Canonical Allele Identifier: CA200887452
Community Standard Title: NM_000368.5(TSC1):c.2033A>T (p.His678Leu)
Gene: TSC1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.132904419T>A , CM000671.2:g.132904419T>A GRCh38
NC_000009.11:g.135779806T>A , CM000671.1:g.135779806T>A GRCh37
NC_000009.10:g.134769627T>A NCBI36
NG_012386.1:g.45215A>T , LRG_486:g.45215A>T

Transcript Alleles

HGVS Amino-acid Change
NM_000368.5:c.2033A>T MANE Select NP_000359.1:p.His678Leu
ENST00000298552.9:c.2033A>T MANE Select ENSP00000298552.3:p.His678Leu
NM_000368.4:c.2033A>T , LRG_486t1:c.2033A>T NP_000359.1:p.His678Leu
NM_001162426.1:c.2030A>T NP_001155898.1:p.His677Leu
NM_001162426.2:c.2030A>T NP_001155898.1:p.His677Leu
NM_001162427.1:c.1880A>T NP_001155899.1:p.His627Leu
NM_001162427.2:c.1880A>T NP_001155899.1:p.His627Leu
NM_001362177.1:c.1670A>T NP_001349106.1:p.His557Leu
NM_001362177.2:c.1670A>T NP_001349106.1:p.His557Leu
ENST00000298552.7:c.2033A>T ENSP00000298552.3:p.His678Leu
ENST00000440111.6:c.2033A>T ENSP00000394524.2:p.His678Leu
ENST00000475903.7:c.2030A>T ENSP00000496126.2:p.His677Leu
ENST00000490179.4:c.2033A>T ENSP00000495533.2:p.His678Leu
ENST00000545250.5:c.1880A>T ENSP00000444017.1:p.His627Leu
ENST00000642261.1:c.97A>T
ENST00000642261.2:c.2033A>T ENSP00000494743.2:p.His678Leu
ENST00000642617.1:c.2030A>T ENSP00000493773.1:p.His677Leu
ENST00000642627.1:c.2030A>T ENSP00000496772.1:p.His677Leu
ENST00000642811.1:c.*1803A>T ENSP00000495554.1:n.*1803A>T
ENST00000643072.1:c.1880A>T ENSP00000496691.1:p.His627Leu
ENST00000643275.1:c.516-602A>T ENSP00000495598.1:n.516-602A>T
ENST00000643275.2:c.1998-602A>T ENSP00000495598.2:n.1998-602A>T
ENST00000643362.2:c.1646A>T ENSP00000496398.2:p.His549Leu
ENST00000643583.1:c.2033A>T ENSP00000494685.1:p.His678Leu
ENST00000643625.1:c.77A>T ENSP00000495546.1:p.His26Leu
ENST00000643625.2:c.2033A>T ENSP00000495546.2:p.His678Leu
ENST00000643691.2:c.1670A>T ENSP00000494916.2:p.His557Leu
ENST00000643875.1:c.2033A>T ENSP00000495158.1:p.His678Leu
ENST00000644097.1:c.2030A>T ENSP00000494682.1:p.His677Leu
ENST00000644184.1:c.770A>T ENSP00000495428.1:p.His257Leu
ENST00000644184.2:c.2033A>T ENSP00000495428.2:p.His678Leu
ENST00000644255.1:c.*1800A>T ENSP00000493608.1:n.*1800A>T
ENST00000644319.1:n.2408A>T
ENST00000644882.1:n.988A>T
ENST00000645129.2:c.1877A>T ENSP00000493639.2:p.His626Leu
ENST00000645901.1:n.2884A>T
ENST00000646391.1:c.*1803A>T ENSP00000494104.1:n.*1803A>T
ENST00000646440.2:c.2033A>T ENSP00000495830.2:p.His678Leu
ENST00000646625.1:c.2033A>T ENSP00000496263.1:p.His678Leu
ENST00000647262.1:n.998A>T
ENST00000647279.1:c.*1272A>T ENSP00000494502.1:n.*1272A>T
ENST00000647506.1:n.2909A>T
ENST00000647534.1:n.1097A>T
XM_005272211.1:c.2033A>T XP_005272268.1:p.His678Leu
XM_006717271.1:c.2033A>T XP_006717334.1:p.His678Leu
XM_011518979.1:c.2033A>T XP_011517281.1:p.His678Leu
XM_011518979.2:c.2033A>T XP_011517281.1:p.His678Leu
XM_017015096.1:c.2033A>T XP_016870585.1:p.His678Leu
XM_017015097.1:c.2033A>T XP_016870586.1:p.His678Leu
XM_017015098.1:c.2030A>T XP_016870587.1:p.His677Leu
XM_017015100.1:c.1670A>T XP_016870589.1:p.His557Leu
XM_017015101.1:c.1667A>T XP_016870590.1:p.His556Leu