Canonical Allele Identifier: CA319263

Gene: TSC1

Linked Data

• ClinVar Variation Id: 207621
• ClinVar RCV Id: RCV000189826 ; RCV001852519 ; RCV002321766 ; RCV003895230
• dbSNP Id: rs747162992
• gnomAD v4: 9-132896597-G-A
• MyVariant Identifiers: chr9:g.135771984G>A (hg19) ; chr9:g.132896597G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.132896597G>A , CM000671.2:g.132896597G>A	GRCh38
NC_000009.11:g.135771984G>A , CM000671.1:g.135771984G>A	GRCh37
NC_000009.10:g.134761805G>A	NCBI36
NG_012386.1:g.53037C>T , LRG_486:g.53037C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475903.7:c.3130C>T	ENSP00000496126.2:p.Leu1044Phe
ENST00000490179.4:c.3133C>T	ENSP00000495533.2:p.Leu1045Phe
ENST00000642261.2:c.*989C>T	ENSP00000494743.2:n.*989C>T
ENST00000643275.2:c.*1073C>T	ENSP00000495598.2:n.*1073C>T
ENST00000643362.2:c.2746C>T	ENSP00000496398.2:p.Leu916Phe
ENST00000643625.2:c.*875C>T	ENSP00000495546.2:n.*875C>T
ENST00000643691.2:c.2770C>T	ENSP00000494916.2:p.Leu924Phe
ENST00000644184.2:c.3091C>T	ENSP00000495428.2:p.Leu1031Phe
ENST00000645129.2:c.2977C>T	ENSP00000493639.2:p.Leu993Phe
ENST00000646440.2:c.3133C>T	ENSP00000495830.2:p.Leu1045Phe
ENST00000298552.9:c.3133C>T MANE Select	ENSP00000298552.3:p.Leu1045Phe
ENST00000642261.1:c.1270C>T
ENST00000642617.1:c.3130C>T	ENSP00000493773.1:p.Leu1044Phe
ENST00000642627.1:c.3115C>T	ENSP00000496772.1:p.Leu1039Phe
ENST00000642811.1:c.*2903C>T	ENSP00000495554.1:n.*2903C>T
ENST00000643072.1:c.2980C>T	ENSP00000496691.1:p.Leu994Phe
ENST00000643275.1:c.1607C>T	ENSP00000495598.1:n.1607C>T
ENST00000643583.1:c.3118C>T	ENSP00000494685.1:p.Leu1040Phe
ENST00000643625.1:c.1010C>T	ENSP00000495546.1:n.1010C>T
ENST00000643875.1:c.3133C>T	ENSP00000495158.1:p.Leu1045Phe
ENST00000644097.1:c.3130C>T	ENSP00000494682.1:p.Leu1044Phe
ENST00000644184.1:c.1828C>T	ENSP00000495428.1:p.Leu610Phe
ENST00000644255.1:c.*2900C>T	ENSP00000493608.1:n.*2900C>T
ENST00000644319.1:n.3508C>T
ENST00000644786.1:n.792C>T
ENST00000644882.1:n.2041C>T
ENST00000645901.1:n.3984C>T
ENST00000646391.1:c.*2903C>T	ENSP00000494104.1:n.*2903C>T
ENST00000646625.1:c.3133C>T	ENSP00000496263.1:p.Leu1045Phe
ENST00000647262.1:n.2098C>T
ENST00000647279.1:c.*2372C>T	ENSP00000494502.1:n.*2372C>T
ENST00000647534.1:n.2197C>T
ENST00000298552.7:c.3133C>T	ENSP00000298552.3:p.Leu1045Phe
ENST00000440111.6:c.3133C>T	ENSP00000394524.2:p.Leu1045Phe
ENST00000545250.5:c.2980C>T	ENSP00000444017.1:p.Leu994Phe
NM_000368.4:c.3133C>T , LRG_486t1:c.3133C>T	NP_000359.1:p.Leu1045Phe
NM_001162426.1:c.3130C>T	NP_001155898.1:p.Leu1044Phe
NM_001162427.1:c.2980C>T	NP_001155899.1:p.Leu994Phe
XM_005272211.1:c.3133C>T	XP_005272268.1:p.Leu1045Phe
XM_006717271.1:c.3133C>T	XP_006717334.1:p.Leu1045Phe
XM_011518979.1:c.3133C>T	XP_011517281.1:p.Leu1045Phe
NM_001362177.1:c.2770C>T	NP_001349106.1:p.Leu924Phe
XM_011518979.2:c.3133C>T	XP_011517281.1:p.Leu1045Phe
XM_017015096.1:c.3133C>T	XP_016870585.1:p.Leu1045Phe
XM_017015097.1:c.3133C>T	XP_016870586.1:p.Leu1045Phe
XM_017015098.1:c.3130C>T	XP_016870587.1:p.Leu1044Phe
XM_017015100.1:c.2770C>T	XP_016870589.1:p.Leu924Phe
XM_017015101.1:c.2767C>T	XP_016870590.1:p.Leu923Phe
NM_000368.5:c.3133C>T MANE Select	NP_000359.1:p.Leu1045Phe
NM_001162426.2:c.3130C>T	NP_001155898.1:p.Leu1044Phe
NM_001162427.2:c.2980C>T	NP_001155899.1:p.Leu994Phe
NM_001362177.2:c.2770C>T	NP_001349106.1:p.Leu924Phe