Canonical Allele Identifier: CA16612632

Gene: TSC1

Linked Data

• ClinVar Variation Id: 411245
• ClinVar RCV Id: RCV000461435 ; RCV002429541 ; RCV004001899 ; RCV003476098
• dbSNP Id: rs1060503207
• gnomAD v4: 9-132903706-C-T
• MyVariant Identifiers: chr9:g.135779093C>T (hg19) ; chr9:g.132903706C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.132903706C>T , CM000671.2:g.132903706C>T	GRCh38
NC_000009.11:g.135779093C>T , CM000671.1:g.135779093C>T	GRCh37
NC_000009.10:g.134768914C>T	NCBI36
NG_012386.1:g.45928G>A , LRG_486:g.45928G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475903.7:c.2150G>A	ENSP00000496126.2:p.Arg717Gln
ENST00000490179.4:c.2153G>A	ENSP00000495533.2:p.Arg718Gln
ENST00000642261.2:c.2153G>A	ENSP00000494743.2:p.Arg718Gln
ENST00000643275.2:c.*93G>A	ENSP00000495598.2:n.*93G>A
ENST00000643362.2:c.1766G>A	ENSP00000496398.2:p.Arg589Gln
ENST00000643625.2:c.2041+705G>A	ENSP00000495546.2:n.2041+705G>A
ENST00000643691.2:c.1790G>A	ENSP00000494916.2:p.Arg597Gln
ENST00000644184.2:c.2153G>A	ENSP00000495428.2:p.Arg718Gln
ENST00000645129.2:c.1997G>A	ENSP00000493639.2:p.Arg666Gln
ENST00000646440.2:c.2153G>A	ENSP00000495830.2:p.Arg718Gln
ENST00000298552.9:c.2153G>A MANE Select	ENSP00000298552.3:p.Arg718Gln
ENST00000642261.1:c.217G>A
ENST00000642617.1:c.2150G>A	ENSP00000493773.1:p.Arg717Gln
ENST00000642627.1:c.2135G>A	ENSP00000496772.1:p.Arg712Gln
ENST00000642811.1:c.*1923G>A	ENSP00000495554.1:n.*1923G>A
ENST00000643072.1:c.2000G>A	ENSP00000496691.1:p.Arg667Gln
ENST00000643275.1:c.627G>A	ENSP00000495598.1:n.627G>A
ENST00000643583.1:c.2138G>A	ENSP00000494685.1:p.Arg713Gln
ENST00000643625.1:c.85+705G>A	ENSP00000495546.1:n.85+705G>A
ENST00000643875.1:c.2153G>A	ENSP00000495158.1:p.Arg718Gln
ENST00000644097.1:c.2150G>A	ENSP00000494682.1:p.Arg717Gln
ENST00000644184.1:c.890G>A	ENSP00000495428.1:p.Arg297Gln
ENST00000644255.1:c.*1920G>A	ENSP00000493608.1:n.*1920G>A
ENST00000644319.1:n.2528G>A
ENST00000644882.1:n.1108G>A
ENST00000645901.1:n.3004G>A
ENST00000646391.1:c.*1923G>A	ENSP00000494104.1:n.*1923G>A
ENST00000646625.1:c.2153G>A	ENSP00000496263.1:p.Arg718Gln
ENST00000647262.1:n.1118G>A
ENST00000647279.1:c.*1392G>A	ENSP00000494502.1:n.*1392G>A
ENST00000647506.1:n.3029G>A
ENST00000647534.1:n.1217G>A
ENST00000298552.7:c.2153G>A	ENSP00000298552.3:p.Arg718Gln
ENST00000440111.6:c.2153G>A	ENSP00000394524.2:p.Arg718Gln
ENST00000545250.5:c.2000G>A	ENSP00000444017.1:p.Arg667Gln
NM_000368.4:c.2153G>A , LRG_486t1:c.2153G>A	NP_000359.1:p.Arg718Gln
NM_001162426.1:c.2150G>A	NP_001155898.1:p.Arg717Gln
NM_001162427.1:c.2000G>A	NP_001155899.1:p.Arg667Gln
XM_005272211.1:c.2153G>A	XP_005272268.1:p.Arg718Gln
XM_006717271.1:c.2153G>A	XP_006717334.1:p.Arg718Gln
XM_011518979.1:c.2153G>A	XP_011517281.1:p.Arg718Gln
NM_001362177.1:c.1790G>A	NP_001349106.1:p.Arg597Gln
XM_011518979.2:c.2153G>A	XP_011517281.1:p.Arg718Gln
XM_017015096.1:c.2153G>A	XP_016870585.1:p.Arg718Gln
XM_017015097.1:c.2153G>A	XP_016870586.1:p.Arg718Gln
XM_017015098.1:c.2150G>A	XP_016870587.1:p.Arg717Gln
XM_017015100.1:c.1790G>A	XP_016870589.1:p.Arg597Gln
XM_017015101.1:c.1787G>A	XP_016870590.1:p.Arg596Gln
NM_000368.5:c.2153G>A MANE Select	NP_000359.1:p.Arg718Gln
NM_001162426.2:c.2150G>A	NP_001155898.1:p.Arg717Gln
NM_001162427.2:c.2000G>A	NP_001155899.1:p.Arg667Gln
NM_001362177.2:c.1790G>A	NP_001349106.1:p.Arg597Gln