Canonical Allele Identifier: CA006876

Gene: TSC1

Linked Data

• ClinVar Variation Id: 48992
• ClinVar RCV Id: RCV000042243 ; RCV000491065 ; RCV000538905
• dbSNP Id: rs118203728
• MyVariant Identifiers: chr9:g.135772931G>A (hg19) ; chr9:g.132897544G>A (hg38)
• PubMed: PMID:9803264 ; PMID:12015165

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.132897544G>A , CM000671.2:g.132897544G>A	GRCh38
NC_000009.11:g.135772931G>A , CM000671.1:g.135772931G>A	GRCh37
NC_000009.10:g.134762752G>A	NCBI36
NG_012386.1:g.52090C>T , LRG_486:g.52090C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000475903.7:c.2689C>T	ENSP00000496126.2:p.Gln897Ter
ENST00000490179.4:c.2692C>T	ENSP00000495533.2:p.Gln898Ter
ENST00000642261.2:c.*471C>T	ENSP00000494743.2:n.*471C>T
ENST00000643275.2:c.*632C>T	ENSP00000495598.2:n.*632C>T
ENST00000643362.2:c.2305C>T	ENSP00000496398.2:p.Gln769Ter
ENST00000643625.2:c.*434C>T	ENSP00000495546.2:n.*434C>T
ENST00000643691.2:c.2329C>T	ENSP00000494916.2:p.Gln777Ter
ENST00000644184.2:c.2650C>T	ENSP00000495428.2:p.Gln884Ter
ENST00000645129.2:c.2536C>T	ENSP00000493639.2:p.Gln846Ter
ENST00000646440.2:c.2692C>T	ENSP00000495830.2:p.Gln898Ter
ENST00000298552.9:c.2692C>T MANE Select	ENSP00000298552.3:p.Gln898Ter
ENST00000642261.1:c.752C>T
ENST00000642617.1:c.2689C>T	ENSP00000493773.1:p.Gln897Ter
ENST00000642627.1:c.2674C>T	ENSP00000496772.1:p.Gln892Ter
ENST00000642811.1:c.*2462C>T	ENSP00000495554.1:n.*2462C>T
ENST00000643072.1:c.2539C>T	ENSP00000496691.1:p.Gln847Ter
ENST00000643275.1:c.1166C>T	ENSP00000495598.1:n.1166C>T
ENST00000643583.1:c.2677C>T	ENSP00000494685.1:p.Gln893Ter
ENST00000643625.1:c.569C>T	ENSP00000495546.1:n.569C>T
ENST00000643875.1:c.2692C>T	ENSP00000495158.1:p.Gln898Ter
ENST00000644097.1:c.2689C>T	ENSP00000494682.1:p.Gln897Ter
ENST00000644184.1:c.1387C>T	ENSP00000495428.1:p.Gln463Ter
ENST00000644255.1:c.*2459C>T	ENSP00000493608.1:n.*2459C>T
ENST00000644319.1:n.3067C>T
ENST00000644786.1:n.351C>T
ENST00000644882.1:n.1605C>T
ENST00000645901.1:n.3543C>T
ENST00000646391.1:c.*2462C>T	ENSP00000494104.1:n.*2462C>T
ENST00000646625.1:c.2692C>T	ENSP00000496263.1:p.Gln898Ter
ENST00000647262.1:n.1657C>T
ENST00000647279.1:c.*1931C>T	ENSP00000494502.1:n.*1931C>T
ENST00000647534.1:n.1756C>T
ENST00000298552.7:c.2692C>T	ENSP00000298552.3:p.Gln898Ter
ENST00000440111.6:c.2692C>T	ENSP00000394524.2:p.Gln898Ter
ENST00000545250.5:c.2539C>T	ENSP00000444017.1:p.Gln847Ter
NM_000368.4:c.2692C>T , LRG_486t1:c.2692C>T	NP_000359.1:p.Gln898Ter
NM_001162426.1:c.2689C>T	NP_001155898.1:p.Gln897Ter
NM_001162427.1:c.2539C>T	NP_001155899.1:p.Gln847Ter
XM_005272211.1:c.2692C>T	XP_005272268.1:p.Gln898Ter
XM_006717271.1:c.2692C>T	XP_006717334.1:p.Gln898Ter
XM_011518979.1:c.2692C>T	XP_011517281.1:p.Gln898Ter
NM_001362177.1:c.2329C>T	NP_001349106.1:p.Gln777Ter
XM_011518979.2:c.2692C>T	XP_011517281.1:p.Gln898Ter
XM_017015096.1:c.2692C>T	XP_016870585.1:p.Gln898Ter
XM_017015097.1:c.2692C>T	XP_016870586.1:p.Gln898Ter
XM_017015098.1:c.2689C>T	XP_016870587.1:p.Gln897Ter
XM_017015100.1:c.2329C>T	XP_016870589.1:p.Gln777Ter
XM_017015101.1:c.2326C>T	XP_016870590.1:p.Gln776Ter
NM_000368.5:c.2692C>T MANE Select	NP_000359.1:p.Gln898Ter
NM_001162426.2:c.2689C>T	NP_001155898.1:p.Gln897Ter
NM_001162427.2:c.2539C>T	NP_001155899.1:p.Gln847Ter
NM_001362177.2:c.2329C>T	NP_001349106.1:p.Gln777Ter