Canonical Allele Identifier: CA10629352

Gene: TSC1

Linked Data

• ClinVar Variation Id: 365497
• ClinVar RCV Id: RCV000366959 ; RCV000402165
• dbSNP Id: rs886063617
• gnomAD v3: 9-132895787-C-T
• gnomAD v4: 9-132895787-C-T
• MyVariant Identifiers: chr9:g.135771174C>T (hg19) ; chr9:g.132895787C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.132895787C>T , CM000671.2:g.132895787C>T	GRCh38
NC_000009.11:g.135771174C>T , CM000671.1:g.135771174C>T	GRCh37
NC_000009.10:g.134760995C>T	NCBI36
NG_012386.1:g.53847G>A , LRG_486:g.53847G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000475903.7:c.*448G>A	ENSP00000496126.2:n.*448G>A
ENST00000490179.4:c.*448G>A	ENSP00000495533.2:n.*448G>A
ENST00000642261.2:c.*1799G>A	ENSP00000494743.2:n.*1799G>A
ENST00000643275.2:c.*1883G>A	ENSP00000495598.2:n.*1883G>A
ENST00000643362.2:c.*448G>A	ENSP00000496398.2:n.*448G>A
ENST00000643625.2:c.*1685G>A	ENSP00000495546.2:n.*1685G>A
ENST00000643691.2:c.*448G>A	ENSP00000494916.2:n.*448G>A
ENST00000644184.2:c.*448G>A	ENSP00000495428.2:n.*448G>A
ENST00000645129.2:c.*448G>A	ENSP00000493639.2:n.*448G>A
ENST00000646440.2:c.*448G>A	ENSP00000495830.2:n.*448G>A
ENST00000298552.9:c.*448G>A MANE Select	ENSP00000298552.3:n.*448G>A
ENST00000642627.1:c.*448G>A	ENSP00000496772.1:n.*448G>A
ENST00000642811.1:c.*3713G>A	ENSP00000495554.1:n.*3713G>A
ENST00000643625.1:c.1820G>A	ENSP00000495546.1:n.1820G>A
ENST00000643875.1:c.*448G>A	ENSP00000495158.1:n.*448G>A
ENST00000644097.1:c.*448G>A	ENSP00000494682.1:n.*448G>A
ENST00000644184.1:c.2638G>A	ENSP00000495428.1:n.2638G>A
ENST00000644786.1:n.1602G>A
ENST00000644882.1:n.2851G>A
ENST00000645901.1:n.4794G>A
ENST00000646625.1:c.*448G>A	ENSP00000496263.1:n.*448G>A
ENST00000647262.1:n.2908G>A
ENST00000647534.1:n.3007G>A
ENST00000298552.7:c.*448G>A	ENSP00000298552.3:n.*448G>A
ENST00000440111.6:c.*448G>A	ENSP00000394524.2:n.*448G>A
ENST00000545250.5:c.*448G>A	ENSP00000444017.1:n.*448G>A
NM_000368.4:c.*448G>A , LRG_486t1:c.*448G>A	NP_000359.1:n.*448G>A
NM_001162426.1:c.*448G>A	NP_001155898.1:n.*448G>A
NM_001162427.1:c.*448G>A	NP_001155899.1:n.*448G>A
XM_005272211.1:c.*448G>A	XP_005272268.1:n.*448G>A
XM_006717271.1:c.*448G>A	XP_006717334.1:n.*448G>A
XM_011518979.1:c.*448G>A	XP_011517281.1:n.*448G>A
NM_001362177.1:c.*448G>A	NP_001349106.1:n.*448G>A
XM_011518979.2:c.*448G>A	XP_011517281.1:n.*448G>A
XM_017015096.1:c.*448G>A	XP_016870585.1:n.*448G>A
XM_017015097.1:c.*448G>A	XP_016870586.1:n.*448G>A
XM_017015098.1:c.*448G>A	XP_016870587.1:n.*448G>A
XM_017015100.1:c.*448G>A	XP_016870589.1:n.*448G>A
XM_017015101.1:c.*448G>A	XP_016870590.1:n.*448G>A
NM_000368.5:c.*448G>A MANE Select	NP_000359.1:n.*448G>A
NM_001162426.2:c.*448G>A	NP_001155898.1:n.*448G>A
NM_001162427.2:c.*448G>A	NP_001155899.1:n.*448G>A
NM_001362177.2:c.*448G>A	NP_001349106.1:n.*448G>A