Canonical Allele Identifier: CA375369224
Gene: TSC1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.132897481T>G , CM000671.2:g.132897481T>G GRCh38
NC_000009.11:g.135772868T>G , CM000671.1:g.135772868T>G GRCh37
NC_000009.10:g.134762689T>G NCBI36
NG_012386.1:g.52153A>C , LRG_486:g.52153A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000475903.7:c.2752A>C ENSP00000496126.2:p.Lys918Gln
ENST00000490179.4:c.2755A>C ENSP00000495533.2:p.Lys919Gln
ENST00000642261.2:c.*534A>C ENSP00000494743.2:n.*534A>C
ENST00000643275.2:c.*695A>C ENSP00000495598.2:n.*695A>C
ENST00000643362.2:c.2368A>C ENSP00000496398.2:p.Lys790Gln
ENST00000643625.2:c.*497A>C ENSP00000495546.2:n.*497A>C
ENST00000643691.2:c.2392A>C ENSP00000494916.2:p.Lys798Gln
ENST00000644184.2:c.2713A>C ENSP00000495428.2:p.Lys905Gln
ENST00000645129.2:c.2599A>C ENSP00000493639.2:p.Lys867Gln
ENST00000646440.2:c.2755A>C ENSP00000495830.2:p.Lys919Gln
ENST00000298552.9:c.2755A>C MANE Select ENSP00000298552.3:p.Lys919Gln
ENST00000642261.1:c.815A>C
ENST00000642617.1:c.2752A>C ENSP00000493773.1:p.Lys918Gln
ENST00000642627.1:c.2737A>C ENSP00000496772.1:p.Lys913Gln
ENST00000642811.1:c.*2525A>C ENSP00000495554.1:n.*2525A>C
ENST00000643072.1:c.2602A>C ENSP00000496691.1:p.Lys868Gln
ENST00000643275.1:c.1229A>C ENSP00000495598.1:n.1229A>C
ENST00000643583.1:c.2740A>C ENSP00000494685.1:p.Lys914Gln
ENST00000643625.1:c.632A>C ENSP00000495546.1:n.632A>C
ENST00000643875.1:c.2755A>C ENSP00000495158.1:p.Lys919Gln
ENST00000644097.1:c.2752A>C ENSP00000494682.1:p.Lys918Gln
ENST00000644184.1:c.1450A>C ENSP00000495428.1:p.Lys484Gln
ENST00000644255.1:c.*2522A>C ENSP00000493608.1:n.*2522A>C
ENST00000644319.1:n.3130A>C
ENST00000644786.1:n.414A>C
ENST00000644882.1:n.1668A>C
ENST00000645901.1:n.3606A>C
ENST00000646391.1:c.*2525A>C ENSP00000494104.1:n.*2525A>C
ENST00000646625.1:c.2755A>C ENSP00000496263.1:p.Lys919Gln
ENST00000647262.1:n.1720A>C
ENST00000647279.1:c.*1994A>C ENSP00000494502.1:n.*1994A>C
ENST00000647534.1:n.1819A>C
ENST00000298552.7:c.2755A>C ENSP00000298552.3:p.Lys919Gln
ENST00000440111.6:c.2755A>C ENSP00000394524.2:p.Lys919Gln
ENST00000545250.5:c.2602A>C ENSP00000444017.1:p.Lys868Gln
NM_000368.4:c.2755A>C , LRG_486t1:c.2755A>C NP_000359.1:p.Lys919Gln
NM_001162426.1:c.2752A>C NP_001155898.1:p.Lys918Gln
NM_001162427.1:c.2602A>C NP_001155899.1:p.Lys868Gln
XM_005272211.1:c.2755A>C XP_005272268.1:p.Lys919Gln
XM_006717271.1:c.2755A>C XP_006717334.1:p.Lys919Gln
XM_011518979.1:c.2755A>C XP_011517281.1:p.Lys919Gln
NM_001362177.1:c.2392A>C NP_001349106.1:p.Lys798Gln
XM_011518979.2:c.2755A>C XP_011517281.1:p.Lys919Gln
XM_017015096.1:c.2755A>C XP_016870585.1:p.Lys919Gln
XM_017015097.1:c.2755A>C XP_016870586.1:p.Lys919Gln
XM_017015098.1:c.2752A>C XP_016870587.1:p.Lys918Gln
XM_017015100.1:c.2392A>C XP_016870589.1:p.Lys798Gln
XM_017015101.1:c.2389A>C XP_016870590.1:p.Lys797Gln
NM_000368.5:c.2755A>C MANE Select NP_000359.1:p.Lys919Gln
NM_001162426.2:c.2752A>C NP_001155898.1:p.Lys918Gln
NM_001162427.2:c.2602A>C NP_001155899.1:p.Lys868Gln
NM_001362177.2:c.2392A>C NP_001349106.1:p.Lys798Gln