Canonical Allele Identifier: CA033372

Gene: TSC1

Linked Data

• ClinVar Variation Id: 1102766
• ClinVar RCV Id: RCV001426209
• dbSNP Id: rs547498792
• ExAC: 9:135776207 C / G
• gnomAD v2: 9-135776207-C-G
• gnomAD v4: 9-132900820-C-G
• MyVariant Identifiers: chr9:g.135776207C>G (hg19) ; chr9:g.132900820C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.132900820C>G , CM000671.2:g.132900820C>G	GRCh38
NC_000009.11:g.135776207C>G , CM000671.1:g.135776207C>G	GRCh37
NC_000009.10:g.134766028C>G	NCBI36
NG_012386.1:g.48814G>C , LRG_486:g.48814G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000475903.7:c.2517G>C	ENSP00000496126.2:p.Ser839=
ENST00000490179.4:c.2520G>C	ENSP00000495533.2:p.Ser840=
ENST00000642261.2:c.*299G>C	ENSP00000494743.2:n.*299G>C
ENST00000643275.2:c.*460G>C	ENSP00000495598.2:n.*460G>C
ENST00000643362.2:c.2133G>C	ENSP00000496398.2:p.Ser711=
ENST00000643625.2:c.*262G>C	ENSP00000495546.2:n.*262G>C
ENST00000643691.2:c.2157G>C	ENSP00000494916.2:p.Ser719=
ENST00000644184.2:c.2478G>C	ENSP00000495428.2:p.Ser826=
ENST00000645129.2:c.2364G>C	ENSP00000493639.2:p.Ser788=
ENST00000646440.2:c.2520G>C	ENSP00000495830.2:p.Ser840=
ENST00000298552.9:c.2520G>C MANE Select	ENSP00000298552.3:p.Ser840=
ENST00000642261.1:c.580G>C
ENST00000642617.1:c.2517G>C	ENSP00000493773.1:p.Ser839=
ENST00000642627.1:c.2502G>C	ENSP00000496772.1:p.Ser834=
ENST00000642811.1:c.*2290G>C	ENSP00000495554.1:n.*2290G>C
ENST00000643072.1:c.2367G>C	ENSP00000496691.1:p.Ser789=
ENST00000643275.1:c.994G>C	ENSP00000495598.1:n.994G>C
ENST00000643583.1:c.2505G>C	ENSP00000494685.1:p.Ser835=
ENST00000643625.1:c.397G>C	ENSP00000495546.1:n.397G>C
ENST00000643875.1:c.2520G>C	ENSP00000495158.1:p.Ser840=
ENST00000644097.1:c.2517G>C	ENSP00000494682.1:p.Ser839=
ENST00000644184.1:c.1215G>C	ENSP00000495428.1:p.Ser405=
ENST00000644255.1:c.*2287G>C	ENSP00000493608.1:n.*2287G>C
ENST00000644319.1:n.2895G>C
ENST00000644786.1:n.179G>C
ENST00000644882.1:n.1433G>C
ENST00000645901.1:n.3371G>C
ENST00000646391.1:c.*2290G>C	ENSP00000494104.1:n.*2290G>C
ENST00000646625.1:c.2520G>C	ENSP00000496263.1:p.Ser840=
ENST00000647262.1:n.1485G>C
ENST00000647279.1:c.*1759G>C	ENSP00000494502.1:n.*1759G>C
ENST00000647506.1:n.3396G>C
ENST00000647534.1:n.1584G>C
ENST00000298552.7:c.2520G>C	ENSP00000298552.3:p.Ser840=
ENST00000440111.6:c.2520G>C	ENSP00000394524.2:p.Ser840=
ENST00000545250.5:c.2367G>C	ENSP00000444017.1:p.Ser789=
NM_000368.4:c.2520G>C , LRG_486t1:c.2520G>C	NP_000359.1:p.Ser840=
NM_001162426.1:c.2517G>C	NP_001155898.1:p.Ser839=
NM_001162427.1:c.2367G>C	NP_001155899.1:p.Ser789=
XM_005272211.1:c.2520G>C	XP_005272268.1:p.Ser840=
XM_006717271.1:c.2520G>C	XP_006717334.1:p.Ser840=
XM_011518979.1:c.2520G>C	XP_011517281.1:p.Ser840=
NM_001362177.1:c.2157G>C	NP_001349106.1:p.Ser719=
XM_011518979.2:c.2520G>C	XP_011517281.1:p.Ser840=
XM_017015096.1:c.2520G>C	XP_016870585.1:p.Ser840=
XM_017015097.1:c.2520G>C	XP_016870586.1:p.Ser840=
XM_017015098.1:c.2517G>C	XP_016870587.1:p.Ser839=
XM_017015100.1:c.2157G>C	XP_016870589.1:p.Ser719=
XM_017015101.1:c.2154G>C	XP_016870590.1:p.Ser718=
NM_000368.5:c.2520G>C MANE Select	NP_000359.1:p.Ser840=
NM_001162426.2:c.2517G>C	NP_001155898.1:p.Ser839=
NM_001162427.2:c.2367G>C	NP_001155899.1:p.Ser789=
NM_001362177.2:c.2157G>C	NP_001349106.1:p.Ser719=