Canonical Allele Identifier: CA007356
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 184790
dbSNP Id: rs751398082

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.132896322A>T , CM000671.2:g.132896322A>T GRCh38
NC_000009.11:g.135771709A>T , CM000671.1:g.135771709A>T GRCh37
NC_000009.10:g.134761530A>T NCBI36
NG_012386.1:g.53312T>A , LRG_486:g.53312T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000475903.7:c.3405T>A ENSP00000496126.2:p.Asp1135Glu
ENST00000490179.4:c.3408T>A ENSP00000495533.2:p.Asp1136Glu
ENST00000642261.2:c.*1264T>A ENSP00000494743.2:n.*1264T>A
ENST00000643275.2:c.*1348T>A ENSP00000495598.2:n.*1348T>A
ENST00000643362.2:c.3021T>A ENSP00000496398.2:p.Asp1007Glu
ENST00000643625.2:c.*1150T>A ENSP00000495546.2:n.*1150T>A
ENST00000643691.2:c.3045T>A ENSP00000494916.2:p.Asp1015Glu
ENST00000644184.2:c.3366T>A ENSP00000495428.2:p.Asp1122Glu
ENST00000645129.2:c.3252T>A ENSP00000493639.2:p.Asp1084Glu
ENST00000646440.2:c.3408T>A ENSP00000495830.2:p.Asp1136Glu
ENST00000298552.9:c.3408T>A MANE Select ENSP00000298552.3:p.Asp1136Glu
ENST00000642617.1:c.3405T>A ENSP00000493773.1:p.Asp1135Glu
ENST00000642627.1:c.3390T>A ENSP00000496772.1:p.Asp1130Glu
ENST00000642811.1:c.*3178T>A ENSP00000495554.1:n.*3178T>A
ENST00000643072.1:c.3255T>A ENSP00000496691.1:p.Asp1085Glu
ENST00000643583.1:c.3393T>A ENSP00000494685.1:p.Asp1131Glu
ENST00000643625.1:c.1285T>A ENSP00000495546.1:n.1285T>A
ENST00000643875.1:c.3408T>A ENSP00000495158.1:p.Asp1136Glu
ENST00000644097.1:c.3405T>A ENSP00000494682.1:p.Asp1135Glu
ENST00000644184.1:c.2103T>A ENSP00000495428.1:p.Asp701Glu
ENST00000644255.1:c.*3175T>A ENSP00000493608.1:n.*3175T>A
ENST00000644319.1:n.3783T>A
ENST00000644786.1:n.1067T>A
ENST00000644882.1:n.2316T>A
ENST00000645901.1:n.4259T>A
ENST00000646391.1:c.*3178T>A ENSP00000494104.1:n.*3178T>A
ENST00000646625.1:c.3408T>A ENSP00000496263.1:p.Asp1136Glu
ENST00000647262.1:n.2373T>A
ENST00000647279.1:c.*2647T>A ENSP00000494502.1:n.*2647T>A
ENST00000647534.1:n.2472T>A
ENST00000298552.7:c.3408T>A ENSP00000298552.3:p.Asp1136Glu
ENST00000440111.6:c.3408T>A ENSP00000394524.2:p.Asp1136Glu
ENST00000545250.5:c.3255T>A ENSP00000444017.1:p.Asp1085Glu
NM_000368.4:c.3408T>A , LRG_486t1:c.3408T>A NP_000359.1:p.Asp1136Glu
NM_001162426.1:c.3405T>A NP_001155898.1:p.Asp1135Glu
NM_001162427.1:c.3255T>A NP_001155899.1:p.Asp1085Glu
XM_005272211.1:c.3408T>A XP_005272268.1:p.Asp1136Glu
XM_006717271.1:c.3408T>A XP_006717334.1:p.Asp1136Glu
XM_011518979.1:c.3408T>A XP_011517281.1:p.Asp1136Glu
NM_001362177.1:c.3045T>A NP_001349106.1:p.Asp1015Glu
XM_011518979.2:c.3408T>A XP_011517281.1:p.Asp1136Glu
XM_017015096.1:c.3408T>A XP_016870585.1:p.Asp1136Glu
XM_017015097.1:c.3408T>A XP_016870586.1:p.Asp1136Glu
XM_017015098.1:c.3405T>A XP_016870587.1:p.Asp1135Glu
XM_017015100.1:c.3045T>A XP_016870589.1:p.Asp1015Glu
XM_017015101.1:c.3042T>A XP_016870590.1:p.Asp1014Glu
NM_000368.5:c.3408T>A MANE Select NP_000359.1:p.Asp1136Glu
NM_001162426.2:c.3405T>A NP_001155898.1:p.Asp1135Glu
NM_001162427.2:c.3255T>A NP_001155899.1:p.Asp1085Glu
NM_001362177.2:c.3045T>A NP_001349106.1:p.Asp1015Glu