Canonical Allele Identifier: CA033399
Community Standard Title: NM_000368.5(TSC1):c.2527C>G (p.Gln843Glu)
Gene: TSC1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.132900813G>C , CM000671.2:g.132900813G>C GRCh38
NC_000009.11:g.135776200G>C , CM000671.1:g.135776200G>C GRCh37
NC_000009.10:g.134766021G>C NCBI36
NG_012386.1:g.48821C>G , LRG_486:g.48821C>G

Transcript Alleles

HGVS Amino-acid Change
NM_000368.5:c.2527C>G MANE Select NP_000359.1:p.Gln843Glu
ENST00000298552.9:c.2527C>G MANE Select ENSP00000298552.3:p.Gln843Glu
NM_000368.4:c.2527C>G , LRG_486t1:c.2527C>G NP_000359.1:p.Gln843Glu
NM_001162426.1:c.2524C>G NP_001155898.1:p.Gln842Glu
NM_001162426.2:c.2524C>G NP_001155898.1:p.Gln842Glu
NM_001162427.1:c.2374C>G NP_001155899.1:p.Gln792Glu
NM_001162427.2:c.2374C>G NP_001155899.1:p.Gln792Glu
NM_001362177.1:c.2164C>G NP_001349106.1:p.Gln722Glu
NM_001362177.2:c.2164C>G NP_001349106.1:p.Gln722Glu
ENST00000298552.7:c.2527C>G ENSP00000298552.3:p.Gln843Glu
ENST00000440111.6:c.2527C>G ENSP00000394524.2:p.Gln843Glu
ENST00000475903.7:c.2524C>G ENSP00000496126.2:p.Gln842Glu
ENST00000490179.4:c.2527C>G ENSP00000495533.2:p.Gln843Glu
ENST00000545250.5:c.2374C>G ENSP00000444017.1:p.Gln792Glu
ENST00000642261.1:c.587C>G
ENST00000642261.2:c.*306C>G ENSP00000494743.2:n.*306C>G
ENST00000642617.1:c.2524C>G ENSP00000493773.1:p.Gln842Glu
ENST00000642627.1:c.2509C>G ENSP00000496772.1:p.Gln837Glu
ENST00000642811.1:c.*2297C>G ENSP00000495554.1:n.*2297C>G
ENST00000643072.1:c.2374C>G ENSP00000496691.1:p.Gln792Glu
ENST00000643275.1:c.1001C>G ENSP00000495598.1:n.1001C>G
ENST00000643275.2:c.*467C>G ENSP00000495598.2:n.*467C>G
ENST00000643362.2:c.2140C>G ENSP00000496398.2:p.Gln714Glu
ENST00000643583.1:c.2512C>G ENSP00000494685.1:p.Gln838Glu
ENST00000643625.1:c.404C>G ENSP00000495546.1:n.404C>G
ENST00000643625.2:c.*269C>G ENSP00000495546.2:n.*269C>G
ENST00000643691.2:c.2164C>G ENSP00000494916.2:p.Gln722Glu
ENST00000643875.1:c.2527C>G ENSP00000495158.1:p.Gln843Glu
ENST00000644097.1:c.2524C>G ENSP00000494682.1:p.Gln842Glu
ENST00000644184.1:c.1222C>G ENSP00000495428.1:p.Gln408Glu
ENST00000644184.2:c.2485C>G ENSP00000495428.2:p.Gln829Glu
ENST00000644255.1:c.*2294C>G ENSP00000493608.1:n.*2294C>G
ENST00000644319.1:n.2902C>G
ENST00000644786.1:n.186C>G
ENST00000644882.1:n.1440C>G
ENST00000645129.2:c.2371C>G ENSP00000493639.2:p.Gln791Glu
ENST00000645901.1:n.3378C>G
ENST00000646391.1:c.*2297C>G ENSP00000494104.1:n.*2297C>G
ENST00000646440.2:c.2527C>G ENSP00000495830.2:p.Gln843Glu
ENST00000646625.1:c.2527C>G ENSP00000496263.1:p.Gln843Glu
ENST00000647262.1:n.1492C>G
ENST00000647279.1:c.*1766C>G ENSP00000494502.1:n.*1766C>G
ENST00000647506.1:n.3403C>G
ENST00000647534.1:n.1591C>G
XM_005272211.1:c.2527C>G XP_005272268.1:p.Gln843Glu
XM_006717271.1:c.2527C>G XP_006717334.1:p.Gln843Glu
XM_011518979.1:c.2527C>G XP_011517281.1:p.Gln843Glu
XM_011518979.2:c.2527C>G XP_011517281.1:p.Gln843Glu
XM_017015096.1:c.2527C>G XP_016870585.1:p.Gln843Glu
XM_017015097.1:c.2527C>G XP_016870586.1:p.Gln843Glu
XM_017015098.1:c.2524C>G XP_016870587.1:p.Gln842Glu
XM_017015100.1:c.2164C>G XP_016870589.1:p.Gln722Glu
XM_017015101.1:c.2161C>G XP_016870590.1:p.Gln721Glu