Canonical Allele Identifier: CA375366275

Gene: TSC1

Linked Data

• MyVariant Identifiers: chr9:g.135771636G>A (hg19) ; chr9:g.132896249G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.132896249G>A , CM000671.2:g.132896249G>A	GRCh38
NC_000009.11:g.135771636G>A , CM000671.1:g.135771636G>A	GRCh37
NC_000009.10:g.134761457G>A	NCBI36
NG_012386.1:g.53385C>T , LRG_486:g.53385C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000475903.7:c.3478C>T	ENSP00000496126.2:p.His1160Tyr
ENST00000490179.4:c.3481C>T	ENSP00000495533.2:p.His1161Tyr
ENST00000642261.2:c.*1337C>T	ENSP00000494743.2:n.*1337C>T
ENST00000643275.2:c.*1421C>T	ENSP00000495598.2:n.*1421C>T
ENST00000643362.2:c.3094C>T	ENSP00000496398.2:p.His1032Tyr
ENST00000643625.2:c.*1223C>T	ENSP00000495546.2:n.*1223C>T
ENST00000643691.2:c.3118C>T	ENSP00000494916.2:p.His1040Tyr
ENST00000644184.2:c.3439C>T	ENSP00000495428.2:p.His1147Tyr
ENST00000645129.2:c.3325C>T	ENSP00000493639.2:p.His1109Tyr
ENST00000646440.2:c.3481C>T	ENSP00000495830.2:p.His1161Tyr
ENST00000298552.9:c.3481C>T MANE Select	ENSP00000298552.3:p.His1161Tyr
ENST00000642617.1:c.3478C>T	ENSP00000493773.1:p.His1160Tyr
ENST00000642627.1:c.3463C>T	ENSP00000496772.1:p.His1155Tyr
ENST00000642811.1:c.*3251C>T	ENSP00000495554.1:n.*3251C>T
ENST00000643072.1:c.3328C>T	ENSP00000496691.1:p.His1110Tyr
ENST00000643583.1:c.3466C>T	ENSP00000494685.1:p.His1156Tyr
ENST00000643625.1:c.1358C>T	ENSP00000495546.1:n.1358C>T
ENST00000643875.1:c.3481C>T	ENSP00000495158.1:p.His1161Tyr
ENST00000644097.1:c.3478C>T	ENSP00000494682.1:p.His1160Tyr
ENST00000644184.1:c.2176C>T	ENSP00000495428.1:p.His726Tyr
ENST00000644255.1:c.*3248C>T	ENSP00000493608.1:n.*3248C>T
ENST00000644319.1:n.3856C>T
ENST00000644786.1:n.1140C>T
ENST00000644882.1:n.2389C>T
ENST00000645901.1:n.4332C>T
ENST00000646391.1:c.*3251C>T	ENSP00000494104.1:n.*3251C>T
ENST00000646625.1:c.3481C>T	ENSP00000496263.1:p.His1161Tyr
ENST00000647262.1:n.2446C>T
ENST00000647279.1:c.*2720C>T	ENSP00000494502.1:n.*2720C>T
ENST00000647534.1:n.2545C>T
ENST00000298552.7:c.3481C>T	ENSP00000298552.3:p.His1161Tyr
ENST00000440111.6:c.3481C>T	ENSP00000394524.2:p.His1161Tyr
ENST00000545250.5:c.3328C>T	ENSP00000444017.1:p.His1110Tyr
NM_000368.4:c.3481C>T , LRG_486t1:c.3481C>T	NP_000359.1:p.His1161Tyr
NM_001162426.1:c.3478C>T	NP_001155898.1:p.His1160Tyr
NM_001162427.1:c.3328C>T	NP_001155899.1:p.His1110Tyr
XM_005272211.1:c.3481C>T	XP_005272268.1:p.His1161Tyr
XM_006717271.1:c.3481C>T	XP_006717334.1:p.His1161Tyr
XM_011518979.1:c.3481C>T	XP_011517281.1:p.His1161Tyr
NM_001362177.1:c.3118C>T	NP_001349106.1:p.His1040Tyr
XM_011518979.2:c.3481C>T	XP_011517281.1:p.His1161Tyr
XM_017015096.1:c.3481C>T	XP_016870585.1:p.His1161Tyr
XM_017015097.1:c.3481C>T	XP_016870586.1:p.His1161Tyr
XM_017015098.1:c.3478C>T	XP_016870587.1:p.His1160Tyr
XM_017015100.1:c.3118C>T	XP_016870589.1:p.His1040Tyr
XM_017015101.1:c.3115C>T	XP_016870590.1:p.His1039Tyr
NM_000368.5:c.3481C>T MANE Select	NP_000359.1:p.His1161Tyr
NM_001162426.2:c.3478C>T	NP_001155898.1:p.His1160Tyr
NM_001162427.2:c.3328C>T	NP_001155899.1:p.His1110Tyr
NM_001362177.2:c.3118C>T	NP_001349106.1:p.His1040Tyr