Canonical Allele Identifier: CA375367183
Gene: TSC1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.132896566C>T , CM000671.2:g.132896566C>T GRCh38
NC_000009.11:g.135771953C>T , CM000671.1:g.135771953C>T GRCh37
NC_000009.10:g.134761774C>T NCBI36
NG_012386.1:g.53068G>A , LRG_486:g.53068G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000475903.7:c.3161G>A ENSP00000496126.2:p.Arg1054Lys
ENST00000490179.4:c.3164G>A ENSP00000495533.2:p.Arg1055Lys
ENST00000642261.2:c.*1020G>A ENSP00000494743.2:n.*1020G>A
ENST00000643275.2:c.*1104G>A ENSP00000495598.2:n.*1104G>A
ENST00000643362.2:c.2777G>A ENSP00000496398.2:p.Arg926Lys
ENST00000643625.2:c.*906G>A ENSP00000495546.2:n.*906G>A
ENST00000643691.2:c.2801G>A ENSP00000494916.2:p.Arg934Lys
ENST00000644184.2:c.3122G>A ENSP00000495428.2:p.Arg1041Lys
ENST00000645129.2:c.3008G>A ENSP00000493639.2:p.Arg1003Lys
ENST00000646440.2:c.3164G>A ENSP00000495830.2:p.Arg1055Lys
ENST00000298552.9:c.3164G>A MANE Select ENSP00000298552.3:p.Arg1055Lys
ENST00000642261.1:c.1301G>A
ENST00000642617.1:c.3161G>A ENSP00000493773.1:p.Arg1054Lys
ENST00000642627.1:c.3146G>A ENSP00000496772.1:p.Arg1049Lys
ENST00000642811.1:c.*2934G>A ENSP00000495554.1:n.*2934G>A
ENST00000643072.1:c.3011G>A ENSP00000496691.1:p.Arg1004Lys
ENST00000643275.1:c.1638G>A ENSP00000495598.1:n.1638G>A
ENST00000643583.1:c.3149G>A ENSP00000494685.1:p.Arg1050Lys
ENST00000643625.1:c.1041G>A ENSP00000495546.1:n.1041G>A
ENST00000643875.1:c.3164G>A ENSP00000495158.1:p.Arg1055Lys
ENST00000644097.1:c.3161G>A ENSP00000494682.1:p.Arg1054Lys
ENST00000644184.1:c.1859G>A ENSP00000495428.1:p.Arg620Lys
ENST00000644255.1:c.*2931G>A ENSP00000493608.1:n.*2931G>A
ENST00000644319.1:n.3539G>A
ENST00000644786.1:n.823G>A
ENST00000644882.1:n.2072G>A
ENST00000645901.1:n.4015G>A
ENST00000646391.1:c.*2934G>A ENSP00000494104.1:n.*2934G>A
ENST00000646625.1:c.3164G>A ENSP00000496263.1:p.Arg1055Lys
ENST00000647262.1:n.2129G>A
ENST00000647279.1:c.*2403G>A ENSP00000494502.1:n.*2403G>A
ENST00000647534.1:n.2228G>A
ENST00000298552.7:c.3164G>A ENSP00000298552.3:p.Arg1055Lys
ENST00000440111.6:c.3164G>A ENSP00000394524.2:p.Arg1055Lys
ENST00000545250.5:c.3011G>A ENSP00000444017.1:p.Arg1004Lys
NM_000368.4:c.3164G>A , LRG_486t1:c.3164G>A NP_000359.1:p.Arg1055Lys
NM_001162426.1:c.3161G>A NP_001155898.1:p.Arg1054Lys
NM_001162427.1:c.3011G>A NP_001155899.1:p.Arg1004Lys
XM_005272211.1:c.3164G>A XP_005272268.1:p.Arg1055Lys
XM_006717271.1:c.3164G>A XP_006717334.1:p.Arg1055Lys
XM_011518979.1:c.3164G>A XP_011517281.1:p.Arg1055Lys
NM_001362177.1:c.2801G>A NP_001349106.1:p.Arg934Lys
XM_011518979.2:c.3164G>A XP_011517281.1:p.Arg1055Lys
XM_017015096.1:c.3164G>A XP_016870585.1:p.Arg1055Lys
XM_017015097.1:c.3164G>A XP_016870586.1:p.Arg1055Lys
XM_017015098.1:c.3161G>A XP_016870587.1:p.Arg1054Lys
XM_017015100.1:c.2801G>A XP_016870589.1:p.Arg934Lys
XM_017015101.1:c.2798G>A XP_016870590.1:p.Arg933Lys
NM_000368.5:c.3164G>A MANE Select NP_000359.1:p.Arg1055Lys
NM_001162426.2:c.3161G>A NP_001155898.1:p.Arg1054Lys
NM_001162427.2:c.3011G>A NP_001155899.1:p.Arg1004Lys
NM_001362177.2:c.2801G>A NP_001349106.1:p.Arg934Lys