Canonical Allele Identifier: CA375360618

Gene: TSC1

Linked Data

• ClinVar Variation Id: 1720644
• ClinVar RCV Id: RCV002298362
• MyVariant Identifiers: chr9:g.135779050A>C (hg19) ; chr9:g.132903663A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.132903663A>C , CM000671.2:g.132903663A>C	GRCh38
NC_000009.11:g.135779050A>C , CM000671.1:g.135779050A>C	GRCh37
NC_000009.10:g.134768871A>C	NCBI36
NG_012386.1:g.45971T>G , LRG_486:g.45971T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475903.7:c.2193T>G	ENSP00000496126.2:p.His731Gln
ENST00000490179.4:c.2196T>G	ENSP00000495533.2:p.His732Gln
ENST00000642261.2:c.2196T>G	ENSP00000494743.2:p.His732Gln
ENST00000643275.2:c.*136T>G	ENSP00000495598.2:n.*136T>G
ENST00000643362.2:c.1809T>G	ENSP00000496398.2:p.His603Gln
ENST00000643625.2:c.2041+748T>G	ENSP00000495546.2:n.2041+748T>G
ENST00000643691.2:c.1833T>G	ENSP00000494916.2:p.His611Gln
ENST00000644184.2:c.2196T>G	ENSP00000495428.2:p.His732Gln
ENST00000645129.2:c.2040T>G	ENSP00000493639.2:p.His680Gln
ENST00000646440.2:c.2196T>G	ENSP00000495830.2:p.His732Gln
ENST00000298552.9:c.2196T>G MANE Select	ENSP00000298552.3:p.His732Gln
ENST00000642261.1:c.260T>G
ENST00000642617.1:c.2193T>G	ENSP00000493773.1:p.His731Gln
ENST00000642627.1:c.2178T>G	ENSP00000496772.1:p.His726Gln
ENST00000642811.1:c.*1966T>G	ENSP00000495554.1:n.*1966T>G
ENST00000643072.1:c.2043T>G	ENSP00000496691.1:p.His681Gln
ENST00000643275.1:c.670T>G	ENSP00000495598.1:n.670T>G
ENST00000643583.1:c.2181T>G	ENSP00000494685.1:p.His727Gln
ENST00000643625.1:c.85+748T>G	ENSP00000495546.1:n.85+748T>G
ENST00000643875.1:c.2196T>G	ENSP00000495158.1:p.His732Gln
ENST00000644097.1:c.2193T>G	ENSP00000494682.1:p.His731Gln
ENST00000644184.1:c.933T>G	ENSP00000495428.1:p.His311Gln
ENST00000644255.1:c.*1963T>G	ENSP00000493608.1:n.*1963T>G
ENST00000644319.1:n.2571T>G
ENST00000644882.1:n.1151T>G
ENST00000645901.1:n.3047T>G
ENST00000646391.1:c.*1966T>G	ENSP00000494104.1:n.*1966T>G
ENST00000646625.1:c.2196T>G	ENSP00000496263.1:p.His732Gln
ENST00000647262.1:n.1161T>G
ENST00000647279.1:c.*1435T>G	ENSP00000494502.1:n.*1435T>G
ENST00000647506.1:n.3072T>G
ENST00000647534.1:n.1260T>G
ENST00000298552.7:c.2196T>G	ENSP00000298552.3:p.His732Gln
ENST00000440111.6:c.2196T>G	ENSP00000394524.2:p.His732Gln
ENST00000545250.5:c.2043T>G	ENSP00000444017.1:p.His681Gln
NM_000368.4:c.2196T>G , LRG_486t1:c.2196T>G	NP_000359.1:p.His732Gln
NM_001162426.1:c.2193T>G	NP_001155898.1:p.His731Gln
NM_001162427.1:c.2043T>G	NP_001155899.1:p.His681Gln
XM_005272211.1:c.2196T>G	XP_005272268.1:p.His732Gln
XM_006717271.1:c.2196T>G	XP_006717334.1:p.His732Gln
XM_011518979.1:c.2196T>G	XP_011517281.1:p.His732Gln
NM_001362177.1:c.1833T>G	NP_001349106.1:p.His611Gln
XM_011518979.2:c.2196T>G	XP_011517281.1:p.His732Gln
XM_017015096.1:c.2196T>G	XP_016870585.1:p.His732Gln
XM_017015097.1:c.2196T>G	XP_016870586.1:p.His732Gln
XM_017015098.1:c.2193T>G	XP_016870587.1:p.His731Gln
XM_017015100.1:c.1833T>G	XP_016870589.1:p.His611Gln
XM_017015101.1:c.1830T>G	XP_016870590.1:p.His610Gln
NM_000368.5:c.2196T>G MANE Select	NP_000359.1:p.His732Gln
NM_001162426.2:c.2193T>G	NP_001155898.1:p.His731Gln
NM_001162427.2:c.2043T>G	NP_001155899.1:p.His681Gln
NM_001362177.2:c.1833T>G	NP_001349106.1:p.His611Gln