Canonical Allele Identifier: CA375369961
Gene: TSC1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.132900747G>C , CM000671.2:g.132900747G>C GRCh38
NC_000009.11:g.135776134G>C , CM000671.1:g.135776134G>C GRCh37
NC_000009.10:g.134765955G>C NCBI36
NG_012386.1:g.48887C>G , LRG_486:g.48887C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000475903.7:c.2590C>G ENSP00000496126.2:p.Gln864Glu
ENST00000490179.4:c.2593C>G ENSP00000495533.2:p.Gln865Glu
ENST00000642261.2:c.*372C>G ENSP00000494743.2:n.*372C>G
ENST00000643275.2:c.*533C>G ENSP00000495598.2:n.*533C>G
ENST00000643362.2:c.2206C>G ENSP00000496398.2:p.Gln736Glu
ENST00000643625.2:c.*335C>G ENSP00000495546.2:n.*335C>G
ENST00000643691.2:c.2230C>G ENSP00000494916.2:p.Gln744Glu
ENST00000644184.2:c.2551C>G ENSP00000495428.2:p.Gln851Glu
ENST00000645129.2:c.2437C>G ENSP00000493639.2:p.Gln813Glu
ENST00000646440.2:c.2593C>G ENSP00000495830.2:p.Gln865Glu
ENST00000298552.9:c.2593C>G MANE Select ENSP00000298552.3:p.Gln865Glu
ENST00000642261.1:c.653C>G
ENST00000642617.1:c.2590C>G ENSP00000493773.1:p.Gln864Glu
ENST00000642627.1:c.2575C>G ENSP00000496772.1:p.Gln859Glu
ENST00000642811.1:c.*2363C>G ENSP00000495554.1:n.*2363C>G
ENST00000643072.1:c.2440C>G ENSP00000496691.1:p.Gln814Glu
ENST00000643275.1:c.1067C>G ENSP00000495598.1:n.1067C>G
ENST00000643583.1:c.2578C>G ENSP00000494685.1:p.Gln860Glu
ENST00000643625.1:c.470C>G ENSP00000495546.1:n.470C>G
ENST00000643875.1:c.2593C>G ENSP00000495158.1:p.Gln865Glu
ENST00000644097.1:c.2590C>G ENSP00000494682.1:p.Gln864Glu
ENST00000644184.1:c.1288C>G ENSP00000495428.1:p.Gln430Glu
ENST00000644255.1:c.*2360C>G ENSP00000493608.1:n.*2360C>G
ENST00000644319.1:n.2968C>G
ENST00000644786.1:n.252C>G
ENST00000644882.1:n.1506C>G
ENST00000645901.1:n.3444C>G
ENST00000646391.1:c.*2363C>G ENSP00000494104.1:n.*2363C>G
ENST00000646625.1:c.2593C>G ENSP00000496263.1:p.Gln865Glu
ENST00000647262.1:n.1558C>G
ENST00000647279.1:c.*1832C>G ENSP00000494502.1:n.*1832C>G
ENST00000647506.1:n.3469C>G
ENST00000647534.1:n.1657C>G
ENST00000298552.7:c.2593C>G ENSP00000298552.3:p.Gln865Glu
ENST00000440111.6:c.2593C>G ENSP00000394524.2:p.Gln865Glu
ENST00000545250.5:c.2440C>G ENSP00000444017.1:p.Gln814Glu
NM_000368.4:c.2593C>G , LRG_486t1:c.2593C>G NP_000359.1:p.Gln865Glu
NM_001162426.1:c.2590C>G NP_001155898.1:p.Gln864Glu
NM_001162427.1:c.2440C>G NP_001155899.1:p.Gln814Glu
XM_005272211.1:c.2593C>G XP_005272268.1:p.Gln865Glu
XM_006717271.1:c.2593C>G XP_006717334.1:p.Gln865Glu
XM_011518979.1:c.2593C>G XP_011517281.1:p.Gln865Glu
NM_001362177.1:c.2230C>G NP_001349106.1:p.Gln744Glu
XM_011518979.2:c.2593C>G XP_011517281.1:p.Gln865Glu
XM_017015096.1:c.2593C>G XP_016870585.1:p.Gln865Glu
XM_017015097.1:c.2593C>G XP_016870586.1:p.Gln865Glu
XM_017015098.1:c.2590C>G XP_016870587.1:p.Gln864Glu
XM_017015100.1:c.2230C>G XP_016870589.1:p.Gln744Glu
XM_017015101.1:c.2227C>G XP_016870590.1:p.Gln743Glu
NM_000368.5:c.2593C>G MANE Select NP_000359.1:p.Gln865Glu
NM_001162426.2:c.2590C>G NP_001155898.1:p.Gln864Glu
NM_001162427.2:c.2440C>G NP_001155899.1:p.Gln814Glu
NM_001362177.2:c.2230C>G NP_001349106.1:p.Gln744Glu