Canonical Allele Identifier: CA050977
Community Standard Title: NM_000548.5(TSC2):c.4358C>T (p.Pro1453Leu)
Gene: TSC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2084580C>T , CM000678.2:g.2084580C>T GRCh38
NC_000016.9:g.2134581C>T , CM000678.1:g.2134581C>T GRCh37
NC_000016.8:g.2074582C>T NCBI36
NG_005895.1:g.40275C>T , LRG_487:g.40275C>T

Transcript Alleles

HGVS Amino-acid Change
NM_000548.5:c.4358C>T MANE Select NP_000539.2:p.Pro1453Leu
ENST00000219476.9:c.4358C>T MANE Select ENSP00000219476.3:p.Pro1453Leu
NM_000548.3:c.4358C>T , LRG_487t1:c.4358C>T NP_000539.2:p.Pro1453Leu
NM_000548.4:c.4358C>T NP_000539.2:p.Pro1453Leu
NM_001077183.1:c.4157C>T NP_001070651.1:p.Pro1386Leu
NM_001077183.2:c.4157C>T NP_001070651.1:p.Pro1386Leu
NM_001077183.3:c.4157C>T NP_001070651.1:p.Pro1386Leu
NM_001114382.1:c.4289C>T NP_001107854.1:p.Pro1430Leu
NM_001114382.2:c.4289C>T NP_001107854.1:p.Pro1430Leu
NM_001114382.3:c.4289C>T NP_001107854.1:p.Pro1430Leu
NM_001318827.1:c.4049C>T NP_001305756.1:p.Pro1350Leu
NM_001318827.2:c.4049C>T NP_001305756.1:p.Pro1350Leu
NM_001318829.1:c.4013C>T NP_001305758.1:p.Pro1338Leu
NM_001318829.2:c.4013C>T NP_001305758.1:p.Pro1338Leu
NM_001318831.1:c.3626C>T NP_001305760.1:p.Pro1209Leu
NM_001318831.2:c.3626C>T NP_001305760.1:p.Pro1209Leu
NM_001318832.1:c.4190C>T NP_001305761.1:p.Pro1397Leu
NM_001318832.2:c.4190C>T NP_001305761.1:p.Pro1397Leu
NM_001363528.1:c.4160C>T NP_001350457.1:p.Pro1387Leu
NM_001363528.2:c.4160C>T NP_001350457.1:p.Pro1387Leu
NM_001370404.1:c.4226C>T NP_001357333.1:p.Pro1409Leu
NM_001370405.1:c.4229C>T NP_001357334.1:p.Pro1410Leu
NM_021055.2:c.4229C>T NP_066399.2:p.Pro1410Leu
NM_021055.3:c.4229C>T NP_066399.2:p.Pro1410Leu
ENST00000219476.7:c.4358C>T ENSP00000219476.3:p.Pro1453Leu
ENST00000350773.8:c.4289C>T ENSP00000344383.4:p.Pro1430Leu
ENST00000350773.9:c.4289C>T ENSP00000344383.4:p.Pro1430Leu
ENST00000382538.10:c.4013C>T ENSP00000371978.6:p.Pro1338Leu
ENST00000401874.6:c.4157C>T ENSP00000384468.2:p.Pro1386Leu
ENST00000401874.7:c.4157C>T ENSP00000384468.2:p.Pro1386Leu
ENST00000439117.6:c.*3525C>T ENSP00000406980.2:n.*3525C>T
ENST00000439673.6:c.4049C>T ENSP00000399232.2:p.Pro1350Leu
ENST00000497886.5:n.2116C>T
ENST00000568454.5:c.4190C>T ENSP00000454487.1:p.Pro1397Leu
ENST00000568454.6:c.4190C>T ENSP00000454487.1:p.Pro1397Leu
ENST00000568566.6:c.*2707C>T ENSP00000455997.2:n.*2707C>T
ENST00000569110.1:c.540C>T
ENST00000569110.2:c.594C>T
ENST00000569930.1:n.1473C>T
ENST00000569930.2:n.2240C>T
ENST00000642206.2:c.4205C>T ENSP00000495146.2:p.Pro1402Leu
ENST00000642365.1:c.3012C>T
ENST00000642365.2:c.4355C>T ENSP00000495459.2:p.Pro1452Leu
ENST00000642561.1:c.4229C>T ENSP00000495099.1:p.Pro1410Leu
ENST00000642728.1:n.540C>T
ENST00000642797.1:c.4160C>T ENSP00000493846.1:p.Pro1387Leu
ENST00000642936.1:c.4226C>T ENSP00000494514.1:p.Pro1409Leu
ENST00000643088.1:c.4157C>T ENSP00000494747.1:p.Pro1386Leu
ENST00000643177.1:n.372C>T
ENST00000643426.1:n.2006C>T
ENST00000643946.1:c.4289C>T ENSP00000495927.1:p.Pro1430Leu
ENST00000644043.1:c.4229C>T ENSP00000496262.1:p.Pro1410Leu
ENST00000644329.1:c.4157C>T ENSP00000496611.1:p.Pro1386Leu
ENST00000644335.1:c.4160C>T ENSP00000496317.1:p.Pro1387Leu
ENST00000644399.1:c.4279C>T
ENST00000644417.2:c.*4738C>T ENSP00000493912.2:n.*4738C>T
ENST00000645024.1:n.2442C>T
ENST00000646388.1:c.4358C>T ENSP00000495921.1:p.Pro1453Leu
ENST00000646464.2:c.*7107C>T ENSP00000496610.2:n.*7107C>T
ENST00000646634.1:n.3173C>T
ENST00000646674.1:n.1610C>T
ENST00000647042.1:n.1581C>T
ENST00000647180.1:n.1471C>T
XM_005255529.3:c.4229C>T XP_005255586.2:p.Pro1410Leu
XM_005255531.3:c.4160C>T XP_005255588.2:p.Pro1387Leu
XM_005255531.4:c.4160C>T XP_005255588.2:p.Pro1387Leu
XM_011522636.1:c.4412C>T XP_011520938.1:p.Pro1471Leu
XM_011522636.2:c.4412C>T XP_011520938.1:p.Pro1471Leu
XM_011522637.1:c.4409C>T XP_011520939.1:p.Pro1470Leu
XM_011522637.2:c.4409C>T XP_011520939.1:p.Pro1470Leu
XM_011522638.1:c.4301C>T XP_011520940.1:p.Pro1434Leu
XM_011522638.2:c.4574C>T XP_011520940.2:p.Pro1525Leu
XM_011522639.1:c.4283C>T XP_011520941.1:p.Pro1428Leu
XM_011522639.2:c.4283C>T XP_011520941.1:p.Pro1428Leu
XM_011522640.1:c.4280C>T XP_011520942.1:p.Pro1427Leu
XM_011522640.2:c.4280C>T XP_011520942.1:p.Pro1427Leu
XM_011522641.1:c.4049C>T XP_011520943.1:p.Pro1350Leu
XM_017023615.1:c.4355C>T XP_016879104.1:p.Pro1452Leu
XM_017023616.1:c.4226C>T XP_016879105.1:p.Pro1409Leu
XM_017023617.1:c.4322C>T XP_016879106.1:p.Pro1441Leu
XM_017023618.1:c.3068C>T XP_016879107.1:p.Pro1023Leu
XM_024450413.1:c.4157C>T XP_024306181.1:p.Pro1386Leu