Canonical Allele Identifier: CA375359665
Community Standard Title: NM_000368.5(TSC1):c.2299C>G (p.Gln767Glu)
Gene: TSC1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.132902697G>C , CM000671.2:g.132902697G>C GRCh38
NC_000009.11:g.135778084G>C , CM000671.1:g.135778084G>C GRCh37
NC_000009.10:g.134767905G>C NCBI36
NG_012386.1:g.46937C>G , LRG_486:g.46937C>G

Transcript Alleles

HGVS Amino-acid Change
NM_000368.5:c.2299C>G MANE Select NP_000359.1:p.Gln767Glu
ENST00000298552.9:c.2299C>G MANE Select ENSP00000298552.3:p.Gln767Glu
NM_000368.4:c.2299C>G , LRG_486t1:c.2299C>G NP_000359.1:p.Gln767Glu
NM_001162426.1:c.2296C>G NP_001155898.1:p.Gln766Glu
NM_001162426.2:c.2296C>G NP_001155898.1:p.Gln766Glu
NM_001162427.1:c.2146C>G NP_001155899.1:p.Gln716Glu
NM_001162427.2:c.2146C>G NP_001155899.1:p.Gln716Glu
NM_001362177.1:c.1936C>G NP_001349106.1:p.Gln646Glu
NM_001362177.2:c.1936C>G NP_001349106.1:p.Gln646Glu
ENST00000298552.7:c.2299C>G ENSP00000298552.3:p.Gln767Glu
ENST00000440111.6:c.2299C>G ENSP00000394524.2:p.Gln767Glu
ENST00000475903.7:c.2296C>G ENSP00000496126.2:p.Gln766Glu
ENST00000490179.4:c.2299C>G ENSP00000495533.2:p.Gln767Glu
ENST00000545250.5:c.2146C>G ENSP00000444017.1:p.Gln716Glu
ENST00000642261.1:c.359C>G
ENST00000642261.2:c.*78C>G ENSP00000494743.2:n.*78C>G
ENST00000642617.1:c.2296C>G ENSP00000493773.1:p.Gln766Glu
ENST00000642627.1:c.2281C>G ENSP00000496772.1:p.Gln761Glu
ENST00000642811.1:c.*2069C>G ENSP00000495554.1:n.*2069C>G
ENST00000643072.1:c.2146C>G ENSP00000496691.1:p.Gln716Glu
ENST00000643275.1:c.773C>G ENSP00000495598.1:n.773C>G
ENST00000643275.2:c.*239C>G ENSP00000495598.2:n.*239C>G
ENST00000643362.2:c.1912C>G ENSP00000496398.2:p.Gln638Glu
ENST00000643583.1:c.2284C>G ENSP00000494685.1:p.Gln762Glu
ENST00000643625.1:c.176C>G ENSP00000495546.1:n.176C>G
ENST00000643625.2:c.*41C>G ENSP00000495546.2:n.*41C>G
ENST00000643691.2:c.1936C>G ENSP00000494916.2:p.Gln646Glu
ENST00000643875.1:c.2299C>G ENSP00000495158.1:p.Gln767Glu
ENST00000644097.1:c.2296C>G ENSP00000494682.1:p.Gln766Glu
ENST00000644184.1:c.1036C>G ENSP00000495428.1:p.Gln346Glu
ENST00000644184.2:c.2299C>G ENSP00000495428.2:p.Gln767Glu
ENST00000644255.1:c.*2066C>G ENSP00000493608.1:n.*2066C>G
ENST00000644319.1:n.2674C>G
ENST00000644882.1:n.1254C>G
ENST00000645129.2:c.2143C>G ENSP00000493639.2:p.Gln715Glu
ENST00000645901.1:n.3150C>G
ENST00000646391.1:c.*2069C>G ENSP00000494104.1:n.*2069C>G
ENST00000646440.2:c.2299C>G ENSP00000495830.2:p.Gln767Glu
ENST00000646625.1:c.2299C>G ENSP00000496263.1:p.Gln767Glu
ENST00000647262.1:n.1264C>G
ENST00000647279.1:c.*1538C>G ENSP00000494502.1:n.*1538C>G
ENST00000647506.1:n.3175C>G
ENST00000647534.1:n.1363C>G
XM_005272211.1:c.2299C>G XP_005272268.1:p.Gln767Glu
XM_006717271.1:c.2299C>G XP_006717334.1:p.Gln767Glu
XM_011518979.1:c.2299C>G XP_011517281.1:p.Gln767Glu
XM_011518979.2:c.2299C>G XP_011517281.1:p.Gln767Glu
XM_017015096.1:c.2299C>G XP_016870585.1:p.Gln767Glu
XM_017015097.1:c.2299C>G XP_016870586.1:p.Gln767Glu
XM_017015098.1:c.2296C>G XP_016870587.1:p.Gln766Glu
XM_017015100.1:c.1936C>G XP_016870589.1:p.Gln646Glu
XM_017015101.1:c.1933C>G XP_016870590.1:p.Gln645Glu