Canonical Allele Identifier: CA467590716

Gene: TSC1

Linked Data

• ClinVar Variation Id: 1630125
• ClinVar RCV Id: RCV002120944 ; RCV002416474
• dbSNP Id: rs2131766639
• gnomAD v4: 9-132903741-A-G
• MyVariant Identifiers: chr9:g.135779128A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.132903741A>G , CM000671.2:g.132903741A>G	GRCh38
NC_000009.11:g.135779128A>G , CM000671.1:g.135779128A>G	GRCh37
NC_000009.10:g.134768949A>G	NCBI36
NG_012386.1:g.45893T>C , LRG_486:g.45893T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475903.7:c.2115T>C	ENSP00000496126.2:p.Arg705=
ENST00000490179.4:c.2118T>C	ENSP00000495533.2:p.Arg706=
ENST00000642261.2:c.2118T>C	ENSP00000494743.2:p.Arg706=
ENST00000643275.2:c.*58T>C	ENSP00000495598.2:n.*58T>C
ENST00000643362.2:c.1731T>C	ENSP00000496398.2:p.Arg577=
ENST00000643625.2:c.2041+670T>C	ENSP00000495546.2:n.2041+670T>C
ENST00000643691.2:c.1755T>C	ENSP00000494916.2:p.Arg585=
ENST00000644184.2:c.2118T>C	ENSP00000495428.2:p.Arg706=
ENST00000645129.2:c.1962T>C	ENSP00000493639.2:p.Arg654=
ENST00000646440.2:c.2118T>C	ENSP00000495830.2:p.Arg706=
ENST00000298552.9:c.2118T>C MANE Select	ENSP00000298552.3:p.Arg706=
ENST00000642261.1:c.182T>C
ENST00000642617.1:c.2115T>C	ENSP00000493773.1:p.Arg705=
ENST00000642627.1:c.2100T>C	ENSP00000496772.1:p.Arg700=
ENST00000642811.1:c.*1888T>C	ENSP00000495554.1:n.*1888T>C
ENST00000643072.1:c.1965T>C	ENSP00000496691.1:p.Arg655=
ENST00000643275.1:c.592T>C	ENSP00000495598.1:n.592T>C
ENST00000643583.1:c.2103T>C	ENSP00000494685.1:p.Arg701=
ENST00000643625.1:c.85+670T>C	ENSP00000495546.1:n.85+670T>C
ENST00000643875.1:c.2118T>C	ENSP00000495158.1:p.Arg706=
ENST00000644097.1:c.2115T>C	ENSP00000494682.1:p.Arg705=
ENST00000644184.1:c.855T>C	ENSP00000495428.1:p.Arg285=
ENST00000644255.1:c.*1885T>C	ENSP00000493608.1:n.*1885T>C
ENST00000644319.1:n.2493T>C
ENST00000644882.1:n.1073T>C
ENST00000645901.1:n.2969T>C
ENST00000646391.1:c.*1888T>C	ENSP00000494104.1:n.*1888T>C
ENST00000646625.1:c.2118T>C	ENSP00000496263.1:p.Arg706=
ENST00000647262.1:n.1083T>C
ENST00000647279.1:c.*1357T>C	ENSP00000494502.1:n.*1357T>C
ENST00000647506.1:n.2994T>C
ENST00000647534.1:n.1182T>C
ENST00000298552.7:c.2118T>C	ENSP00000298552.3:p.Arg706=
ENST00000440111.6:c.2118T>C	ENSP00000394524.2:p.Arg706=
ENST00000545250.5:c.1965T>C	ENSP00000444017.1:p.Arg655=
NM_000368.4:c.2118T>C , LRG_486t1:c.2118T>C	NP_000359.1:p.Arg706=
NM_001162426.1:c.2115T>C	NP_001155898.1:p.Arg705=
NM_001162427.1:c.1965T>C	NP_001155899.1:p.Arg655=
XM_005272211.1:c.2118T>C	XP_005272268.1:p.Arg706=
XM_006717271.1:c.2118T>C	XP_006717334.1:p.Arg706=
XM_011518979.1:c.2118T>C	XP_011517281.1:p.Arg706=
NM_001362177.1:c.1755T>C	NP_001349106.1:p.Arg585=
XM_011518979.2:c.2118T>C	XP_011517281.1:p.Arg706=
XM_017015096.1:c.2118T>C	XP_016870585.1:p.Arg706=
XM_017015097.1:c.2118T>C	XP_016870586.1:p.Arg706=
XM_017015098.1:c.2115T>C	XP_016870587.1:p.Arg705=
XM_017015100.1:c.1755T>C	XP_016870589.1:p.Arg585=
XM_017015101.1:c.1752T>C	XP_016870590.1:p.Arg584=
NM_000368.5:c.2118T>C MANE Select	NP_000359.1:p.Arg706=
NM_001162426.2:c.2115T>C	NP_001155898.1:p.Arg705=
NM_001162427.2:c.1965T>C	NP_001155899.1:p.Arg655=
NM_001362177.2:c.1755T>C	NP_001349106.1:p.Arg585=