Canonical Allele Identifier: CA467594455

Gene: TSC1

Linked Data

• ClinVar Variation Id: 1567077
• ClinVar RCV Id: RCV002214658
• dbSNP Id: rs1845329120
• COSMIC: COSM4736802
• MyVariant Identifiers: chr9:g.135776147C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.132900760C>T , CM000671.2:g.132900760C>T	GRCh38
NC_000009.11:g.135776147C>T , CM000671.1:g.135776147C>T	GRCh37
NC_000009.10:g.134765968C>T	NCBI36
NG_012386.1:g.48874G>A , LRG_486:g.48874G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000475903.7:c.2577G>A	ENSP00000496126.2:p.Glu859=
ENST00000490179.4:c.2580G>A	ENSP00000495533.2:p.Glu860=
ENST00000642261.2:c.*359G>A	ENSP00000494743.2:n.*359G>A
ENST00000643275.2:c.*520G>A	ENSP00000495598.2:n.*520G>A
ENST00000643362.2:c.2193G>A	ENSP00000496398.2:p.Glu731=
ENST00000643625.2:c.*322G>A	ENSP00000495546.2:n.*322G>A
ENST00000643691.2:c.2217G>A	ENSP00000494916.2:p.Glu739=
ENST00000644184.2:c.2538G>A	ENSP00000495428.2:p.Glu846=
ENST00000645129.2:c.2424G>A	ENSP00000493639.2:p.Glu808=
ENST00000646440.2:c.2580G>A	ENSP00000495830.2:p.Glu860=
ENST00000298552.9:c.2580G>A MANE Select	ENSP00000298552.3:p.Glu860=
ENST00000642261.1:c.640G>A
ENST00000642617.1:c.2577G>A	ENSP00000493773.1:p.Glu859=
ENST00000642627.1:c.2562G>A	ENSP00000496772.1:p.Glu854=
ENST00000642811.1:c.*2350G>A	ENSP00000495554.1:n.*2350G>A
ENST00000643072.1:c.2427G>A	ENSP00000496691.1:p.Glu809=
ENST00000643275.1:c.1054G>A	ENSP00000495598.1:n.1054G>A
ENST00000643583.1:c.2565G>A	ENSP00000494685.1:p.Glu855=
ENST00000643625.1:c.457G>A	ENSP00000495546.1:n.457G>A
ENST00000643875.1:c.2580G>A	ENSP00000495158.1:p.Glu860=
ENST00000644097.1:c.2577G>A	ENSP00000494682.1:p.Glu859=
ENST00000644184.1:c.1275G>A	ENSP00000495428.1:p.Glu425=
ENST00000644255.1:c.*2347G>A	ENSP00000493608.1:n.*2347G>A
ENST00000644319.1:n.2955G>A
ENST00000644786.1:n.239G>A
ENST00000644882.1:n.1493G>A
ENST00000645901.1:n.3431G>A
ENST00000646391.1:c.*2350G>A	ENSP00000494104.1:n.*2350G>A
ENST00000646625.1:c.2580G>A	ENSP00000496263.1:p.Glu860=
ENST00000647262.1:n.1545G>A
ENST00000647279.1:c.*1819G>A	ENSP00000494502.1:n.*1819G>A
ENST00000647506.1:n.3456G>A
ENST00000647534.1:n.1644G>A
ENST00000298552.7:c.2580G>A	ENSP00000298552.3:p.Glu860=
ENST00000440111.6:c.2580G>A	ENSP00000394524.2:p.Glu860=
ENST00000545250.5:c.2427G>A	ENSP00000444017.1:p.Glu809=
NM_000368.4:c.2580G>A , LRG_486t1:c.2580G>A	NP_000359.1:p.Glu860=
NM_001162426.1:c.2577G>A	NP_001155898.1:p.Glu859=
NM_001162427.1:c.2427G>A	NP_001155899.1:p.Glu809=
XM_005272211.1:c.2580G>A	XP_005272268.1:p.Glu860=
XM_006717271.1:c.2580G>A	XP_006717334.1:p.Glu860=
XM_011518979.1:c.2580G>A	XP_011517281.1:p.Glu860=
NM_001362177.1:c.2217G>A	NP_001349106.1:p.Glu739=
XM_011518979.2:c.2580G>A	XP_011517281.1:p.Glu860=
XM_017015096.1:c.2580G>A	XP_016870585.1:p.Glu860=
XM_017015097.1:c.2580G>A	XP_016870586.1:p.Glu860=
XM_017015098.1:c.2577G>A	XP_016870587.1:p.Glu859=
XM_017015100.1:c.2217G>A	XP_016870589.1:p.Glu739=
XM_017015101.1:c.2214G>A	XP_016870590.1:p.Glu738=
NM_000368.5:c.2580G>A MANE Select	NP_000359.1:p.Glu860=
NM_001162426.2:c.2577G>A	NP_001155898.1:p.Glu859=
NM_001162427.2:c.2427G>A	NP_001155899.1:p.Glu809=
NM_001362177.2:c.2217G>A	NP_001349106.1:p.Glu739=