Canonical Allele Identifier: CA006565

Gene: TSC1

Linked Data

• ClinVar Variation Id: 48969
• ClinVar RCV Id: RCV000042220 ; RCV000796200 ; RCV001015787
• dbSNP Id: rs118203706
• MyVariant Identifiers: chr9:g.135776220G>C (hg19) ; chr9:g.132900833G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.132900833G>C , CM000671.2:g.132900833G>C	GRCh38
NC_000009.11:g.135776220G>C , CM000671.1:g.135776220G>C	GRCh37
NC_000009.10:g.134766041G>C	NCBI36
NG_012386.1:g.48801C>G , LRG_486:g.48801C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475903.7:c.2504C>G	ENSP00000496126.2:p.Ser835Ter
ENST00000490179.4:c.2507C>G	ENSP00000495533.2:p.Ser836Ter
ENST00000642261.2:c.*286C>G	ENSP00000494743.2:n.*286C>G
ENST00000643275.2:c.*447C>G	ENSP00000495598.2:n.*447C>G
ENST00000643362.2:c.2120C>G	ENSP00000496398.2:p.Ser707Ter
ENST00000643625.2:c.*249C>G	ENSP00000495546.2:n.*249C>G
ENST00000643691.2:c.2144C>G	ENSP00000494916.2:p.Ser715Ter
ENST00000644184.2:c.2465C>G	ENSP00000495428.2:p.Ser822Ter
ENST00000645129.2:c.2351C>G	ENSP00000493639.2:p.Ser784Ter
ENST00000646440.2:c.2507C>G	ENSP00000495830.2:p.Ser836Ter
ENST00000298552.9:c.2507C>G MANE Select	ENSP00000298552.3:p.Ser836Ter
ENST00000642261.1:c.567C>G
ENST00000642617.1:c.2504C>G	ENSP00000493773.1:p.Ser835Ter
ENST00000642627.1:c.2489C>G	ENSP00000496772.1:p.Ser830Ter
ENST00000642811.1:c.*2277C>G	ENSP00000495554.1:n.*2277C>G
ENST00000643072.1:c.2354C>G	ENSP00000496691.1:p.Ser785Ter
ENST00000643275.1:c.981C>G	ENSP00000495598.1:n.981C>G
ENST00000643583.1:c.2492C>G	ENSP00000494685.1:p.Ser831Ter
ENST00000643625.1:c.384C>G	ENSP00000495546.1:n.384C>G
ENST00000643875.1:c.2507C>G	ENSP00000495158.1:p.Ser836Ter
ENST00000644097.1:c.2504C>G	ENSP00000494682.1:p.Ser835Ter
ENST00000644184.1:c.1202C>G	ENSP00000495428.1:p.Ser401Ter
ENST00000644255.1:c.*2274C>G	ENSP00000493608.1:n.*2274C>G
ENST00000644319.1:n.2882C>G
ENST00000644786.1:n.166C>G
ENST00000644882.1:n.1420C>G
ENST00000645901.1:n.3358C>G
ENST00000646391.1:c.*2277C>G	ENSP00000494104.1:n.*2277C>G
ENST00000646625.1:c.2507C>G	ENSP00000496263.1:p.Ser836Ter
ENST00000647262.1:n.1472C>G
ENST00000647279.1:c.*1746C>G	ENSP00000494502.1:n.*1746C>G
ENST00000647506.1:n.3383C>G
ENST00000647534.1:n.1571C>G
ENST00000298552.7:c.2507C>G	ENSP00000298552.3:p.Ser836Ter
ENST00000440111.6:c.2507C>G	ENSP00000394524.2:p.Ser836Ter
ENST00000545250.5:c.2354C>G	ENSP00000444017.1:p.Ser785Ter
NM_000368.4:c.2507C>G , LRG_486t1:c.2507C>G	NP_000359.1:p.Ser836Ter
NM_001162426.1:c.2504C>G	NP_001155898.1:p.Ser835Ter
NM_001162427.1:c.2354C>G	NP_001155899.1:p.Ser785Ter
XM_005272211.1:c.2507C>G	XP_005272268.1:p.Ser836Ter
XM_006717271.1:c.2507C>G	XP_006717334.1:p.Ser836Ter
XM_011518979.1:c.2507C>G	XP_011517281.1:p.Ser836Ter
NM_001362177.1:c.2144C>G	NP_001349106.1:p.Ser715Ter
XM_011518979.2:c.2507C>G	XP_011517281.1:p.Ser836Ter
XM_017015096.1:c.2507C>G	XP_016870585.1:p.Ser836Ter
XM_017015097.1:c.2507C>G	XP_016870586.1:p.Ser836Ter
XM_017015098.1:c.2504C>G	XP_016870587.1:p.Ser835Ter
XM_017015100.1:c.2144C>G	XP_016870589.1:p.Ser715Ter
XM_017015101.1:c.2141C>G	XP_016870590.1:p.Ser714Ter
NM_000368.5:c.2507C>G MANE Select	NP_000359.1:p.Ser836Ter
NM_001162426.2:c.2504C>G	NP_001155898.1:p.Ser835Ter
NM_001162427.2:c.2354C>G	NP_001155899.1:p.Ser785Ter
NM_001362177.2:c.2144C>G	NP_001349106.1:p.Ser715Ter