Canonical Allele Identifier: CA375366441

Gene: TSC1

Linked Data

• ClinVar Variation Id: 2816096
• ClinVar RCV Id: RCV003613690
• dbSNP Id: rs2131589655
• MyVariant Identifiers: chr9:g.135771713A>T (hg19) ; chr9:g.132896326A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.132896326A>T , CM000671.2:g.132896326A>T	GRCh38
NC_000009.11:g.135771713A>T , CM000671.1:g.135771713A>T	GRCh37
NC_000009.10:g.134761534A>T	NCBI36
NG_012386.1:g.53308T>A , LRG_486:g.53308T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475903.7:c.3401T>A	ENSP00000496126.2:p.Leu1134Gln
ENST00000490179.4:c.3404T>A	ENSP00000495533.2:p.Leu1135Gln
ENST00000642261.2:c.*1260T>A	ENSP00000494743.2:n.*1260T>A
ENST00000643275.2:c.*1344T>A	ENSP00000495598.2:n.*1344T>A
ENST00000643362.2:c.3017T>A	ENSP00000496398.2:p.Leu1006Gln
ENST00000643625.2:c.*1146T>A	ENSP00000495546.2:n.*1146T>A
ENST00000643691.2:c.3041T>A	ENSP00000494916.2:p.Leu1014Gln
ENST00000644184.2:c.3362T>A	ENSP00000495428.2:p.Leu1121Gln
ENST00000645129.2:c.3248T>A	ENSP00000493639.2:p.Leu1083Gln
ENST00000646440.2:c.3404T>A	ENSP00000495830.2:p.Leu1135Gln
ENST00000298552.9:c.3404T>A MANE Select	ENSP00000298552.3:p.Leu1135Gln
ENST00000642617.1:c.3401T>A	ENSP00000493773.1:p.Leu1134Gln
ENST00000642627.1:c.3386T>A	ENSP00000496772.1:p.Leu1129Gln
ENST00000642811.1:c.*3174T>A	ENSP00000495554.1:n.*3174T>A
ENST00000643072.1:c.3251T>A	ENSP00000496691.1:p.Leu1084Gln
ENST00000643583.1:c.3389T>A	ENSP00000494685.1:p.Leu1130Gln
ENST00000643625.1:c.1281T>A	ENSP00000495546.1:n.1281T>A
ENST00000643875.1:c.3404T>A	ENSP00000495158.1:p.Leu1135Gln
ENST00000644097.1:c.3401T>A	ENSP00000494682.1:p.Leu1134Gln
ENST00000644184.1:c.2099T>A	ENSP00000495428.1:p.Leu700Gln
ENST00000644255.1:c.*3171T>A	ENSP00000493608.1:n.*3171T>A
ENST00000644319.1:n.3779T>A
ENST00000644786.1:n.1063T>A
ENST00000644882.1:n.2312T>A
ENST00000645901.1:n.4255T>A
ENST00000646391.1:c.*3174T>A	ENSP00000494104.1:n.*3174T>A
ENST00000646625.1:c.3404T>A	ENSP00000496263.1:p.Leu1135Gln
ENST00000647262.1:n.2369T>A
ENST00000647279.1:c.*2643T>A	ENSP00000494502.1:n.*2643T>A
ENST00000647534.1:n.2468T>A
ENST00000298552.7:c.3404T>A	ENSP00000298552.3:p.Leu1135Gln
ENST00000440111.6:c.3404T>A	ENSP00000394524.2:p.Leu1135Gln
ENST00000545250.5:c.3251T>A	ENSP00000444017.1:p.Leu1084Gln
NM_000368.4:c.3404T>A , LRG_486t1:c.3404T>A	NP_000359.1:p.Leu1135Gln
NM_001162426.1:c.3401T>A	NP_001155898.1:p.Leu1134Gln
NM_001162427.1:c.3251T>A	NP_001155899.1:p.Leu1084Gln
XM_005272211.1:c.3404T>A	XP_005272268.1:p.Leu1135Gln
XM_006717271.1:c.3404T>A	XP_006717334.1:p.Leu1135Gln
XM_011518979.1:c.3404T>A	XP_011517281.1:p.Leu1135Gln
NM_001362177.1:c.3041T>A	NP_001349106.1:p.Leu1014Gln
XM_011518979.2:c.3404T>A	XP_011517281.1:p.Leu1135Gln
XM_017015096.1:c.3404T>A	XP_016870585.1:p.Leu1135Gln
XM_017015097.1:c.3404T>A	XP_016870586.1:p.Leu1135Gln
XM_017015098.1:c.3401T>A	XP_016870587.1:p.Leu1134Gln
XM_017015100.1:c.3041T>A	XP_016870589.1:p.Leu1014Gln
XM_017015101.1:c.3038T>A	XP_016870590.1:p.Leu1013Gln
NM_000368.5:c.3404T>A MANE Select	NP_000359.1:p.Leu1135Gln
NM_001162426.2:c.3401T>A	NP_001155898.1:p.Leu1134Gln
NM_001162427.2:c.3251T>A	NP_001155899.1:p.Leu1084Gln
NM_001362177.2:c.3041T>A	NP_001349106.1:p.Leu1014Gln