Canonical Allele Identifier: CA008226
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 49107
ClinVar RCV Id: RCV000042362 RCV000130030 RCV001852870
dbSNP Id: rs118203451
MyVariant Identifiers: chr9:g.135787769_135787770del (hg19) chr9:g.132912382_132912383del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.132912384_132912385del , CM000671.2:g.132912384_132912385del GRCh38
NC_000009.11:g.135787771_135787772del , CM000671.1:g.135787771_135787772del GRCh37
NC_000009.10:g.134777592_134777593del NCBI36
NG_012386.1:g.37251_37252del , LRG_486:g.37251_37252del

Transcript Alleles

HGVS Amino-acid change
ENST00000475903.7:c.812_813del ENSP00000496126.2:p.Tyr271Ter
ENST00000490179.4:c.812_813del ENSP00000495533.2:p.Tyr271Ter
ENST00000642261.2:c.812_813del ENSP00000494743.2:p.Tyr271Ter
ENST00000643275.2:c.812_813del ENSP00000495598.2:p.Tyr271Ter
ENST00000643362.2:c.659_660del ENSP00000496398.2:p.Tyr220Ter
ENST00000643625.2:c.812_813del ENSP00000495546.2:p.Tyr271Ter
ENST00000643691.2:c.449_450del ENSP00000494916.2:p.Tyr150Ter
ENST00000644184.2:c.812_813del ENSP00000495428.2:p.Tyr271Ter
ENST00000645129.2:c.659_660del ENSP00000493639.2:p.Tyr220Ter
ENST00000646440.2:c.812_813del ENSP00000495830.2:p.Tyr271Ter
ENST00000647078.2:c.812_813del ENSP00000496066.1:p.Tyr271Ter
ENST00000298552.9:c.812_813del MANE Select ENSP00000298552.3:p.Tyr271Ter
ENST00000403810.6:c.812_813del ENSP00000386093.1:p.Tyr271Ter
ENST00000493467.6:n.86_87del
ENST00000642344.1:c.*553_*554del ENSP00000494847.1:n.*553_*554del
ENST00000642617.1:c.812_813del ENSP00000493773.1:p.Tyr271Ter
ENST00000642627.1:c.812_813del ENSP00000496772.1:p.Tyr271Ter
ENST00000642646.1:c.812_813del ENSP00000496292.1:p.Tyr271Ter
ENST00000642745.1:c.812_813del ENSP00000493963.1:p.Tyr271Ter
ENST00000642811.1:c.*582_*583del ENSP00000495554.1:n.*582_*583del
ENST00000642854.1:c.*597_*598del ENSP00000494639.1:n.*597_*598del
ENST00000643072.1:c.659_660del ENSP00000496691.1:p.Tyr220Ter
ENST00000643362.1:c.659_660del ENSP00000496398.1:p.Tyr220Ter
ENST00000643583.1:c.812_813del ENSP00000494685.1:p.Tyr271Ter
ENST00000643691.1:c.449_450del ENSP00000494916.1:p.Tyr150Ter
ENST00000643875.1:c.812_813del ENSP00000495158.1:p.Tyr271Ter
ENST00000644097.1:c.812_813del ENSP00000494682.1:p.Tyr271Ter
ENST00000644255.1:c.*582_*583del ENSP00000493608.1:n.*582_*583del
ENST00000644319.1:n.539_540del
ENST00000644997.1:c.*469_*470del ENSP00000495654.1:n.*469_*470del
ENST00000645129.1:c.659_660del ENSP00000493639.1:p.Tyr220Ter
ENST00000645150.1:c.812_813del ENSP00000494365.1:p.Tyr271Ter
ENST00000645901.1:n.1015_1016del
ENST00000646391.1:c.*582_*583del ENSP00000494104.1:n.*582_*583del
ENST00000646625.1:c.812_813del ENSP00000496263.1:p.Tyr271Ter
ENST00000647078.1:c.812_813del ENSP00000496066.1:p.Tyr271Ter
ENST00000647279.1:c.*51_*52del ENSP00000494502.1:n.*51_*52del
ENST00000647462.1:c.812_813del ENSP00000495821.1:p.Tyr271Ter
ENST00000647506.1:n.1040_1041del
ENST00000298552.7:c.812_813del ENSP00000298552.3:p.Tyr271Ter
ENST00000403810.5:c.812_813del ENSP00000386093.1:p.Tyr271Ter
ENST00000440111.6:c.812_813del ENSP00000394524.2:p.Tyr271Ter
ENST00000493467.5:n.1008_1009del
ENST00000545250.5:c.659_660del ENSP00000444017.1:p.Tyr220Ter
NM_000368.4:c.812_813del , LRG_486t1:c.812_813del NP_000359.1:p.Tyr271Ter
NM_001162426.1:c.812_813del NP_001155898.1:p.Tyr271Ter
NM_001162427.1:c.659_660del NP_001155899.1:p.Tyr220Ter
XM_005272211.1:c.812_813del XP_005272268.1:p.Tyr271Ter
XM_006717271.1:c.812_813del XP_006717334.1:p.Tyr271Ter
XM_006717272.2:c.812_813del XP_006717335.1:p.Tyr271Ter
XM_011518979.1:c.812_813del XP_011517281.1:p.Tyr271Ter
NM_001362177.1:c.449_450del NP_001349106.1:p.Tyr150Ter
XM_011518979.2:c.812_813del XP_011517281.1:p.Tyr271Ter
XM_017015096.1:c.812_813del XP_016870585.1:p.Tyr271Ter
XM_017015097.1:c.812_813del XP_016870586.1:p.Tyr271Ter
XM_017015098.1:c.812_813del XP_016870587.1:p.Tyr271Ter
XM_017015100.1:c.449_450del XP_016870589.1:p.Tyr150Ter
XM_017015101.1:c.449_450del XP_016870590.1:p.Tyr150Ter
NM_000368.5:c.812_813del MANE Select NP_000359.1:p.Tyr271Ter
NM_001162426.2:c.812_813del NP_001155898.1:p.Tyr271Ter
NM_001162427.2:c.659_660del NP_001155899.1:p.Tyr220Ter
NM_001362177.2:c.449_450del NP_001349106.1:p.Tyr150Ter
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