Canonical Allele Identifier: CA375369853

Gene: TSC1

Linked Data

• MyVariant Identifiers: chr9:g.135776111A>C (hg19) ; chr9:g.132900724A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.132900724A>C , CM000671.2:g.132900724A>C	GRCh38
NC_000009.11:g.135776111A>C , CM000671.1:g.135776111A>C	GRCh37
NC_000009.10:g.134765932A>C	NCBI36
NG_012386.1:g.48910T>G , LRG_486:g.48910T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000475903.7:c.2613T>G	ENSP00000496126.2:p.Asp871Glu
ENST00000490179.4:c.2616T>G	ENSP00000495533.2:p.Asp872Glu
ENST00000642261.2:c.*395T>G	ENSP00000494743.2:n.*395T>G
ENST00000643275.2:c.*556T>G	ENSP00000495598.2:n.*556T>G
ENST00000643362.2:c.2229T>G	ENSP00000496398.2:p.Asp743Glu
ENST00000643625.2:c.*358T>G	ENSP00000495546.2:n.*358T>G
ENST00000643691.2:c.2253T>G	ENSP00000494916.2:p.Asp751Glu
ENST00000644184.2:c.2574T>G	ENSP00000495428.2:p.Asp858Glu
ENST00000645129.2:c.2460T>G	ENSP00000493639.2:p.Asp820Glu
ENST00000646440.2:c.2616T>G	ENSP00000495830.2:p.Asp872Glu
ENST00000298552.9:c.2616T>G MANE Select	ENSP00000298552.3:p.Asp872Glu
ENST00000642261.1:c.676T>G
ENST00000642617.1:c.2613T>G	ENSP00000493773.1:p.Asp871Glu
ENST00000642627.1:c.2598T>G	ENSP00000496772.1:p.Asp866Glu
ENST00000642811.1:c.*2386T>G	ENSP00000495554.1:n.*2386T>G
ENST00000643072.1:c.2463T>G	ENSP00000496691.1:p.Asp821Glu
ENST00000643275.1:c.1090T>G	ENSP00000495598.1:n.1090T>G
ENST00000643583.1:c.2601T>G	ENSP00000494685.1:p.Asp867Glu
ENST00000643625.1:c.493T>G	ENSP00000495546.1:n.493T>G
ENST00000643875.1:c.2616T>G	ENSP00000495158.1:p.Asp872Glu
ENST00000644097.1:c.2613T>G	ENSP00000494682.1:p.Asp871Glu
ENST00000644184.1:c.1311T>G	ENSP00000495428.1:p.Asp437Glu
ENST00000644255.1:c.*2383T>G	ENSP00000493608.1:n.*2383T>G
ENST00000644319.1:n.2991T>G
ENST00000644786.1:n.275T>G
ENST00000644882.1:n.1529T>G
ENST00000645901.1:n.3467T>G
ENST00000646391.1:c.*2386T>G	ENSP00000494104.1:n.*2386T>G
ENST00000646625.1:c.2616T>G	ENSP00000496263.1:p.Asp872Glu
ENST00000647262.1:n.1581T>G
ENST00000647279.1:c.*1855T>G	ENSP00000494502.1:n.*1855T>G
ENST00000647506.1:n.3492T>G
ENST00000647534.1:n.1680T>G
ENST00000298552.7:c.2616T>G	ENSP00000298552.3:p.Asp872Glu
ENST00000440111.6:c.2616T>G	ENSP00000394524.2:p.Asp872Glu
ENST00000545250.5:c.2463T>G	ENSP00000444017.1:p.Asp821Glu
NM_000368.4:c.2616T>G , LRG_486t1:c.2616T>G	NP_000359.1:p.Asp872Glu
NM_001162426.1:c.2613T>G	NP_001155898.1:p.Asp871Glu
NM_001162427.1:c.2463T>G	NP_001155899.1:p.Asp821Glu
XM_005272211.1:c.2616T>G	XP_005272268.1:p.Asp872Glu
XM_006717271.1:c.2616T>G	XP_006717334.1:p.Asp872Glu
XM_011518979.1:c.2616T>G	XP_011517281.1:p.Asp872Glu
NM_001362177.1:c.2253T>G	NP_001349106.1:p.Asp751Glu
XM_011518979.2:c.2616T>G	XP_011517281.1:p.Asp872Glu
XM_017015096.1:c.2616T>G	XP_016870585.1:p.Asp872Glu
XM_017015097.1:c.2616T>G	XP_016870586.1:p.Asp872Glu
XM_017015098.1:c.2613T>G	XP_016870587.1:p.Asp871Glu
XM_017015100.1:c.2253T>G	XP_016870589.1:p.Asp751Glu
XM_017015101.1:c.2250T>G	XP_016870590.1:p.Asp750Glu
NM_000368.5:c.2616T>G MANE Select	NP_000359.1:p.Asp872Glu
NM_001162426.2:c.2613T>G	NP_001155898.1:p.Asp871Glu
NM_001162427.2:c.2463T>G	NP_001155899.1:p.Asp821Glu
NM_001362177.2:c.2253T>G	NP_001349106.1:p.Asp751Glu