Canonical Allele Identifier: CA394302616
Community Standard Title: NM_000548.5(TSC2):c.4490C>T (p.Pro1497Leu)
Gene: TSC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2084712C>T , CM000678.2:g.2084712C>T GRCh38
NC_000016.9:g.2134713C>T , CM000678.1:g.2134713C>T GRCh37
NC_000016.8:g.2074714C>T NCBI36
NG_005895.1:g.40407C>T , LRG_487:g.40407C>T

Transcript Alleles

HGVS Amino-acid Change
NM_000548.5:c.4490C>T MANE Select NP_000539.2:p.Pro1497Leu
ENST00000219476.9:c.4490C>T MANE Select ENSP00000219476.3:p.Pro1497Leu
NM_000548.3:c.4490C>T , LRG_487t1:c.4490C>T NP_000539.2:p.Pro1497Leu
NM_000548.4:c.4490C>T NP_000539.2:p.Pro1497Leu
NM_001077183.1:c.4289C>T NP_001070651.1:p.Pro1430Leu
NM_001077183.2:c.4289C>T NP_001070651.1:p.Pro1430Leu
NM_001077183.3:c.4289C>T NP_001070651.1:p.Pro1430Leu
NM_001114382.1:c.4421C>T NP_001107854.1:p.Pro1474Leu
NM_001114382.2:c.4421C>T NP_001107854.1:p.Pro1474Leu
NM_001114382.3:c.4421C>T NP_001107854.1:p.Pro1474Leu
NM_001318827.1:c.4181C>T NP_001305756.1:p.Pro1394Leu
NM_001318827.2:c.4181C>T NP_001305756.1:p.Pro1394Leu
NM_001318829.1:c.4145C>T NP_001305758.1:p.Pro1382Leu
NM_001318829.2:c.4145C>T NP_001305758.1:p.Pro1382Leu
NM_001318831.1:c.3758C>T NP_001305760.1:p.Pro1253Leu
NM_001318831.2:c.3758C>T NP_001305760.1:p.Pro1253Leu
NM_001318832.1:c.4322C>T NP_001305761.1:p.Pro1441Leu
NM_001318832.2:c.4322C>T NP_001305761.1:p.Pro1441Leu
NM_001363528.1:c.4292C>T NP_001350457.1:p.Pro1431Leu
NM_001363528.2:c.4292C>T NP_001350457.1:p.Pro1431Leu
NM_001370404.1:c.4358C>T NP_001357333.1:p.Pro1453Leu
NM_001370405.1:c.4361C>T NP_001357334.1:p.Pro1454Leu
NM_021055.2:c.4361C>T NP_066399.2:p.Pro1454Leu
NM_021055.3:c.4361C>T NP_066399.2:p.Pro1454Leu
ENST00000219476.7:c.4490C>T ENSP00000219476.3:p.Pro1497Leu
ENST00000350773.8:c.4421C>T ENSP00000344383.4:p.Pro1474Leu
ENST00000350773.9:c.4421C>T ENSP00000344383.4:p.Pro1474Leu
ENST00000382538.10:c.4145C>T ENSP00000371978.6:p.Pro1382Leu
ENST00000401874.6:c.4289C>T ENSP00000384468.2:p.Pro1430Leu
ENST00000401874.7:c.4289C>T ENSP00000384468.2:p.Pro1430Leu
ENST00000439117.6:c.*3657C>T ENSP00000406980.2:n.*3657C>T
ENST00000439673.6:c.4181C>T ENSP00000399232.2:p.Pro1394Leu
ENST00000497886.5:n.2248C>T
ENST00000568454.5:c.4322C>T ENSP00000454487.1:p.Pro1441Leu
ENST00000568454.6:c.4322C>T ENSP00000454487.1:p.Pro1441Leu
ENST00000568566.6:c.*2839C>T ENSP00000455997.2:n.*2839C>T
ENST00000569110.1:c.672C>T
ENST00000569110.2:c.716+10C>T
ENST00000569930.1:n.1605C>T
ENST00000569930.2:n.2372C>T
ENST00000642206.2:c.4337C>T ENSP00000495146.2:p.Pro1446Leu
ENST00000642365.1:c.3144C>T
ENST00000642365.2:c.4487C>T ENSP00000495459.2:p.Pro1496Leu
ENST00000642561.1:c.4361C>T ENSP00000495099.1:p.Pro1454Leu
ENST00000642728.1:n.672C>T
ENST00000642797.1:c.4292C>T ENSP00000493846.1:p.Pro1431Leu
ENST00000642936.1:c.4358C>T ENSP00000494514.1:p.Pro1453Leu
ENST00000643088.1:c.4289C>T ENSP00000494747.1:p.Pro1430Leu
ENST00000643177.1:n.504C>T
ENST00000643426.1:n.2138C>T
ENST00000643946.1:c.4421C>T ENSP00000495927.1:p.Pro1474Leu
ENST00000644043.1:c.4361C>T ENSP00000496262.1:p.Pro1454Leu
ENST00000644329.1:c.4289C>T ENSP00000496611.1:p.Pro1430Leu
ENST00000644335.1:c.4292C>T ENSP00000496317.1:p.Pro1431Leu
ENST00000644399.1:c.4411C>T
ENST00000644417.2:c.*4870C>T ENSP00000493912.2:n.*4870C>T
ENST00000645024.1:n.2574C>T
ENST00000646388.1:c.4490C>T ENSP00000495921.1:p.Pro1497Leu
ENST00000646464.2:c.*7239C>T ENSP00000496610.2:n.*7239C>T
ENST00000646634.1:n.3305C>T
ENST00000646674.1:n.1742C>T
ENST00000647042.1:n.1713C>T
ENST00000647180.1:n.1603C>T
XM_005255529.3:c.4361C>T XP_005255586.2:p.Pro1454Leu
XM_005255531.3:c.4292C>T XP_005255588.2:p.Pro1431Leu
XM_005255531.4:c.4292C>T XP_005255588.2:p.Pro1431Leu
XM_011522636.1:c.4544C>T XP_011520938.1:p.Pro1515Leu
XM_011522636.2:c.4544C>T XP_011520938.1:p.Pro1515Leu
XM_011522637.1:c.4541C>T XP_011520939.1:p.Pro1514Leu
XM_011522637.2:c.4541C>T XP_011520939.1:p.Pro1514Leu
XM_011522638.1:c.4433C>T XP_011520940.1:p.Pro1478Leu
XM_011522638.2:c.4706C>T XP_011520940.2:p.Pro1569Leu
XM_011522639.1:c.4415C>T XP_011520941.1:p.Pro1472Leu
XM_011522639.2:c.4415C>T XP_011520941.1:p.Pro1472Leu
XM_011522640.1:c.4412C>T XP_011520942.1:p.Pro1471Leu
XM_011522640.2:c.4412C>T XP_011520942.1:p.Pro1471Leu
XM_011522641.1:c.4181C>T XP_011520943.1:p.Pro1394Leu
XM_017023615.1:c.4487C>T XP_016879104.1:p.Pro1496Leu
XM_017023616.1:c.4358C>T XP_016879105.1:p.Pro1453Leu
XM_017023617.1:c.4454C>T XP_016879106.1:p.Pro1485Leu
XM_017023618.1:c.3200C>T XP_016879107.1:p.Pro1067Leu
XM_024450413.1:c.4289C>T XP_024306181.1:p.Pro1430Leu