Canonical Allele Identifier: CA10632935

Gene: TSC1

Linked Data

• ClinVar Variation Id: 365397
• ClinVar RCV Id: RCV000302039 ; RCV000390304
• dbSNP Id: rs886063567
• gnomAD v4: 9-132891987-G-T
• MyVariant Identifiers: chr9:g.135767374G>T (hg19) ; chr9:g.132891987G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.132891987G>T , CM000671.2:g.132891987G>T	GRCh38
NC_000009.11:g.135767374G>T , CM000671.1:g.135767374G>T	GRCh37
NC_000009.10:g.134757195G>T	NCBI36
NG_012386.1:g.57647C>A , LRG_486:g.57647C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475903.7:c.*4248C>A	ENSP00000496126.2:n.*4248C>A
ENST00000490179.4:c.*4248C>A	ENSP00000495533.2:n.*4248C>A
ENST00000642261.2:c.*5599C>A	ENSP00000494743.2:n.*5599C>A
ENST00000643275.2:c.*5683C>A	ENSP00000495598.2:n.*5683C>A
ENST00000643362.2:c.*4248C>A	ENSP00000496398.2:n.*4248C>A
ENST00000643625.2:c.*5485C>A	ENSP00000495546.2:n.*5485C>A
ENST00000643691.2:c.*4248C>A	ENSP00000494916.2:n.*4248C>A
ENST00000644184.2:c.*4248C>A	ENSP00000495428.2:n.*4248C>A
ENST00000645129.2:c.*4248C>A	ENSP00000493639.2:n.*4248C>A
ENST00000646440.2:c.*4248C>A	ENSP00000495830.2:n.*4248C>A
ENST00000298552.9:c.*4248C>A MANE Select	ENSP00000298552.3:n.*4248C>A
ENST00000642627.1:c.*4248C>A	ENSP00000496772.1:n.*4248C>A
ENST00000643625.1:c.5620C>A	ENSP00000495546.1:n.5620C>A
ENST00000644097.1:c.*4248C>A	ENSP00000494682.1:n.*4248C>A
ENST00000644184.1:c.6438C>A	ENSP00000495428.1:n.6438C>A
ENST00000644786.1:n.5402C>A
ENST00000644882.1:n.6651C>A
ENST00000646625.1:c.*4248C>A	ENSP00000496263.1:n.*4248C>A
ENST00000647534.1:n.6807C>A
ENST00000298552.7:c.*4248C>A	ENSP00000298552.3:n.*4248C>A
ENST00000440111.6:c.*4248C>A	ENSP00000394524.2:n.*4248C>A
ENST00000545250.5:c.*4248C>A	ENSP00000444017.1:n.*4248C>A
NM_000368.4:c.*4248C>A , LRG_486t1:c.*4248C>A	NP_000359.1:n.*4248C>A
NM_001162426.1:c.*4248C>A	NP_001155898.1:n.*4248C>A
NM_001162427.1:c.*4248C>A	NP_001155899.1:n.*4248C>A
XM_005272211.1:c.*4248C>A	XP_005272268.1:n.*4248C>A
XM_006717271.1:c.*4248C>A	XP_006717334.1:n.*4248C>A
XM_011518979.1:c.*4248C>A	XP_011517281.1:n.*4248C>A
NM_001362177.1:c.*4248C>A	NP_001349106.1:n.*4248C>A
XM_011518979.2:c.*4248C>A	XP_011517281.1:n.*4248C>A
XM_017015096.1:c.*4248C>A	XP_016870585.1:n.*4248C>A
XM_017015097.1:c.*4248C>A	XP_016870586.1:n.*4248C>A
XM_017015098.1:c.*4248C>A	XP_016870587.1:n.*4248C>A
XM_017015100.1:c.*4248C>A	XP_016870589.1:n.*4248C>A
XM_017015101.1:c.*4248C>A	XP_016870590.1:n.*4248C>A
NM_000368.5:c.*4248C>A MANE Select	NP_000359.1:n.*4248C>A
NM_001162426.2:c.*4248C>A	NP_001155898.1:n.*4248C>A
NM_001162427.2:c.*4248C>A	NP_001155899.1:n.*4248C>A
NM_001362177.2:c.*4248C>A	NP_001349106.1:n.*4248C>A