Canonical Allele Identifier: CA006315
Community Standard Title: NM_000368.5(TSC1):c.2332C>T (p.Gln778Ter)
Gene: TSC1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.132902664G>A , CM000671.2:g.132902664G>A GRCh38
NC_000009.11:g.135778051G>A , CM000671.1:g.135778051G>A GRCh37
NC_000009.10:g.134767872G>A NCBI36
NG_012386.1:g.46970C>T , LRG_486:g.46970C>T

Transcript Alleles

HGVS Amino-acid Change
NM_000368.5:c.2332C>T MANE Select NP_000359.1:p.Gln778Ter
ENST00000298552.9:c.2332C>T MANE Select ENSP00000298552.3:p.Gln778Ter
NM_000368.4:c.2332C>T , LRG_486t1:c.2332C>T NP_000359.1:p.Gln778Ter
NM_001162426.1:c.2329C>T NP_001155898.1:p.Gln777Ter
NM_001162426.2:c.2329C>T NP_001155898.1:p.Gln777Ter
NM_001162427.1:c.2179C>T NP_001155899.1:p.Gln727Ter
NM_001162427.2:c.2179C>T NP_001155899.1:p.Gln727Ter
NM_001362177.1:c.1969C>T NP_001349106.1:p.Gln657Ter
NM_001362177.2:c.1969C>T NP_001349106.1:p.Gln657Ter
ENST00000298552.7:c.2332C>T ENSP00000298552.3:p.Gln778Ter
ENST00000440111.6:c.2332C>T ENSP00000394524.2:p.Gln778Ter
ENST00000475903.7:c.2329C>T ENSP00000496126.2:p.Gln777Ter
ENST00000490179.4:c.2332C>T ENSP00000495533.2:p.Gln778Ter
ENST00000545250.5:c.2179C>T ENSP00000444017.1:p.Gln727Ter
ENST00000642261.1:c.392C>T
ENST00000642261.2:c.*111C>T ENSP00000494743.2:n.*111C>T
ENST00000642617.1:c.2329C>T ENSP00000493773.1:p.Gln777Ter
ENST00000642627.1:c.2314C>T ENSP00000496772.1:p.Gln772Ter
ENST00000642811.1:c.*2102C>T ENSP00000495554.1:n.*2102C>T
ENST00000643072.1:c.2179C>T ENSP00000496691.1:p.Gln727Ter
ENST00000643275.1:c.806C>T ENSP00000495598.1:n.806C>T
ENST00000643275.2:c.*272C>T ENSP00000495598.2:n.*272C>T
ENST00000643362.2:c.1945C>T ENSP00000496398.2:p.Gln649Ter
ENST00000643583.1:c.2317C>T ENSP00000494685.1:p.Gln773Ter
ENST00000643625.1:c.209C>T ENSP00000495546.1:n.209C>T
ENST00000643625.2:c.*74C>T ENSP00000495546.2:n.*74C>T
ENST00000643691.2:c.1969C>T ENSP00000494916.2:p.Gln657Ter
ENST00000643875.1:c.2332C>T ENSP00000495158.1:p.Gln778Ter
ENST00000644097.1:c.2329C>T ENSP00000494682.1:p.Gln777Ter
ENST00000644184.1:c.1069C>T ENSP00000495428.1:p.Gln357Ter
ENST00000644184.2:c.2332C>T ENSP00000495428.2:p.Gln778Ter
ENST00000644255.1:c.*2099C>T ENSP00000493608.1:n.*2099C>T
ENST00000644319.1:n.2707C>T
ENST00000644882.1:n.1287C>T
ENST00000645129.2:c.2176C>T ENSP00000493639.2:p.Gln726Ter
ENST00000645901.1:n.3183C>T
ENST00000646391.1:c.*2102C>T ENSP00000494104.1:n.*2102C>T
ENST00000646440.2:c.2332C>T ENSP00000495830.2:p.Gln778Ter
ENST00000646625.1:c.2332C>T ENSP00000496263.1:p.Gln778Ter
ENST00000647262.1:n.1297C>T
ENST00000647279.1:c.*1571C>T ENSP00000494502.1:n.*1571C>T
ENST00000647506.1:n.3208C>T
ENST00000647534.1:n.1396C>T
XM_005272211.1:c.2332C>T XP_005272268.1:p.Gln778Ter
XM_006717271.1:c.2332C>T XP_006717334.1:p.Gln778Ter
XM_011518979.1:c.2332C>T XP_011517281.1:p.Gln778Ter
XM_011518979.2:c.2332C>T XP_011517281.1:p.Gln778Ter
XM_017015096.1:c.2332C>T XP_016870585.1:p.Gln778Ter
XM_017015097.1:c.2332C>T XP_016870586.1:p.Gln778Ter
XM_017015098.1:c.2329C>T XP_016870587.1:p.Gln777Ter
XM_017015100.1:c.1969C>T XP_016870589.1:p.Gln657Ter
XM_017015101.1:c.1966C>T XP_016870590.1:p.Gln656Ter