Canonical Allele Identifier: CA1882409396

Gene: TSC1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.132902727C= , CM000671.2:g.132902727C=	GRCh38
NC_000009.11:g.135778114C= , CM000671.1:g.135778114C=	GRCh37
NC_000009.10:g.134767935C=	NCBI36
NG_012386.1:g.46907G= , LRG_486:g.46907G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475903.7:c.2266G=	ENSP00000496126.2:p.Glu756=
ENST00000490179.4:c.2269G=	ENSP00000495533.2:p.Glu757=
ENST00000642261.2:c.*48G=	ENSP00000494743.2:n.*48G=
ENST00000643275.2:c.*209G=	ENSP00000495598.2:n.*209G=
ENST00000643362.2:c.1882G=	ENSP00000496398.2:p.Glu628=
ENST00000643625.2:c.*11G=	ENSP00000495546.2:n.*11G=
ENST00000643691.2:c.1906G=	ENSP00000494916.2:p.Glu636=
ENST00000644184.2:c.2269G=	ENSP00000495428.2:p.Glu757=
ENST00000645129.2:c.2113G=	ENSP00000493639.2:p.Glu705=
ENST00000646440.2:c.2269G=	ENSP00000495830.2:p.Glu757=
ENST00000298552.9:c.2269G= MANE Select	ENSP00000298552.3:p.Glu757=
ENST00000642261.1:c.329G=
ENST00000642617.1:c.2266G=	ENSP00000493773.1:p.Glu756=
ENST00000642627.1:c.2251G=	ENSP00000496772.1:p.Glu751=
ENST00000642811.1:c.*2039G=	ENSP00000495554.1:n.*2039G=
ENST00000643072.1:c.2116G=	ENSP00000496691.1:p.Glu706=
ENST00000643275.1:c.743G=	ENSP00000495598.1:n.743G=
ENST00000643583.1:c.2254G=	ENSP00000494685.1:p.Glu752=
ENST00000643625.1:c.146G=	ENSP00000495546.1:n.146G=
ENST00000643875.1:c.2269G=	ENSP00000495158.1:p.Glu757=
ENST00000644097.1:c.2266G=	ENSP00000494682.1:p.Glu756=
ENST00000644184.1:c.1006G=	ENSP00000495428.1:p.Glu336=
ENST00000644255.1:c.*2036G=	ENSP00000493608.1:n.*2036G=
ENST00000644319.1:n.2644G=
ENST00000644882.1:n.1224G=
ENST00000645901.1:n.3120G=
ENST00000646391.1:c.*2039G=	ENSP00000494104.1:n.*2039G=
ENST00000646625.1:c.2269G=	ENSP00000496263.1:p.Glu757=
ENST00000647262.1:n.1234G=
ENST00000647279.1:c.*1508G=	ENSP00000494502.1:n.*1508G=
ENST00000647506.1:n.3145G=
ENST00000647534.1:n.1333G=
ENST00000298552.7:c.2269G=	ENSP00000298552.3:p.Glu757=
ENST00000440111.6:c.2269G=	ENSP00000394524.2:p.Glu757=
ENST00000545250.5:c.2116G=	ENSP00000444017.1:p.Glu706=
NM_000368.4:c.2269G= , LRG_486t1:c.2269G=	NP_000359.1:p.Glu757=
NM_001162426.1:c.2266G=	NP_001155898.1:p.Glu756=
NM_001162427.1:c.2116G=	NP_001155899.1:p.Glu706=
XM_005272211.1:c.2269G=	XP_005272268.1:p.Glu757=
XM_006717271.1:c.2269G=	XP_006717334.1:p.Glu757=
XM_011518979.1:c.2269G=	XP_011517281.1:p.Glu757=
NM_001362177.1:c.1906G=	NP_001349106.1:p.Glu636=
XM_011518979.2:c.2269G=	XP_011517281.1:p.Glu757=
XM_017015096.1:c.2269G=	XP_016870585.1:p.Glu757=
XM_017015097.1:c.2269G=	XP_016870586.1:p.Glu757=
XM_017015098.1:c.2266G=	XP_016870587.1:p.Glu756=
XM_017015100.1:c.1906G=	XP_016870589.1:p.Glu636=
XM_017015101.1:c.1903G=	XP_016870590.1:p.Glu635=
NM_000368.5:c.2269G= MANE Select	NP_000359.1:p.Glu757=
NM_001162426.2:c.2266G=	NP_001155898.1:p.Glu756=
NM_001162427.2:c.2116G=	NP_001155899.1:p.Glu706=
NM_001362177.2:c.1906G=	NP_001349106.1:p.Glu636=