Canonical Allele Identifier: CA375370318

Gene: TSC1

Linked Data

• ClinVar Variation Id: 1061361
• ClinVar RCV Id: RCV001370930 ; RCV002432043
• dbSNP Id: rs2131689008
• gnomAD v4: 9-132900825-C-T
• MyVariant Identifiers: chr9:g.135776212C>T (hg19) ; chr9:g.132900825C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.132900825C>T , CM000671.2:g.132900825C>T	GRCh38
NC_000009.11:g.135776212C>T , CM000671.1:g.135776212C>T	GRCh37
NC_000009.10:g.134766033C>T	NCBI36
NG_012386.1:g.48809G>A , LRG_486:g.48809G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000475903.7:c.2512G>A	ENSP00000496126.2:p.Glu838Lys
ENST00000490179.4:c.2515G>A	ENSP00000495533.2:p.Glu839Lys
ENST00000642261.2:c.*294G>A	ENSP00000494743.2:n.*294G>A
ENST00000643275.2:c.*455G>A	ENSP00000495598.2:n.*455G>A
ENST00000643362.2:c.2128G>A	ENSP00000496398.2:p.Glu710Lys
ENST00000643625.2:c.*257G>A	ENSP00000495546.2:n.*257G>A
ENST00000643691.2:c.2152G>A	ENSP00000494916.2:p.Glu718Lys
ENST00000644184.2:c.2473G>A	ENSP00000495428.2:p.Glu825Lys
ENST00000645129.2:c.2359G>A	ENSP00000493639.2:p.Glu787Lys
ENST00000646440.2:c.2515G>A	ENSP00000495830.2:p.Glu839Lys
ENST00000298552.9:c.2515G>A MANE Select	ENSP00000298552.3:p.Glu839Lys
ENST00000642261.1:c.575G>A
ENST00000642617.1:c.2512G>A	ENSP00000493773.1:p.Glu838Lys
ENST00000642627.1:c.2497G>A	ENSP00000496772.1:p.Glu833Lys
ENST00000642811.1:c.*2285G>A	ENSP00000495554.1:n.*2285G>A
ENST00000643072.1:c.2362G>A	ENSP00000496691.1:p.Glu788Lys
ENST00000643275.1:c.989G>A	ENSP00000495598.1:n.989G>A
ENST00000643583.1:c.2500G>A	ENSP00000494685.1:p.Glu834Lys
ENST00000643625.1:c.392G>A	ENSP00000495546.1:n.392G>A
ENST00000643875.1:c.2515G>A	ENSP00000495158.1:p.Glu839Lys
ENST00000644097.1:c.2512G>A	ENSP00000494682.1:p.Glu838Lys
ENST00000644184.1:c.1210G>A	ENSP00000495428.1:p.Glu404Lys
ENST00000644255.1:c.*2282G>A	ENSP00000493608.1:n.*2282G>A
ENST00000644319.1:n.2890G>A
ENST00000644786.1:n.174G>A
ENST00000644882.1:n.1428G>A
ENST00000645901.1:n.3366G>A
ENST00000646391.1:c.*2285G>A	ENSP00000494104.1:n.*2285G>A
ENST00000646625.1:c.2515G>A	ENSP00000496263.1:p.Glu839Lys
ENST00000647262.1:n.1480G>A
ENST00000647279.1:c.*1754G>A	ENSP00000494502.1:n.*1754G>A
ENST00000647506.1:n.3391G>A
ENST00000647534.1:n.1579G>A
ENST00000298552.7:c.2515G>A	ENSP00000298552.3:p.Glu839Lys
ENST00000440111.6:c.2515G>A	ENSP00000394524.2:p.Glu839Lys
ENST00000545250.5:c.2362G>A	ENSP00000444017.1:p.Glu788Lys
NM_000368.4:c.2515G>A , LRG_486t1:c.2515G>A	NP_000359.1:p.Glu839Lys
NM_001162426.1:c.2512G>A	NP_001155898.1:p.Glu838Lys
NM_001162427.1:c.2362G>A	NP_001155899.1:p.Glu788Lys
XM_005272211.1:c.2515G>A	XP_005272268.1:p.Glu839Lys
XM_006717271.1:c.2515G>A	XP_006717334.1:p.Glu839Lys
XM_011518979.1:c.2515G>A	XP_011517281.1:p.Glu839Lys
NM_001362177.1:c.2152G>A	NP_001349106.1:p.Glu718Lys
XM_011518979.2:c.2515G>A	XP_011517281.1:p.Glu839Lys
XM_017015096.1:c.2515G>A	XP_016870585.1:p.Glu839Lys
XM_017015097.1:c.2515G>A	XP_016870586.1:p.Glu839Lys
XM_017015098.1:c.2512G>A	XP_016870587.1:p.Glu838Lys
XM_017015100.1:c.2152G>A	XP_016870589.1:p.Glu718Lys
XM_017015101.1:c.2149G>A	XP_016870590.1:p.Glu717Lys
NM_000368.5:c.2515G>A MANE Select	NP_000359.1:p.Glu839Lys
NM_001162426.2:c.2512G>A	NP_001155898.1:p.Glu838Lys
NM_001162427.2:c.2362G>A	NP_001155899.1:p.Glu788Lys
NM_001362177.2:c.2152G>A	NP_001349106.1:p.Glu718Lys