Canonical Allele Identifier: CA021009
Community Standard Title: NM_000548.5(TSC2):c.4790T>C (p.Leu1597Pro)
Gene: TSC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2086320T>C , CM000678.2:g.2086320T>C GRCh38
NC_000016.9:g.2136321T>C , CM000678.1:g.2136321T>C GRCh37
NC_000016.8:g.2076322T>C NCBI36
NG_005895.1:g.42015T>C , LRG_487:g.42015T>C

Transcript Alleles

HGVS Amino-acid Change
NM_000548.5:c.4790T>C MANE Select NP_000539.2:p.Leu1597Pro
ENST00000219476.9:c.4790T>C MANE Select ENSP00000219476.3:p.Leu1597Pro
NM_000548.3:c.4790T>C , LRG_487t1:c.4790T>C NP_000539.2:p.Leu1597Pro
NM_000548.4:c.4790T>C NP_000539.2:p.Leu1597Pro
NM_001077183.1:c.4589T>C NP_001070651.1:p.Leu1530Pro
NM_001077183.2:c.4589T>C NP_001070651.1:p.Leu1530Pro
NM_001077183.3:c.4589T>C NP_001070651.1:p.Leu1530Pro
NM_001114382.1:c.4721T>C NP_001107854.1:p.Leu1574Pro
NM_001114382.2:c.4721T>C NP_001107854.1:p.Leu1574Pro
NM_001114382.3:c.4721T>C NP_001107854.1:p.Leu1574Pro
NM_001318827.1:c.4481T>C NP_001305756.1:p.Leu1494Pro
NM_001318827.2:c.4481T>C NP_001305756.1:p.Leu1494Pro
NM_001318829.1:c.4445T>C NP_001305758.1:p.Leu1482Pro
NM_001318829.2:c.4445T>C NP_001305758.1:p.Leu1482Pro
NM_001318831.1:c.4058T>C NP_001305760.1:p.Leu1353Pro
NM_001318831.2:c.4058T>C NP_001305760.1:p.Leu1353Pro
NM_001318832.1:c.4622T>C NP_001305761.1:p.Leu1541Pro
NM_001318832.2:c.4622T>C NP_001305761.1:p.Leu1541Pro
NM_001363528.1:c.4592T>C NP_001350457.1:p.Leu1531Pro
NM_001363528.2:c.4592T>C NP_001350457.1:p.Leu1531Pro
NM_001370404.1:c.4658T>C NP_001357333.1:p.Leu1553Pro
NM_001370405.1:c.4661T>C NP_001357334.1:p.Leu1554Pro
NM_021055.2:c.4661T>C NP_066399.2:p.Leu1554Pro
NM_021055.3:c.4661T>C NP_066399.2:p.Leu1554Pro
ENST00000219476.7:c.4790T>C ENSP00000219476.3:p.Leu1597Pro
ENST00000350773.8:c.4721T>C ENSP00000344383.4:p.Leu1574Pro
ENST00000350773.9:c.4721T>C ENSP00000344383.4:p.Leu1574Pro
ENST00000382538.10:c.4445T>C ENSP00000371978.6:p.Leu1482Pro
ENST00000401874.6:c.4589T>C ENSP00000384468.2:p.Leu1530Pro
ENST00000401874.7:c.4589T>C ENSP00000384468.2:p.Leu1530Pro
ENST00000439117.6:c.*3957T>C ENSP00000406980.2:n.*3957T>C
ENST00000439673.6:c.4481T>C ENSP00000399232.2:p.Leu1494Pro
ENST00000497886.5:n.2548T>C
ENST00000568454.5:c.4622T>C ENSP00000454487.1:p.Leu1541Pro
ENST00000568454.6:c.4622T>C ENSP00000454487.1:p.Leu1541Pro
ENST00000568566.6:c.*3139T>C ENSP00000455997.2:n.*3139T>C
ENST00000569110.1:c.972T>C
ENST00000569110.2:c.1013T>C
ENST00000569930.1:n.1905T>C
ENST00000569930.2:n.2672T>C
ENST00000642206.2:c.4637T>C ENSP00000495146.2:p.Leu1546Pro
ENST00000642365.1:c.3444T>C
ENST00000642365.2:c.4787T>C ENSP00000495459.2:p.Leu1596Pro
ENST00000642561.1:c.4661T>C ENSP00000495099.1:p.Leu1554Pro
ENST00000642728.1:n.972T>C
ENST00000642791.1:n.387T>C
ENST00000642797.1:c.4592T>C ENSP00000493846.1:p.Leu1531Pro
ENST00000642936.1:c.4658T>C ENSP00000494514.1:p.Leu1553Pro
ENST00000643088.1:c.4583T>C ENSP00000494747.1:p.Leu1528Pro
ENST00000643177.1:n.804T>C
ENST00000643426.1:n.2438T>C
ENST00000643946.1:c.4715T>C ENSP00000495927.1:p.Leu1572Pro
ENST00000644043.1:c.4661T>C ENSP00000496262.1:p.Leu1554Pro
ENST00000644278.1:n.272T>C
ENST00000644329.1:c.4589T>C ENSP00000496611.1:p.Leu1530Pro
ENST00000644335.1:c.4586T>C ENSP00000496317.1:p.Leu1529Pro
ENST00000644399.1:c.4711T>C
ENST00000644417.2:c.*5303T>C ENSP00000493912.2:n.*5303T>C
ENST00000645024.1:n.2874T>C
ENST00000646388.1:c.4784T>C ENSP00000495921.1:p.Leu1595Pro
ENST00000646464.2:c.*7539T>C ENSP00000496610.2:n.*7539T>C
ENST00000646634.1:n.3605T>C
ENST00000646674.1:n.2042T>C
ENST00000647042.1:n.2013T>C
ENST00000647180.1:n.1903T>C
XM_005255529.3:c.4661T>C XP_005255586.2:p.Leu1554Pro
XM_005255531.3:c.4592T>C XP_005255588.2:p.Leu1531Pro
XM_005255531.4:c.4592T>C XP_005255588.2:p.Leu1531Pro
XM_011522636.1:c.4844T>C XP_011520938.1:p.Leu1615Pro
XM_011522636.2:c.4844T>C XP_011520938.1:p.Leu1615Pro
XM_011522637.1:c.4841T>C XP_011520939.1:p.Leu1614Pro
XM_011522637.2:c.4841T>C XP_011520939.1:p.Leu1614Pro
XM_011522638.1:c.4733T>C XP_011520940.1:p.Leu1578Pro
XM_011522638.2:c.5006T>C XP_011520940.2:p.Leu1669Pro
XM_011522639.1:c.4715T>C XP_011520941.1:p.Leu1572Pro
XM_011522639.2:c.4715T>C XP_011520941.1:p.Leu1572Pro
XM_011522640.1:c.4712T>C XP_011520942.1:p.Leu1571Pro
XM_011522640.2:c.4712T>C XP_011520942.1:p.Leu1571Pro
XM_011522641.1:c.4481T>C XP_011520943.1:p.Leu1494Pro
XM_017023615.1:c.4787T>C XP_016879104.1:p.Leu1596Pro
XM_017023616.1:c.4658T>C XP_016879105.1:p.Leu1553Pro
XM_017023617.1:c.4754T>C XP_016879106.1:p.Leu1585Pro
XM_017023618.1:c.3500T>C XP_016879107.1:p.Leu1167Pro
XM_024450413.1:c.4589T>C XP_024306181.1:p.Leu1530Pro