Canonical Allele Identifier: CA16612572

Gene: TSC1

Linked Data

• ClinVar Variation Id: 411278
• ClinVar RCV Id: RCV000463910
• dbSNP Id: rs1060503224
• MyVariant Identifiers: chr9:g.135777991C>G (hg19) ; chr9:g.132902604C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.132902604C>G , CM000671.2:g.132902604C>G	GRCh38
NC_000009.11:g.135777991C>G , CM000671.1:g.135777991C>G	GRCh37
NC_000009.10:g.134767812C>G	NCBI36
NG_012386.1:g.47030G>C , LRG_486:g.47030G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475903.7:c.2388+1G>C	ENSP00000496126.2:n.2388+1G>C
ENST00000490179.4:c.2391+1G>C	ENSP00000495533.2:n.2391+1G>C
ENST00000642261.2:c.*170+1G>C	ENSP00000494743.2:n.*170+1G>C
ENST00000643275.2:c.*331+1G>C	ENSP00000495598.2:n.*331+1G>C
ENST00000643362.2:c.2004+1G>C	ENSP00000496398.2:n.2004+1G>C
ENST00000643625.2:c.*133+1G>C	ENSP00000495546.2:n.*133+1G>C
ENST00000643691.2:c.2028+1G>C	ENSP00000494916.2:n.2028+1G>C
ENST00000644184.2:c.2391+1G>C	ENSP00000495428.2:n.2391+1G>C
ENST00000645129.2:c.2235+1G>C	ENSP00000493639.2:n.2235+1G>C
ENST00000646440.2:c.2391+1G>C	ENSP00000495830.2:n.2391+1G>C
ENST00000298552.9:c.2391+1G>C MANE Select	ENSP00000298552.3:n.2391+1G>C
ENST00000642261.1:c.451+1G>C
ENST00000642617.1:c.2388+1G>C	ENSP00000493773.1:n.2388+1G>C
ENST00000642627.1:c.2373+1G>C	ENSP00000496772.1:n.2373+1G>C
ENST00000642811.1:c.*2161+1G>C	ENSP00000495554.1:n.*2161+1G>C
ENST00000643072.1:c.2238+1G>C	ENSP00000496691.1:n.2238+1G>C
ENST00000643275.1:c.865+1G>C	ENSP00000495598.1:n.865+1G>C
ENST00000643583.1:c.2376+1G>C	ENSP00000494685.1:n.2376+1G>C
ENST00000643625.1:c.268+1G>C	ENSP00000495546.1:n.268+1G>C
ENST00000643875.1:c.2391+1G>C	ENSP00000495158.1:n.2391+1G>C
ENST00000644097.1:c.2388+1G>C	ENSP00000494682.1:n.2388+1G>C
ENST00000644184.1:c.1128+1G>C	ENSP00000495428.1:n.1128+1G>C
ENST00000644255.1:c.*2158+1G>C	ENSP00000493608.1:n.*2158+1G>C
ENST00000644319.1:n.2766+1G>C
ENST00000644882.1:n.1346+1G>C
ENST00000645901.1:n.3242+1G>C
ENST00000646391.1:c.*2161+1G>C	ENSP00000494104.1:n.*2161+1G>C
ENST00000646625.1:c.2391+1G>C	ENSP00000496263.1:n.2391+1G>C
ENST00000647262.1:n.1356+1G>C
ENST00000647279.1:c.*1630+1G>C	ENSP00000494502.1:n.*1630+1G>C
ENST00000647506.1:n.3267+1G>C
ENST00000647534.1:n.1455+1G>C
ENST00000298552.7:c.2391+1G>C	ENSP00000298552.3:n.2391+1G>C
ENST00000440111.6:c.2391+1G>C	ENSP00000394524.2:n.2391+1G>C
ENST00000545250.5:c.2238+1G>C	ENSP00000444017.1:n.2238+1G>C
NM_000368.4:c.2391+1G>C , LRG_486t1:c.2391+1G>C	NP_000359.1:n.2391+1G>C
NM_001162426.1:c.2388+1G>C	NP_001155898.1:n.2388+1G>C
NM_001162427.1:c.2238+1G>C	NP_001155899.1:n.2238+1G>C
XM_005272211.1:c.2391+1G>C	XP_005272268.1:n.2391+1G>C
XM_006717271.1:c.2391+1G>C	XP_006717334.1:n.2391+1G>C
XM_011518979.1:c.2391+1G>C	XP_011517281.1:n.2391+1G>C
NM_001362177.1:c.2028+1G>C	NP_001349106.1:n.2028+1G>C
XM_011518979.2:c.2391+1G>C	XP_011517281.1:n.2391+1G>C
XM_017015096.1:c.2391+1G>C	XP_016870585.1:n.2391+1G>C
XM_017015097.1:c.2391+1G>C	XP_016870586.1:n.2391+1G>C
XM_017015098.1:c.2388+1G>C	XP_016870587.1:n.2388+1G>C
XM_017015100.1:c.2028+1G>C	XP_016870589.1:n.2028+1G>C
XM_017015101.1:c.2025+1G>C	XP_016870590.1:n.2025+1G>C
NM_000368.5:c.2391+1G>C MANE Select	NP_000359.1:n.2391+1G>C
NM_001162426.2:c.2388+1G>C	NP_001155898.1:n.2388+1G>C
NM_001162427.2:c.2238+1G>C	NP_001155899.1:n.2238+1G>C
NM_001362177.2:c.2028+1G>C	NP_001349106.1:n.2028+1G>C