Canonical Allele Identifier: CA375367380

Gene: TSC1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.132896615T>G , CM000671.2:g.132896615T>G	GRCh38
NC_000009.11:g.135772002T>G , CM000671.1:g.135772002T>G	GRCh37
NC_000009.10:g.134761823T>G	NCBI36
NG_012386.1:g.53019A>C , LRG_486:g.53019A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000368.5:c.3115A>C MANE Select	NP_000359.1:p.Ser1039Arg
ENST00000298552.9:c.3115A>C MANE Select	ENSP00000298552.3:p.Ser1039Arg
NM_000368.4:c.3115A>C , LRG_486t1:c.3115A>C	NP_000359.1:p.Ser1039Arg
NM_001162426.1:c.3112A>C	NP_001155898.1:p.Ser1038Arg
NM_001162426.2:c.3112A>C	NP_001155898.1:p.Ser1038Arg
NM_001162427.1:c.2962A>C	NP_001155899.1:p.Ser988Arg
NM_001162427.2:c.2962A>C	NP_001155899.1:p.Ser988Arg
NM_001362177.1:c.2752A>C	NP_001349106.1:p.Ser918Arg
NM_001362177.2:c.2752A>C	NP_001349106.1:p.Ser918Arg
ENST00000298552.7:c.3115A>C	ENSP00000298552.3:p.Ser1039Arg
ENST00000440111.6:c.3115A>C	ENSP00000394524.2:p.Ser1039Arg
ENST00000475903.7:c.3112A>C	ENSP00000496126.2:p.Ser1038Arg
ENST00000490179.4:c.3115A>C	ENSP00000495533.2:p.Ser1039Arg
ENST00000545250.5:c.2962A>C	ENSP00000444017.1:p.Ser988Arg
ENST00000642261.1:c.1252A>C
ENST00000642261.2:c.*971A>C	ENSP00000494743.2:n.*971A>C
ENST00000642617.1:c.3112A>C	ENSP00000493773.1:p.Ser1038Arg
ENST00000642627.1:c.3097A>C	ENSP00000496772.1:p.Ser1033Arg
ENST00000642811.1:c.*2885A>C	ENSP00000495554.1:n.*2885A>C
ENST00000643072.1:c.2962A>C	ENSP00000496691.1:p.Ser988Arg
ENST00000643275.1:c.1589A>C	ENSP00000495598.1:n.1589A>C
ENST00000643275.2:c.*1055A>C	ENSP00000495598.2:n.*1055A>C
ENST00000643362.2:c.2728A>C	ENSP00000496398.2:p.Ser910Arg
ENST00000643583.1:c.3100A>C	ENSP00000494685.1:p.Ser1034Arg
ENST00000643625.1:c.992A>C	ENSP00000495546.1:n.992A>C
ENST00000643625.2:c.*857A>C	ENSP00000495546.2:n.*857A>C
ENST00000643691.2:c.2752A>C	ENSP00000494916.2:p.Ser918Arg
ENST00000643875.1:c.3115A>C	ENSP00000495158.1:p.Ser1039Arg
ENST00000644097.1:c.3112A>C	ENSP00000494682.1:p.Ser1038Arg
ENST00000644184.1:c.1810A>C	ENSP00000495428.1:p.Ser604Arg
ENST00000644184.2:c.3073A>C	ENSP00000495428.2:p.Ser1025Arg
ENST00000644255.1:c.*2882A>C	ENSP00000493608.1:n.*2882A>C
ENST00000644319.1:n.3490A>C
ENST00000644786.1:n.774A>C
ENST00000644882.1:n.2023A>C
ENST00000645129.2:c.2959A>C	ENSP00000493639.2:p.Ser987Arg
ENST00000645901.1:n.3966A>C
ENST00000646391.1:c.*2885A>C	ENSP00000494104.1:n.*2885A>C
ENST00000646440.2:c.3115A>C	ENSP00000495830.2:p.Ser1039Arg
ENST00000646625.1:c.3115A>C	ENSP00000496263.1:p.Ser1039Arg
ENST00000647262.1:n.2080A>C
ENST00000647279.1:c.*2354A>C	ENSP00000494502.1:n.*2354A>C
ENST00000647534.1:n.2179A>C
XM_005272211.1:c.3115A>C	XP_005272268.1:p.Ser1039Arg
XM_006717271.1:c.3115A>C	XP_006717334.1:p.Ser1039Arg
XM_011518979.1:c.3115A>C	XP_011517281.1:p.Ser1039Arg
XM_011518979.2:c.3115A>C	XP_011517281.1:p.Ser1039Arg
XM_017015096.1:c.3115A>C	XP_016870585.1:p.Ser1039Arg
XM_017015097.1:c.3115A>C	XP_016870586.1:p.Ser1039Arg
XM_017015098.1:c.3112A>C	XP_016870587.1:p.Ser1038Arg
XM_017015100.1:c.2752A>C	XP_016870589.1:p.Ser918Arg
XM_017015101.1:c.2749A>C	XP_016870590.1:p.Ser917Arg