Canonical Allele Identifier: CA375369968

Gene: TSC1

Linked Data

• MyVariant Identifiers: chr9:g.135776136T>A (hg19) ; chr9:g.132900749T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.132900749T>A , CM000671.2:g.132900749T>A	GRCh38
NC_000009.11:g.135776136T>A , CM000671.1:g.135776136T>A	GRCh37
NC_000009.10:g.134765957T>A	NCBI36
NG_012386.1:g.48885A>T , LRG_486:g.48885A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475903.7:c.2588A>T	ENSP00000496126.2:p.Glu863Val
ENST00000490179.4:c.2591A>T	ENSP00000495533.2:p.Glu864Val
ENST00000642261.2:c.*370A>T	ENSP00000494743.2:n.*370A>T
ENST00000643275.2:c.*531A>T	ENSP00000495598.2:n.*531A>T
ENST00000643362.2:c.2204A>T	ENSP00000496398.2:p.Glu735Val
ENST00000643625.2:c.*333A>T	ENSP00000495546.2:n.*333A>T
ENST00000643691.2:c.2228A>T	ENSP00000494916.2:p.Glu743Val
ENST00000644184.2:c.2549A>T	ENSP00000495428.2:p.Glu850Val
ENST00000645129.2:c.2435A>T	ENSP00000493639.2:p.Glu812Val
ENST00000646440.2:c.2591A>T	ENSP00000495830.2:p.Glu864Val
ENST00000298552.9:c.2591A>T MANE Select	ENSP00000298552.3:p.Glu864Val
ENST00000642261.1:c.651A>T
ENST00000642617.1:c.2588A>T	ENSP00000493773.1:p.Glu863Val
ENST00000642627.1:c.2573A>T	ENSP00000496772.1:p.Glu858Val
ENST00000642811.1:c.*2361A>T	ENSP00000495554.1:n.*2361A>T
ENST00000643072.1:c.2438A>T	ENSP00000496691.1:p.Glu813Val
ENST00000643275.1:c.1065A>T	ENSP00000495598.1:n.1065A>T
ENST00000643583.1:c.2576A>T	ENSP00000494685.1:p.Glu859Val
ENST00000643625.1:c.468A>T	ENSP00000495546.1:n.468A>T
ENST00000643875.1:c.2591A>T	ENSP00000495158.1:p.Glu864Val
ENST00000644097.1:c.2588A>T	ENSP00000494682.1:p.Glu863Val
ENST00000644184.1:c.1286A>T	ENSP00000495428.1:p.Glu429Val
ENST00000644255.1:c.*2358A>T	ENSP00000493608.1:n.*2358A>T
ENST00000644319.1:n.2966A>T
ENST00000644786.1:n.250A>T
ENST00000644882.1:n.1504A>T
ENST00000645901.1:n.3442A>T
ENST00000646391.1:c.*2361A>T	ENSP00000494104.1:n.*2361A>T
ENST00000646625.1:c.2591A>T	ENSP00000496263.1:p.Glu864Val
ENST00000647262.1:n.1556A>T
ENST00000647279.1:c.*1830A>T	ENSP00000494502.1:n.*1830A>T
ENST00000647506.1:n.3467A>T
ENST00000647534.1:n.1655A>T
ENST00000298552.7:c.2591A>T	ENSP00000298552.3:p.Glu864Val
ENST00000440111.6:c.2591A>T	ENSP00000394524.2:p.Glu864Val
ENST00000545250.5:c.2438A>T	ENSP00000444017.1:p.Glu813Val
NM_000368.4:c.2591A>T , LRG_486t1:c.2591A>T	NP_000359.1:p.Glu864Val
NM_001162426.1:c.2588A>T	NP_001155898.1:p.Glu863Val
NM_001162427.1:c.2438A>T	NP_001155899.1:p.Glu813Val
XM_005272211.1:c.2591A>T	XP_005272268.1:p.Glu864Val
XM_006717271.1:c.2591A>T	XP_006717334.1:p.Glu864Val
XM_011518979.1:c.2591A>T	XP_011517281.1:p.Glu864Val
NM_001362177.1:c.2228A>T	NP_001349106.1:p.Glu743Val
XM_011518979.2:c.2591A>T	XP_011517281.1:p.Glu864Val
XM_017015096.1:c.2591A>T	XP_016870585.1:p.Glu864Val
XM_017015097.1:c.2591A>T	XP_016870586.1:p.Glu864Val
XM_017015098.1:c.2588A>T	XP_016870587.1:p.Glu863Val
XM_017015100.1:c.2228A>T	XP_016870589.1:p.Glu743Val
XM_017015101.1:c.2225A>T	XP_016870590.1:p.Glu742Val
NM_000368.5:c.2591A>T MANE Select	NP_000359.1:p.Glu864Val
NM_001162426.2:c.2588A>T	NP_001155898.1:p.Glu863Val
NM_001162427.2:c.2438A>T	NP_001155899.1:p.Glu813Val
NM_001362177.2:c.2228A>T	NP_001349106.1:p.Glu743Val