Canonical Allele Identifier: CA035574
Community Standard Title: NM_000368.5(TSC1):c.3000C>G (p.Cys1000Trp)
Gene: TSC1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.132896730G>C , CM000671.2:g.132896730G>C GRCh38
NC_000009.11:g.135772117G>C , CM000671.1:g.135772117G>C GRCh37
NC_000009.10:g.134761938G>C NCBI36
NG_012386.1:g.52904C>G , LRG_486:g.52904C>G

Transcript Alleles

HGVS Amino-acid Change
NM_000368.5:c.3000C>G MANE Select NP_000359.1:p.Cys1000Trp
ENST00000298552.9:c.3000C>G MANE Select ENSP00000298552.3:p.Cys1000Trp
NM_000368.4:c.3000C>G , LRG_486t1:c.3000C>G NP_000359.1:p.Cys1000Trp
NM_001162426.1:c.2997C>G NP_001155898.1:p.Cys999Trp
NM_001162426.2:c.2997C>G NP_001155898.1:p.Cys999Trp
NM_001162427.1:c.2847C>G NP_001155899.1:p.Cys949Trp
NM_001162427.2:c.2847C>G NP_001155899.1:p.Cys949Trp
NM_001362177.1:c.2637C>G NP_001349106.1:p.Cys879Trp
NM_001362177.2:c.2637C>G NP_001349106.1:p.Cys879Trp
ENST00000298552.7:c.3000C>G ENSP00000298552.3:p.Cys1000Trp
ENST00000440111.6:c.3000C>G ENSP00000394524.2:p.Cys1000Trp
ENST00000475903.7:c.2997C>G ENSP00000496126.2:p.Cys999Trp
ENST00000490179.4:c.3000C>G ENSP00000495533.2:p.Cys1000Trp
ENST00000545250.5:c.2847C>G ENSP00000444017.1:p.Cys949Trp
ENST00000642261.1:c.1137C>G
ENST00000642261.2:c.*856C>G ENSP00000494743.2:n.*856C>G
ENST00000642617.1:c.2997C>G ENSP00000493773.1:p.Cys999Trp
ENST00000642627.1:c.2982C>G ENSP00000496772.1:p.Cys994Trp
ENST00000642811.1:c.*2770C>G ENSP00000495554.1:n.*2770C>G
ENST00000643072.1:c.2847C>G ENSP00000496691.1:p.Cys949Trp
ENST00000643275.1:c.1474C>G ENSP00000495598.1:n.1474C>G
ENST00000643275.2:c.*940C>G ENSP00000495598.2:n.*940C>G
ENST00000643362.2:c.2613C>G ENSP00000496398.2:p.Cys871Trp
ENST00000643583.1:c.2985C>G ENSP00000494685.1:p.Cys995Trp
ENST00000643625.1:c.877C>G ENSP00000495546.1:n.877C>G
ENST00000643625.2:c.*742C>G ENSP00000495546.2:n.*742C>G
ENST00000643691.2:c.2637C>G ENSP00000494916.2:p.Cys879Trp
ENST00000643875.1:c.3000C>G ENSP00000495158.1:p.Cys1000Trp
ENST00000644097.1:c.2997C>G ENSP00000494682.1:p.Cys999Trp
ENST00000644184.1:c.1695C>G ENSP00000495428.1:p.Cys565Trp
ENST00000644184.2:c.2958C>G ENSP00000495428.2:p.Cys986Trp
ENST00000644255.1:c.*2767C>G ENSP00000493608.1:n.*2767C>G
ENST00000644319.1:n.3375C>G
ENST00000644786.1:n.659C>G
ENST00000644882.1:n.1908C>G
ENST00000645129.2:c.2844C>G ENSP00000493639.2:p.Cys948Trp
ENST00000645901.1:n.3851C>G
ENST00000646391.1:c.*2770C>G ENSP00000494104.1:n.*2770C>G
ENST00000646440.2:c.3000C>G ENSP00000495830.2:p.Cys1000Trp
ENST00000646625.1:c.3000C>G ENSP00000496263.1:p.Cys1000Trp
ENST00000647262.1:n.1965C>G
ENST00000647279.1:c.*2239C>G ENSP00000494502.1:n.*2239C>G
ENST00000647534.1:n.2064C>G
XM_005272211.1:c.3000C>G XP_005272268.1:p.Cys1000Trp
XM_006717271.1:c.3000C>G XP_006717334.1:p.Cys1000Trp
XM_011518979.1:c.3000C>G XP_011517281.1:p.Cys1000Trp
XM_011518979.2:c.3000C>G XP_011517281.1:p.Cys1000Trp
XM_017015096.1:c.3000C>G XP_016870585.1:p.Cys1000Trp
XM_017015097.1:c.3000C>G XP_016870586.1:p.Cys1000Trp
XM_017015098.1:c.2997C>G XP_016870587.1:p.Cys999Trp
XM_017015100.1:c.2637C>G XP_016870589.1:p.Cys879Trp
XM_017015101.1:c.2634C>G XP_016870590.1:p.Cys878Trp