Canonical Allele Identifier: CA006903

Gene: TSC1

Linked Data

• ClinVar Variation Id: 64826
• ClinVar RCV Id: RCV000055019 ; RCV000201112 ; RCV002426611 ; RCV002508192
• dbSNP Id: rs397514871
• COSMIC: COSM4954457
• MyVariant Identifiers: chr9:g.135772925G>A (hg19) ; chr9:g.132897538G>A (hg38)
• PubMed: PMID:15798777 ; PMID:20547222

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.132897538G>A , CM000671.2:g.132897538G>A	GRCh38
NC_000009.11:g.135772925G>A , CM000671.1:g.135772925G>A	GRCh37
NC_000009.10:g.134762746G>A	NCBI36
NG_012386.1:g.52096C>T , LRG_486:g.52096C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475903.7:c.2695C>T	ENSP00000496126.2:p.Gln899Ter
ENST00000490179.4:c.2698C>T	ENSP00000495533.2:p.Gln900Ter
ENST00000642261.2:c.*477C>T	ENSP00000494743.2:n.*477C>T
ENST00000643275.2:c.*638C>T	ENSP00000495598.2:n.*638C>T
ENST00000643362.2:c.2311C>T	ENSP00000496398.2:p.Gln771Ter
ENST00000643625.2:c.*440C>T	ENSP00000495546.2:n.*440C>T
ENST00000643691.2:c.2335C>T	ENSP00000494916.2:p.Gln779Ter
ENST00000644184.2:c.2656C>T	ENSP00000495428.2:p.Gln886Ter
ENST00000645129.2:c.2542C>T	ENSP00000493639.2:p.Gln848Ter
ENST00000646440.2:c.2698C>T	ENSP00000495830.2:p.Gln900Ter
ENST00000298552.9:c.2698C>T MANE Select	ENSP00000298552.3:p.Gln900Ter
ENST00000642261.1:c.758C>T
ENST00000642617.1:c.2695C>T	ENSP00000493773.1:p.Gln899Ter
ENST00000642627.1:c.2680C>T	ENSP00000496772.1:p.Gln894Ter
ENST00000642811.1:c.*2468C>T	ENSP00000495554.1:n.*2468C>T
ENST00000643072.1:c.2545C>T	ENSP00000496691.1:p.Gln849Ter
ENST00000643275.1:c.1172C>T	ENSP00000495598.1:n.1172C>T
ENST00000643583.1:c.2683C>T	ENSP00000494685.1:p.Gln895Ter
ENST00000643625.1:c.575C>T	ENSP00000495546.1:n.575C>T
ENST00000643875.1:c.2698C>T	ENSP00000495158.1:p.Gln900Ter
ENST00000644097.1:c.2695C>T	ENSP00000494682.1:p.Gln899Ter
ENST00000644184.1:c.1393C>T	ENSP00000495428.1:p.Gln465Ter
ENST00000644255.1:c.*2465C>T	ENSP00000493608.1:n.*2465C>T
ENST00000644319.1:n.3073C>T
ENST00000644786.1:n.357C>T
ENST00000644882.1:n.1611C>T
ENST00000645901.1:n.3549C>T
ENST00000646391.1:c.*2468C>T	ENSP00000494104.1:n.*2468C>T
ENST00000646625.1:c.2698C>T	ENSP00000496263.1:p.Gln900Ter
ENST00000647262.1:n.1663C>T
ENST00000647279.1:c.*1937C>T	ENSP00000494502.1:n.*1937C>T
ENST00000647534.1:n.1762C>T
ENST00000298552.7:c.2698C>T	ENSP00000298552.3:p.Gln900Ter
ENST00000440111.6:c.2698C>T	ENSP00000394524.2:p.Gln900Ter
ENST00000545250.5:c.2545C>T	ENSP00000444017.1:p.Gln849Ter
NM_000368.4:c.2698C>T , LRG_486t1:c.2698C>T	NP_000359.1:p.Gln900Ter
NM_001162426.1:c.2695C>T	NP_001155898.1:p.Gln899Ter
NM_001162427.1:c.2545C>T	NP_001155899.1:p.Gln849Ter
XM_005272211.1:c.2698C>T	XP_005272268.1:p.Gln900Ter
XM_006717271.1:c.2698C>T	XP_006717334.1:p.Gln900Ter
XM_011518979.1:c.2698C>T	XP_011517281.1:p.Gln900Ter
NM_001362177.1:c.2335C>T	NP_001349106.1:p.Gln779Ter
XM_011518979.2:c.2698C>T	XP_011517281.1:p.Gln900Ter
XM_017015096.1:c.2698C>T	XP_016870585.1:p.Gln900Ter
XM_017015097.1:c.2698C>T	XP_016870586.1:p.Gln900Ter
XM_017015098.1:c.2695C>T	XP_016870587.1:p.Gln899Ter
XM_017015100.1:c.2335C>T	XP_016870589.1:p.Gln779Ter
XM_017015101.1:c.2332C>T	XP_016870590.1:p.Gln778Ter
NM_000368.5:c.2698C>T MANE Select	NP_000359.1:p.Gln900Ter
NM_001162426.2:c.2695C>T	NP_001155898.1:p.Gln899Ter
NM_001162427.2:c.2545C>T	NP_001155899.1:p.Gln849Ter
NM_001362177.2:c.2335C>T	NP_001349106.1:p.Gln779Ter