Canonical Allele Identifier: CA319252

Gene: TSC1

Linked Data

• ClinVar Variation Id: 207617
• ClinVar RCV Id: RCV000189822 ; RCV000819696 ; RCV001017516 ; RCV003488444
• dbSNP Id: rs796053448
• gnomAD v4: 9-132897233-T-C
• MyVariant Identifiers: chr9:g.135772620T>C (hg19) ; chr9:g.132897233T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.132897233T>C , CM000671.2:g.132897233T>C	GRCh38
NC_000009.11:g.135772620T>C , CM000671.1:g.135772620T>C	GRCh37
NC_000009.10:g.134762441T>C	NCBI36
NG_012386.1:g.52401A>G , LRG_486:g.52401A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475903.7:c.2923A>G	ENSP00000496126.2:p.Lys975Glu
ENST00000490179.4:c.2926A>G	ENSP00000495533.2:p.Lys976Glu
ENST00000642261.2:c.*782A>G	ENSP00000494743.2:n.*782A>G
ENST00000643275.2:c.*866A>G	ENSP00000495598.2:n.*866A>G
ENST00000643362.2:c.2539A>G	ENSP00000496398.2:p.Lys847Glu
ENST00000643625.2:c.*668A>G	ENSP00000495546.2:n.*668A>G
ENST00000643691.2:c.2563A>G	ENSP00000494916.2:p.Lys855Glu
ENST00000644184.2:c.2884A>G	ENSP00000495428.2:p.Lys962Glu
ENST00000645129.2:c.2770A>G	ENSP00000493639.2:p.Lys924Glu
ENST00000646440.2:c.2926A>G	ENSP00000495830.2:p.Lys976Glu
ENST00000298552.9:c.2926A>G MANE Select	ENSP00000298552.3:p.Lys976Glu
ENST00000642261.1:c.1063A>G
ENST00000642617.1:c.2923A>G	ENSP00000493773.1:p.Lys975Glu
ENST00000642627.1:c.2908A>G	ENSP00000496772.1:p.Lys970Glu
ENST00000642811.1:c.*2696A>G	ENSP00000495554.1:n.*2696A>G
ENST00000643072.1:c.2773A>G	ENSP00000496691.1:p.Lys925Glu
ENST00000643275.1:c.1400A>G	ENSP00000495598.1:n.1400A>G
ENST00000643583.1:c.2911A>G	ENSP00000494685.1:p.Lys971Glu
ENST00000643625.1:c.803A>G	ENSP00000495546.1:n.803A>G
ENST00000643875.1:c.2926A>G	ENSP00000495158.1:p.Lys976Glu
ENST00000644097.1:c.2923A>G	ENSP00000494682.1:p.Lys975Glu
ENST00000644184.1:c.1621A>G	ENSP00000495428.1:p.Lys541Glu
ENST00000644255.1:c.*2693A>G	ENSP00000493608.1:n.*2693A>G
ENST00000644319.1:n.3301A>G
ENST00000644786.1:n.585A>G
ENST00000644882.1:n.1834A>G
ENST00000645901.1:n.3777A>G
ENST00000646391.1:c.*2696A>G	ENSP00000494104.1:n.*2696A>G
ENST00000646625.1:c.2926A>G	ENSP00000496263.1:p.Lys976Glu
ENST00000647262.1:n.1891A>G
ENST00000647279.1:c.*2165A>G	ENSP00000494502.1:n.*2165A>G
ENST00000647534.1:n.1990A>G
ENST00000298552.7:c.2926A>G	ENSP00000298552.3:p.Lys976Glu
ENST00000440111.6:c.2926A>G	ENSP00000394524.2:p.Lys976Glu
ENST00000545250.5:c.2773A>G	ENSP00000444017.1:p.Lys925Glu
NM_000368.4:c.2926A>G , LRG_486t1:c.2926A>G	NP_000359.1:p.Lys976Glu
NM_001162426.1:c.2923A>G	NP_001155898.1:p.Lys975Glu
NM_001162427.1:c.2773A>G	NP_001155899.1:p.Lys925Glu
XM_005272211.1:c.2926A>G	XP_005272268.1:p.Lys976Glu
XM_006717271.1:c.2926A>G	XP_006717334.1:p.Lys976Glu
XM_011518979.1:c.2926A>G	XP_011517281.1:p.Lys976Glu
NM_001362177.1:c.2563A>G	NP_001349106.1:p.Lys855Glu
XM_011518979.2:c.2926A>G	XP_011517281.1:p.Lys976Glu
XM_017015096.1:c.2926A>G	XP_016870585.1:p.Lys976Glu
XM_017015097.1:c.2926A>G	XP_016870586.1:p.Lys976Glu
XM_017015098.1:c.2923A>G	XP_016870587.1:p.Lys975Glu
XM_017015100.1:c.2563A>G	XP_016870589.1:p.Lys855Glu
XM_017015101.1:c.2560A>G	XP_016870590.1:p.Lys854Glu
NM_000368.5:c.2926A>G MANE Select	NP_000359.1:p.Lys976Glu
NM_001162426.2:c.2923A>G	NP_001155898.1:p.Lys975Glu
NM_001162427.2:c.2773A>G	NP_001155899.1:p.Lys925Glu
NM_001362177.2:c.2563A>G	NP_001349106.1:p.Lys855Glu