Canonical Allele Identifier: CA375362216

Gene: TSC1

Linked Data

• ClinVar Variation Id: 999443
• ClinVar RCV Id: RCV001295441
• dbSNP Id: rs1845604585
• MyVariant Identifiers: chr9:g.135780969T>C (hg19) ; chr9:g.132905582T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.132905582T>C , CM000671.2:g.132905582T>C	GRCh38
NC_000009.11:g.135780969T>C , CM000671.1:g.135780969T>C	GRCh37
NC_000009.10:g.134770790T>C	NCBI36
NG_012386.1:g.44052A>G , LRG_486:g.44052A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000475903.7:c.1993A>G	ENSP00000496126.2:p.Lys665Glu
ENST00000490179.4:c.1996A>G	ENSP00000495533.2:p.Lys666Glu
ENST00000642261.2:c.1996A>G	ENSP00000494743.2:p.Lys666Glu
ENST00000643275.2:c.1996A>G	ENSP00000495598.2:p.Lys666Glu
ENST00000643362.2:c.1609A>G	ENSP00000496398.2:p.Lys537Glu
ENST00000643625.2:c.1996A>G	ENSP00000495546.2:p.Lys666Glu
ENST00000643691.2:c.1633A>G	ENSP00000494916.2:p.Lys545Glu
ENST00000644184.2:c.1996A>G	ENSP00000495428.2:p.Lys666Glu
ENST00000645129.2:c.1840A>G	ENSP00000493639.2:p.Lys614Glu
ENST00000646440.2:c.1996A>G	ENSP00000495830.2:p.Lys666Glu
ENST00000298552.9:c.1996A>G MANE Select	ENSP00000298552.3:p.Lys666Glu
ENST00000642261.1:c.60A>G
ENST00000642617.1:c.1993A>G	ENSP00000493773.1:p.Lys665Glu
ENST00000642627.1:c.1993A>G	ENSP00000496772.1:p.Lys665Glu
ENST00000642811.1:c.*1766A>G	ENSP00000495554.1:n.*1766A>G
ENST00000643072.1:c.1843A>G	ENSP00000496691.1:p.Lys615Glu
ENST00000643275.1:c.514A>G	ENSP00000495598.1:p.Lys172Glu
ENST00000643583.1:c.1996A>G	ENSP00000494685.1:p.Lys666Glu
ENST00000643625.1:c.40A>G	ENSP00000495546.1:p.Lys14Glu
ENST00000643875.1:c.1996A>G	ENSP00000495158.1:p.Lys666Glu
ENST00000644097.1:c.1993A>G	ENSP00000494682.1:p.Lys665Glu
ENST00000644184.1:c.733A>G	ENSP00000495428.1:p.Lys245Glu
ENST00000644255.1:c.*1763A>G	ENSP00000493608.1:n.*1763A>G
ENST00000644319.1:n.2371A>G
ENST00000644882.1:n.951A>G
ENST00000645901.1:n.2847A>G
ENST00000646391.1:c.*1766A>G	ENSP00000494104.1:n.*1766A>G
ENST00000646625.1:c.1996A>G	ENSP00000496263.1:p.Lys666Glu
ENST00000647262.1:n.961A>G
ENST00000647279.1:c.*1235A>G	ENSP00000494502.1:n.*1235A>G
ENST00000647506.1:n.2872A>G
ENST00000647534.1:n.1060A>G
ENST00000298552.7:c.1996A>G	ENSP00000298552.3:p.Lys666Glu
ENST00000440111.6:c.1996A>G	ENSP00000394524.2:p.Lys666Glu
ENST00000545250.5:c.1843A>G	ENSP00000444017.1:p.Lys615Glu
NM_000368.4:c.1996A>G , LRG_486t1:c.1996A>G	NP_000359.1:p.Lys666Glu
NM_001162426.1:c.1993A>G	NP_001155898.1:p.Lys665Glu
NM_001162427.1:c.1843A>G	NP_001155899.1:p.Lys615Glu
XM_005272211.1:c.1996A>G	XP_005272268.1:p.Lys666Glu
XM_006717271.1:c.1996A>G	XP_006717334.1:p.Lys666Glu
XM_006717272.2:c.1996A>G	XP_006717335.1:p.Lys666Glu
XM_011518979.1:c.1996A>G	XP_011517281.1:p.Lys666Glu
NM_001362177.1:c.1633A>G	NP_001349106.1:p.Lys545Glu
XM_011518979.2:c.1996A>G	XP_011517281.1:p.Lys666Glu
XM_017015096.1:c.1996A>G	XP_016870585.1:p.Lys666Glu
XM_017015097.1:c.1996A>G	XP_016870586.1:p.Lys666Glu
XM_017015098.1:c.1993A>G	XP_016870587.1:p.Lys665Glu
XM_017015100.1:c.1633A>G	XP_016870589.1:p.Lys545Glu
XM_017015101.1:c.1630A>G	XP_016870590.1:p.Lys544Glu
NM_000368.5:c.1996A>G MANE Select	NP_000359.1:p.Lys666Glu
NM_001162426.2:c.1993A>G	NP_001155898.1:p.Lys665Glu
NM_001162427.2:c.1843A>G	NP_001155899.1:p.Lys615Glu
NM_001362177.2:c.1633A>G	NP_001349106.1:p.Lys545Glu