Canonical Allele Identifier: CA375369865

Gene: TSC1

Linked Data

• ClinVar Variation Id: 1044288
• ClinVar RCV Id: RCV001348512
• dbSNP Id: rs1166302175
• gnomAD v2: 9-135776115-G-A
• gnomAD v4: 9-132900728-G-A
• MyVariant Identifiers: chr9:g.135776115G>A (hg19) ; chr9:g.132900728G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.132900728G>A , CM000671.2:g.132900728G>A	GRCh38
NC_000009.11:g.135776115G>A , CM000671.1:g.135776115G>A	GRCh37
NC_000009.10:g.134765936G>A	NCBI36
NG_012386.1:g.48906C>T , LRG_486:g.48906C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000475903.7:c.2609C>T	ENSP00000496126.2:p.Ser870Leu
ENST00000490179.4:c.2612C>T	ENSP00000495533.2:p.Ser871Leu
ENST00000642261.2:c.*391C>T	ENSP00000494743.2:n.*391C>T
ENST00000643275.2:c.*552C>T	ENSP00000495598.2:n.*552C>T
ENST00000643362.2:c.2225C>T	ENSP00000496398.2:p.Ser742Leu
ENST00000643625.2:c.*354C>T	ENSP00000495546.2:n.*354C>T
ENST00000643691.2:c.2249C>T	ENSP00000494916.2:p.Ser750Leu
ENST00000644184.2:c.2570C>T	ENSP00000495428.2:p.Ser857Leu
ENST00000645129.2:c.2456C>T	ENSP00000493639.2:p.Ser819Leu
ENST00000646440.2:c.2612C>T	ENSP00000495830.2:p.Ser871Leu
ENST00000298552.9:c.2612C>T MANE Select	ENSP00000298552.3:p.Ser871Leu
ENST00000642261.1:c.672C>T
ENST00000642617.1:c.2609C>T	ENSP00000493773.1:p.Ser870Leu
ENST00000642627.1:c.2594C>T	ENSP00000496772.1:p.Ser865Leu
ENST00000642811.1:c.*2382C>T	ENSP00000495554.1:n.*2382C>T
ENST00000643072.1:c.2459C>T	ENSP00000496691.1:p.Ser820Leu
ENST00000643275.1:c.1086C>T	ENSP00000495598.1:n.1086C>T
ENST00000643583.1:c.2597C>T	ENSP00000494685.1:p.Ser866Leu
ENST00000643625.1:c.489C>T	ENSP00000495546.1:n.489C>T
ENST00000643875.1:c.2612C>T	ENSP00000495158.1:p.Ser871Leu
ENST00000644097.1:c.2609C>T	ENSP00000494682.1:p.Ser870Leu
ENST00000644184.1:c.1307C>T	ENSP00000495428.1:p.Ser436Leu
ENST00000644255.1:c.*2379C>T	ENSP00000493608.1:n.*2379C>T
ENST00000644319.1:n.2987C>T
ENST00000644786.1:n.271C>T
ENST00000644882.1:n.1525C>T
ENST00000645901.1:n.3463C>T
ENST00000646391.1:c.*2382C>T	ENSP00000494104.1:n.*2382C>T
ENST00000646625.1:c.2612C>T	ENSP00000496263.1:p.Ser871Leu
ENST00000647262.1:n.1577C>T
ENST00000647279.1:c.*1851C>T	ENSP00000494502.1:n.*1851C>T
ENST00000647506.1:n.3488C>T
ENST00000647534.1:n.1676C>T
ENST00000298552.7:c.2612C>T	ENSP00000298552.3:p.Ser871Leu
ENST00000440111.6:c.2612C>T	ENSP00000394524.2:p.Ser871Leu
ENST00000545250.5:c.2459C>T	ENSP00000444017.1:p.Ser820Leu
NM_000368.4:c.2612C>T , LRG_486t1:c.2612C>T	NP_000359.1:p.Ser871Leu
NM_001162426.1:c.2609C>T	NP_001155898.1:p.Ser870Leu
NM_001162427.1:c.2459C>T	NP_001155899.1:p.Ser820Leu
XM_005272211.1:c.2612C>T	XP_005272268.1:p.Ser871Leu
XM_006717271.1:c.2612C>T	XP_006717334.1:p.Ser871Leu
XM_011518979.1:c.2612C>T	XP_011517281.1:p.Ser871Leu
NM_001362177.1:c.2249C>T	NP_001349106.1:p.Ser750Leu
XM_011518979.2:c.2612C>T	XP_011517281.1:p.Ser871Leu
XM_017015096.1:c.2612C>T	XP_016870585.1:p.Ser871Leu
XM_017015097.1:c.2612C>T	XP_016870586.1:p.Ser871Leu
XM_017015098.1:c.2609C>T	XP_016870587.1:p.Ser870Leu
XM_017015100.1:c.2249C>T	XP_016870589.1:p.Ser750Leu
XM_017015101.1:c.2246C>T	XP_016870590.1:p.Ser749Leu
NM_000368.5:c.2612C>T MANE Select	NP_000359.1:p.Ser871Leu
NM_001162426.2:c.2609C>T	NP_001155898.1:p.Ser870Leu
NM_001162427.2:c.2459C>T	NP_001155899.1:p.Ser820Leu
NM_001362177.2:c.2249C>T	NP_001349106.1:p.Ser750Leu