Canonical Allele Identifier: CA467593367

Gene: TSC1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.132911084A>G , CM000671.2:g.132911084A>G	GRCh38
NC_000009.11:g.135786471A>G , CM000671.1:g.135786471A>G	GRCh37
NC_000009.10:g.134776292A>G	NCBI36
NG_012386.1:g.38550T>C , LRG_486:g.38550T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000368.5:c.1059T>C MANE Select	NP_000359.1:p.Cys353=
ENST00000298552.9:c.1059T>C MANE Select	ENSP00000298552.3:p.Cys353=
NM_000368.4:c.1059T>C , LRG_486t1:c.1059T>C	NP_000359.1:p.Cys353=
NM_001162426.1:c.1059T>C	NP_001155898.1:p.Cys353=
NM_001162426.2:c.1059T>C	NP_001155898.1:p.Cys353=
NM_001162427.1:c.906T>C	NP_001155899.1:p.Cys302=
NM_001162427.2:c.906T>C	NP_001155899.1:p.Cys302=
NM_001362177.1:c.696T>C	NP_001349106.1:p.Cys232=
NM_001362177.2:c.696T>C	NP_001349106.1:p.Cys232=
ENST00000298552.7:c.1059T>C	ENSP00000298552.3:p.Cys353=
ENST00000403810.6:c.*297T>C	ENSP00000386093.1:n.*297T>C
ENST00000440111.6:c.1059T>C	ENSP00000394524.2:p.Cys353=
ENST00000475903.7:c.1059T>C	ENSP00000496126.2:p.Cys353=
ENST00000490179.4:c.1059T>C	ENSP00000495533.2:p.Cys353=
ENST00000493467.5:n.1255T>C
ENST00000493467.6:n.333T>C
ENST00000545250.5:c.906T>C	ENSP00000444017.1:p.Cys302=
ENST00000642261.2:c.1059T>C	ENSP00000494743.2:p.Cys353=
ENST00000642344.1:c.*800T>C	ENSP00000494847.1:n.*800T>C
ENST00000642617.1:c.1059T>C	ENSP00000493773.1:p.Cys353=
ENST00000642627.1:c.1059T>C	ENSP00000496772.1:p.Cys353=
ENST00000642646.1:c.1059T>C	ENSP00000496292.1:p.Cys353=
ENST00000642745.1:c.1059T>C	ENSP00000493963.1:p.Cys353=
ENST00000642811.1:c.*829T>C	ENSP00000495554.1:n.*829T>C
ENST00000643072.1:c.906T>C	ENSP00000496691.1:p.Cys302=
ENST00000643275.2:c.1059T>C	ENSP00000495598.2:p.Cys353=
ENST00000643362.1:c.876+369T>C	ENSP00000496398.1:n.876+369T>C
ENST00000643362.2:c.876+369T>C	ENSP00000496398.2:n.876+369T>C
ENST00000643583.1:c.1059T>C	ENSP00000494685.1:p.Cys353=
ENST00000643625.2:c.1059T>C	ENSP00000495546.2:p.Cys353=
ENST00000643691.2:c.696T>C	ENSP00000494916.2:p.Cys232=
ENST00000643875.1:c.1059T>C	ENSP00000495158.1:p.Cys353=
ENST00000644097.1:c.1059T>C	ENSP00000494682.1:p.Cys353=
ENST00000644184.2:c.1059T>C	ENSP00000495428.2:p.Cys353=
ENST00000644255.1:c.*829T>C	ENSP00000493608.1:n.*829T>C
ENST00000644319.1:n.1125T>C
ENST00000644997.1:c.*716T>C	ENSP00000495654.1:n.*716T>C
ENST00000645129.1:c.906T>C	ENSP00000493639.1:p.Cys302=
ENST00000645129.2:c.906T>C	ENSP00000493639.2:p.Cys302=
ENST00000645150.1:c.1059T>C	ENSP00000494365.1:p.Cys353=
ENST00000645901.1:n.1601T>C
ENST00000646391.1:c.*829T>C	ENSP00000494104.1:n.*829T>C
ENST00000646440.2:c.1059T>C	ENSP00000495830.2:p.Cys353=
ENST00000646625.1:c.1059T>C	ENSP00000496263.1:p.Cys353=
ENST00000647078.1:c.1102T>C	ENSP00000496066.1:p.Trp368Arg
ENST00000647078.2:c.1102T>C	ENSP00000496066.1:p.Trp368Arg
ENST00000647279.1:c.*298T>C	ENSP00000494502.1:n.*298T>C
ENST00000647462.1:c.1059T>C	ENSP00000495821.1:p.Cys353=
ENST00000647506.1:n.1626T>C
ENST00000647534.1:n.123T>C
XM_005272211.1:c.1059T>C	XP_005272268.1:p.Cys353=
XM_006717271.1:c.1059T>C	XP_006717334.1:p.Cys353=
XM_006717272.2:c.1059T>C	XP_006717335.1:p.Cys353=
XM_011518979.1:c.1059T>C	XP_011517281.1:p.Cys353=
XM_011518979.2:c.1059T>C	XP_011517281.1:p.Cys353=
XM_017015096.1:c.1059T>C	XP_016870585.1:p.Cys353=
XM_017015097.1:c.1059T>C	XP_016870586.1:p.Cys353=
XM_017015098.1:c.1059T>C	XP_016870587.1:p.Cys353=
XM_017015100.1:c.696T>C	XP_016870589.1:p.Cys232=
XM_017015101.1:c.696T>C	XP_016870590.1:p.Cys232=