Canonical Allele Identifier: CA200929116

Gene: TSC1

Linked Data

• dbSNP Id: rs993039009
• MyVariant Identifiers: chr9:g.135776169A>G (hg19) ; chr9:g.132900782A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.132900782A>G , CM000671.2:g.132900782A>G	GRCh38
NC_000009.11:g.135776169A>G , CM000671.1:g.135776169A>G	GRCh37
NC_000009.10:g.134765990A>G	NCBI36
NG_012386.1:g.48852T>C , LRG_486:g.48852T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475903.7:c.2555T>C	ENSP00000496126.2:p.Leu852Ser
ENST00000490179.4:c.2558T>C	ENSP00000495533.2:p.Leu853Ser
ENST00000642261.2:c.*337T>C	ENSP00000494743.2:n.*337T>C
ENST00000643275.2:c.*498T>C	ENSP00000495598.2:n.*498T>C
ENST00000643362.2:c.2171T>C	ENSP00000496398.2:p.Leu724Ser
ENST00000643625.2:c.*300T>C	ENSP00000495546.2:n.*300T>C
ENST00000643691.2:c.2195T>C	ENSP00000494916.2:p.Leu732Ser
ENST00000644184.2:c.2516T>C	ENSP00000495428.2:p.Leu839Ser
ENST00000645129.2:c.2402T>C	ENSP00000493639.2:p.Leu801Ser
ENST00000646440.2:c.2558T>C	ENSP00000495830.2:p.Leu853Ser
ENST00000298552.9:c.2558T>C MANE Select	ENSP00000298552.3:p.Leu853Ser
ENST00000642261.1:c.618T>C
ENST00000642617.1:c.2555T>C	ENSP00000493773.1:p.Leu852Ser
ENST00000642627.1:c.2540T>C	ENSP00000496772.1:p.Leu847Ser
ENST00000642811.1:c.*2328T>C	ENSP00000495554.1:n.*2328T>C
ENST00000643072.1:c.2405T>C	ENSP00000496691.1:p.Leu802Ser
ENST00000643275.1:c.1032T>C	ENSP00000495598.1:n.1032T>C
ENST00000643583.1:c.2543T>C	ENSP00000494685.1:p.Leu848Ser
ENST00000643625.1:c.435T>C	ENSP00000495546.1:n.435T>C
ENST00000643875.1:c.2558T>C	ENSP00000495158.1:p.Leu853Ser
ENST00000644097.1:c.2555T>C	ENSP00000494682.1:p.Leu852Ser
ENST00000644184.1:c.1253T>C	ENSP00000495428.1:p.Leu418Ser
ENST00000644255.1:c.*2325T>C	ENSP00000493608.1:n.*2325T>C
ENST00000644319.1:n.2933T>C
ENST00000644786.1:n.217T>C
ENST00000644882.1:n.1471T>C
ENST00000645901.1:n.3409T>C
ENST00000646391.1:c.*2328T>C	ENSP00000494104.1:n.*2328T>C
ENST00000646625.1:c.2558T>C	ENSP00000496263.1:p.Leu853Ser
ENST00000647262.1:n.1523T>C
ENST00000647279.1:c.*1797T>C	ENSP00000494502.1:n.*1797T>C
ENST00000647506.1:n.3434T>C
ENST00000647534.1:n.1622T>C
ENST00000298552.7:c.2558T>C	ENSP00000298552.3:p.Leu853Ser
ENST00000440111.6:c.2558T>C	ENSP00000394524.2:p.Leu853Ser
ENST00000545250.5:c.2405T>C	ENSP00000444017.1:p.Leu802Ser
NM_000368.4:c.2558T>C , LRG_486t1:c.2558T>C	NP_000359.1:p.Leu853Ser
NM_001162426.1:c.2555T>C	NP_001155898.1:p.Leu852Ser
NM_001162427.1:c.2405T>C	NP_001155899.1:p.Leu802Ser
XM_005272211.1:c.2558T>C	XP_005272268.1:p.Leu853Ser
XM_006717271.1:c.2558T>C	XP_006717334.1:p.Leu853Ser
XM_011518979.1:c.2558T>C	XP_011517281.1:p.Leu853Ser
NM_001362177.1:c.2195T>C	NP_001349106.1:p.Leu732Ser
XM_011518979.2:c.2558T>C	XP_011517281.1:p.Leu853Ser
XM_017015096.1:c.2558T>C	XP_016870585.1:p.Leu853Ser
XM_017015097.1:c.2558T>C	XP_016870586.1:p.Leu853Ser
XM_017015098.1:c.2555T>C	XP_016870587.1:p.Leu852Ser
XM_017015100.1:c.2195T>C	XP_016870589.1:p.Leu732Ser
XM_017015101.1:c.2192T>C	XP_016870590.1:p.Leu731Ser
NM_000368.5:c.2558T>C MANE Select	NP_000359.1:p.Leu853Ser
NM_001162426.2:c.2555T>C	NP_001155898.1:p.Leu852Ser
NM_001162427.2:c.2405T>C	NP_001155899.1:p.Leu802Ser
NM_001362177.2:c.2195T>C	NP_001349106.1:p.Leu732Ser