Canonical Allele Identifier: CA262349

Gene: TSC1

Linked Data

• ClinVar Variation Id: 49031
• ClinVar RCV Id: RCV000042282
• dbSNP Id: rs118203371
• MyVariant Identifiers: chr9:g.135800973dupC (hg19) ; chr9:g.135800972_135800973insC (hg19) ; chr9:g.132925586dupC (hg38) ; chr9:g.132925585_132925586insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.132925587dup , CM000671.2:g.132925587dup	GRCh38
NC_000009.11:g.135800974dup , CM000671.1:g.135800974dup	GRCh37
NC_000009.10:g.134790795dup	NCBI36
NG_012386.1:g.24048dup , LRG_486:g.24048dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000475903.7:c.363+1dup
ENST00000490179.4:c.363+1dup
ENST00000642261.2:c.363+1dup
ENST00000643275.2:c.363+1dup
ENST00000643362.2:c.210+1615dup	ENSP00000496398.2:n.210+1615dup
ENST00000643625.2:c.363+1dup
ENST00000643691.2:c.-1+1dup
ENST00000644184.2:c.363+1dup
ENST00000645129.2:c.210+1615dup	ENSP00000493639.2:n.210+1615dup
ENST00000646440.2:c.363+1dup
ENST00000647078.2:c.363+1dup
ENST00000298552.9:c.363+1dup
ENST00000403810.6:c.363+1dup
ENST00000475903.6:c.363+1dup
ENST00000490179.3:c.363+1dup
ENST00000642344.1:c.363+1dup
ENST00000642617.1:c.363+1dup
ENST00000642627.1:c.363+1dup
ENST00000642646.1:c.363+1dup
ENST00000642745.1:c.363+1dup
ENST00000642811.1:c.*133+1dup
ENST00000642854.1:c.363+1dup
ENST00000643072.1:c.210+1615dup	ENSP00000496691.1:n.210+1615dup
ENST00000643362.1:c.210+1615dup	ENSP00000496398.1:n.210+1615dup
ENST00000643583.1:c.363+1dup
ENST00000643691.1:c.-1+1dup
ENST00000643875.1:c.363+1dup
ENST00000644097.1:c.363+1dup
ENST00000644255.1:c.*133+1dup
ENST00000644997.1:c.363+1dup
ENST00000645129.1:c.210+1615dup	ENSP00000493639.1:n.210+1615dup
ENST00000645150.1:c.363+1dup
ENST00000645901.1:n.566+1dup
ENST00000645904.1:n.2041+1dup
ENST00000646391.1:c.*133+1dup
ENST00000646625.1:c.363+1dup
ENST00000647078.1:c.363+1dup
ENST00000647279.1:c.363+1dup
ENST00000647462.1:c.363+1dup
ENST00000647506.1:n.591+1dup
ENST00000298552.7:c.363+1dup
ENST00000403810.5:c.363+1dup
ENST00000440111.6:c.363+1dup
ENST00000475903.5:n.520+1dup
ENST00000493467.5:n.559+1dup
ENST00000545250.5:c.210+1615dup	ENSP00000444017.1:n.210+1615dup
NM_000368.4:c.363+1dup , LRG_486t1:c.363+1dup
NM_001162426.1:c.363+1dup
NM_001162427.1:c.210+1615dup	NP_001155899.1:n.210+1615dup
XM_005272211.1:c.363+1dup
XM_006717271.1:c.363+1dup
XM_006717272.2:c.363+1dup
XM_011518979.1:c.363+1dup
NM_001362177.1:c.-1+1dup
XM_011518979.2:c.363+1dup
XM_017015096.1:c.363+1dup
XM_017015097.1:c.363+1dup
XM_017015098.1:c.363+1dup
XM_017015100.1:c.-1+1dup
XM_017015101.1:c.-1+1dup
NM_000368.5:c.363+1dup
NM_001162426.2:c.363+1dup
NM_001162427.2:c.210+1615dup	NP_001155899.1:n.210+1615dup
NM_001362177.2:c.-1+1dup