: NM_000516.7(GNAS):c.366C>T (p.Pro122=)
Gene: GNAS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.58903725C>T , CM000682.2:g.58903725C>T GRCh38
NC_000020.10:g.57478780C>T , CM000682.1:g.57478780C>T GRCh37
NC_000020.9:g.56912175C>T NCBI36
NG_016194.1:g.68986C>T
NG_016194.2:g.68986C>T

Transcript Alleles

HGVS Amino-acid Change
NM_000516.7:c.366C>T MANE Select NP_000507.1:p.Pro122=
ENST00000371085.8:c.366C>T MANE Select ENSP00000360126.3:p.Pro122=
NM_016592.5:c.*272C>T MANE Plus Clinical NP_057676.1:n.*272C>T
NM_080425.4:c.2295C>T MANE Plus Clinical NP_536350.2:p.Pro765=
ENST00000371075.7:c.*272C>T MANE Plus Clinical ENSP00000360115.3:n.*272C>T
ENST00000371100.9:c.2295C>T MANE Plus Clinical ENSP00000360141.3:p.Pro765=
NM_000516.4:c.366C>T NP_000507.1:p.Pro122=
NM_000516.5:c.366C>T NP_000507.1:p.Pro122=
NM_000516.6:c.366C>T NP_000507.1:p.Pro122=
NM_001077488.2:c.369C>T NP_001070956.1:p.Pro123=
NM_001077488.3:c.369C>T NP_001070956.1:p.Pro123=
NM_001077488.4:c.369C>T NP_001070956.1:p.Pro123=
NM_001077488.5:c.369C>T NP_001070956.1:p.Pro123=
NM_001077489.2:c.321C>T NP_001070957.1:p.Pro107=
NM_001077489.3:c.321C>T NP_001070957.1:p.Pro107=
NM_001077489.4:c.321C>T NP_001070957.1:p.Pro107=
NM_001077490.1:c.*227C>T NP_001070958.1:n.*227C>T
NM_001077490.2:c.*227C>T NP_001070958.1:n.*227C>T
NM_001077490.3:c.*227C>T NP_001070958.1:n.*227C>T
NM_001309840.1:c.189C>T NP_001296769.1:p.Pro63=
NM_001309840.2:c.189C>T NP_001296769.1:p.Pro63=
NM_001309861.1:c.189C>T NP_001296790.1:p.Pro63=
NM_001309861.2:c.189C>T NP_001296790.1:p.Pro63=
NM_016592.2:c.*272C>T NP_057676.1:n.*272C>T
NM_016592.3:c.*272C>T NP_057676.1:n.*272C>T
NM_016592.4:c.*272C>T NP_057676.1:n.*272C>T
NM_080425.2:c.2295C>T NP_536350.2:p.Pro765=
NM_080425.3:c.2295C>T NP_536350.2:p.Pro765=
NM_080426.2:c.324C>T NP_536351.1:p.Pro108=
NM_080426.3:c.324C>T NP_536351.1:p.Pro108=
NM_080426.4:c.324C>T NP_536351.1:p.Pro108=
NR_003259.1:c.-4294966840C>T
ENST00000265620.11:c.321C>T ENSP00000265620.7:p.Pro107=
ENST00000306090.11:c.94-6042C>T ENSP00000304472.11:n.94-6042C>T
ENST00000306090.12:c.270C>T ENSP00000304472.12:p.Pro90=
ENST00000313949.11:c.*269C>T ENSP00000323571.7:n.*269C>T
ENST00000349036.7:c.417C>T ENSP00000265621.4:p.Pro139=
ENST00000349036.8:c.2250C>T ENSP00000265621.5:p.Pro750=
ENST00000349036.9:c.2250C>T ENSP00000265621.6:p.Pro750=
ENST00000354359.11:c.369C>T ENSP00000346328.7:p.Pro123=
ENST00000354359.12:c.369C>T ENSP00000346328.7:p.Pro123=
ENST00000371085.7:c.366C>T ENSP00000360126.3:p.Pro122=
ENST00000371095.7:c.324C>T ENSP00000360136.3:p.Pro108=
ENST00000371100.8:c.2295C>T ENSP00000360141.3:p.Pro765=
ENST00000371102.8:c.2253C>T ENSP00000360143.4:p.Pro751=
ENST00000419558.5:c.565C>T
ENST00000419558.6:c.*224C>T ENSP00000416234.2:n.*224C>T
ENST00000419558.7:c.*224C>T ENSP00000416234.2:n.*224C>T
ENST00000450130.5:c.409C>T
ENST00000453292.7:c.965C>T ENSP00000392000.2:n.965C>T
ENST00000462499.5:n.443C>T
ENST00000462499.6:c.147C>T ENSP00000499758.2:p.Pro49=
ENST00000464624.6:n.2582C>T
ENST00000464624.7:c.*208C>T ENSP00000499607.2:n.*208C>T
ENST00000464788.5:n.294C>T
ENST00000464788.6:c.189C>T ENSP00000499239.2:p.Pro63=
ENST00000467227.5:n.307C>T
ENST00000467227.6:c.147C>T ENSP00000499681.2:p.Pro49=
ENST00000467321.5:n.381C>T
ENST00000467321.6:c.189C>T ENSP00000499523.2:p.Pro63=
ENST00000468895.5:n.235C>T
ENST00000468895.6:c.366C>T ENSP00000499551.2:p.Pro122=
ENST00000469431.5:n.483C>T
ENST00000469431.6:c.189C>T ENSP00000499654.2:p.Pro63=
ENST00000470512.5:n.440C>T
ENST00000470512.6:c.192C>T ENSP00000499552.2:p.Pro64=
ENST00000472183.5:n.618C>T
ENST00000472183.6:c.189C>T ENSP00000499673.2:p.Pro63=
ENST00000475610.2:n.872C>T
ENST00000476196.5:n.659C>T
ENST00000476935.5:n.355C>T
ENST00000476935.6:c.144C>T ENSP00000499409.2:p.Pro48=
ENST00000477931.5:n.481C>T
ENST00000478585.5:n.379C>T
ENST00000478585.6:c.147C>T ENSP00000499762.2:p.Pro49=
ENST00000480232.5:n.385C>T
ENST00000480232.6:c.192C>T ENSP00000499545.2:p.Pro64=
ENST00000480975.5:n.365C>T
ENST00000481039.5:n.283C>T
ENST00000481039.6:c.147C>T ENSP00000499767.2:p.Pro49=
ENST00000482112.5:n.440C>T
ENST00000482112.6:c.144C>T ENSP00000499794.2:p.Pro48=
ENST00000485673.5:n.611C>T
ENST00000485673.6:c.147C>T ENSP00000499334.2:p.Pro49=
ENST00000487862.5:n.600C>T
ENST00000487981.5:n.103C>T
ENST00000488546.5:n.225C>T
ENST00000488546.6:c.147C>T ENSP00000499332.2:p.Pro49=
ENST00000488652.5:n.456C>T
ENST00000488652.6:c.189C>T ENSP00000499435.2:p.Pro63=
ENST00000490374.5:n.484C>T
ENST00000490374.6:n.531C>T
ENST00000492907.5:n.317C>T
ENST00000492907.6:c.147C>T ENSP00000499443.2:p.Pro49=
ENST00000494081.5:n.109C>T
ENST00000496934.5:n.1655C>T
ENST00000603546.1:c.189C>T ENSP00000474802.1:p.Pro63=
ENST00000603546.2:c.189C>T ENSP00000474802.2:p.Pro63=
ENST00000604005.5:c.189C>T ENSP00000474219.1:p.Pro63=
ENST00000604005.6:c.189C>T ENSP00000474219.2:p.Pro63=
ENST00000657090.1:c.189C>T ENSP00000499380.1:p.Pro63=
ENST00000663479.1:c.192C>T ENSP00000499353.1:p.Pro64=
ENST00000663479.2:c.192C>T ENSP00000499353.2:p.Pro64=
ENST00000667293.1:c.237C>T ENSP00000499293.1:p.Pro79=
ENST00000667293.2:c.189C>T ENSP00000499293.2:p.Pro63=
ENST00000676826.1:c.2298C>T ENSP00000504675.1:p.Pro766=
ENST00000676826.2:c.2298C>T ENSP00000504675.2:p.Pro766=
ENST00000682092.1:n.872C>T
ENST00000682134.1:n.2292C>T
ENST00000682411.1:n.870C>T
ENST00000682590.1:n.872C>T
ENST00000682680.1:n.886C>T
ENST00000682803.1:c.39C>T ENSP00000507069.1:p.Pro13=
ENST00000682829.1:n.2694C>T
ENST00000682917.1:n.894C>T
ENST00000682986.1:n.872C>T
ENST00000683015.1:c.1136C>T ENSP00000506815.1:n.1136C>T
ENST00000683632.1:n.881C>T
ENST00000683932.1:n.870C>T
ENST00000684284.1:n.2744C>T
ENST00000684466.1:n.872C>T
ENST00000684644.1:n.872C>T
ENST00000684761.1:n.872C>T
XM_017027812.2:c.2298C>T XP_016883301.1:p.Pro766=
XM_017027813.2:c.2253C>T XP_016883302.1:p.Pro751=
XM_017027814.2:c.2250C>T XP_016883303.1:p.Pro750=
XM_017027815.1:c.225C>T XP_016883304.1:p.Pro75=
XM_017027816.1:c.144C>T XP_016883305.1:p.Pro48=
XM_017027817.1:c.144C>T XP_016883306.1:p.Pro48=
XM_017027818.2:c.144C>T XP_016883307.1:p.Pro48=
XM_017027819.1:c.144C>T XP_016883308.1:p.Pro48=
XM_017027820.1:c.144C>T XP_016883309.1:p.Pro48=
XM_017027821.1:c.*269C>T XP_016883310.1:n.*269C>T
XM_024451872.1:c.270C>T XP_024307640.1:p.Pro90=
XM_024451873.1:c.189C>T XP_024307641.1:p.Pro63=
XM_024451874.1:c.189C>T XP_024307642.1:p.Pro63=
XM_024451875.1:c.189C>T XP_024307643.1:p.Pro63=
XR_002958471.1:n.1073C>T