Canonical Allele Identifier: CA006734

Gene: TSC1

Linked Data

• ClinVar Variation Id: 48982
• ClinVar RCV Id: RCV000042233 ; RCV000793960
• dbSNP Id: rs118203717
• gnomAD v4: 9-132897612-T-C
• MyVariant Identifiers: chr9:g.135772999T>C (hg19) ; chr9:g.132897612T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.132897612T>C , CM000671.2:g.132897612T>C	GRCh38
NC_000009.11:g.135772999T>C , CM000671.1:g.135772999T>C	GRCh37
NC_000009.10:g.134762820T>C	NCBI36
NG_012386.1:g.52022A>G , LRG_486:g.52022A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475903.7:c.2623-2A>G	ENSP00000496126.2:n.2623-2A>G
ENST00000490179.4:c.2626-2A>G	ENSP00000495533.2:n.2626-2A>G
ENST00000642261.2:c.*405-2A>G	ENSP00000494743.2:n.*405-2A>G
ENST00000643275.2:c.*566-2A>G	ENSP00000495598.2:n.*566-2A>G
ENST00000643362.2:c.2239-2A>G	ENSP00000496398.2:n.2239-2A>G
ENST00000643625.2:c.*368-2A>G	ENSP00000495546.2:n.*368-2A>G
ENST00000643691.2:c.2263-2A>G	ENSP00000494916.2:n.2263-2A>G
ENST00000644184.2:c.2584-2A>G	ENSP00000495428.2:n.2584-2A>G
ENST00000645129.2:c.2470-2A>G	ENSP00000493639.2:n.2470-2A>G
ENST00000646440.2:c.2626-2A>G	ENSP00000495830.2:n.2626-2A>G
ENST00000298552.9:c.2626-2A>G MANE Select	ENSP00000298552.3:n.2626-2A>G
ENST00000642261.1:c.686-2A>G
ENST00000642617.1:c.2623-2A>G	ENSP00000493773.1:n.2623-2A>G
ENST00000642627.1:c.2608-2A>G	ENSP00000496772.1:n.2608-2A>G
ENST00000642811.1:c.*2396-2A>G	ENSP00000495554.1:n.*2396-2A>G
ENST00000643072.1:c.2473-2A>G	ENSP00000496691.1:n.2473-2A>G
ENST00000643275.1:c.1100-2A>G	ENSP00000495598.1:n.1100-2A>G
ENST00000643583.1:c.2611-2A>G	ENSP00000494685.1:n.2611-2A>G
ENST00000643625.1:c.503-2A>G	ENSP00000495546.1:n.503-2A>G
ENST00000643875.1:c.2626-2A>G	ENSP00000495158.1:n.2626-2A>G
ENST00000644097.1:c.2623-2A>G	ENSP00000494682.1:n.2623-2A>G
ENST00000644184.1:c.1321-2A>G	ENSP00000495428.1:n.1321-2A>G
ENST00000644255.1:c.*2393-2A>G	ENSP00000493608.1:n.*2393-2A>G
ENST00000644319.1:n.3001-2A>G
ENST00000644786.1:n.285-2A>G
ENST00000644882.1:n.1539-2A>G
ENST00000645901.1:n.3477-2A>G
ENST00000646391.1:c.*2396-2A>G	ENSP00000494104.1:n.*2396-2A>G
ENST00000646625.1:c.2626-2A>G	ENSP00000496263.1:n.2626-2A>G
ENST00000647262.1:n.1591-2A>G
ENST00000647279.1:c.*1865-2A>G	ENSP00000494502.1:n.*1865-2A>G
ENST00000647534.1:n.1690-2A>G
ENST00000298552.7:c.2626-2A>G	ENSP00000298552.3:n.2626-2A>G
ENST00000440111.6:c.2626-2A>G	ENSP00000394524.2:n.2626-2A>G
ENST00000545250.5:c.2473-2A>G	ENSP00000444017.1:n.2473-2A>G
NM_000368.4:c.2626-2A>G , LRG_486t1:c.2626-2A>G	NP_000359.1:n.2626-2A>G
NM_001162426.1:c.2623-2A>G	NP_001155898.1:n.2623-2A>G
NM_001162427.1:c.2473-2A>G	NP_001155899.1:n.2473-2A>G
XM_005272211.1:c.2626-2A>G	XP_005272268.1:n.2626-2A>G
XM_006717271.1:c.2626-2A>G	XP_006717334.1:n.2626-2A>G
XM_011518979.1:c.2626-2A>G	XP_011517281.1:n.2626-2A>G
NM_001362177.1:c.2263-2A>G	NP_001349106.1:n.2263-2A>G
XM_011518979.2:c.2626-2A>G	XP_011517281.1:n.2626-2A>G
XM_017015096.1:c.2626-2A>G	XP_016870585.1:n.2626-2A>G
XM_017015097.1:c.2626-2A>G	XP_016870586.1:n.2626-2A>G
XM_017015098.1:c.2623-2A>G	XP_016870587.1:n.2623-2A>G
XM_017015100.1:c.2263-2A>G	XP_016870589.1:n.2263-2A>G
XM_017015101.1:c.2260-2A>G	XP_016870590.1:n.2260-2A>G
NM_000368.5:c.2626-2A>G MANE Select	NP_000359.1:n.2626-2A>G
NM_001162426.2:c.2623-2A>G	NP_001155898.1:n.2623-2A>G
NM_001162427.2:c.2473-2A>G	NP_001155899.1:n.2473-2A>G
NM_001362177.2:c.2263-2A>G	NP_001349106.1:n.2263-2A>G