Canonical Allele Identifier: CA1882411128

Gene: TSC1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.132903752G= , CM000671.2:g.132903752G=	GRCh38
NC_000009.11:g.135779139G= , CM000671.1:g.135779139G=	GRCh37
NC_000009.10:g.134768960G=	NCBI36
NG_012386.1:g.45882C= , LRG_486:g.45882C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475903.7:c.2104C=	ENSP00000496126.2:p.Leu702=
ENST00000490179.4:c.2107C=	ENSP00000495533.2:p.Leu703=
ENST00000642261.2:c.2107C=	ENSP00000494743.2:p.Leu703=
ENST00000643275.2:c.*47C=	ENSP00000495598.2:n.*47C=
ENST00000643362.2:c.1720C=	ENSP00000496398.2:p.Leu574=
ENST00000643625.2:c.2041+659C=	ENSP00000495546.2:n.2041+659C=
ENST00000643691.2:c.1744C=	ENSP00000494916.2:p.Leu582=
ENST00000644184.2:c.2107C=	ENSP00000495428.2:p.Leu703=
ENST00000645129.2:c.1951C=	ENSP00000493639.2:p.Leu651=
ENST00000646440.2:c.2107C=	ENSP00000495830.2:p.Leu703=
ENST00000298552.9:c.2107C= MANE Select	ENSP00000298552.3:p.Leu703=
ENST00000642261.1:c.171C=
ENST00000642617.1:c.2104C=	ENSP00000493773.1:p.Leu702=
ENST00000642627.1:c.2089C=	ENSP00000496772.1:p.Leu697=
ENST00000642811.1:c.*1877C=	ENSP00000495554.1:n.*1877C=
ENST00000643072.1:c.1954C=	ENSP00000496691.1:p.Leu652=
ENST00000643275.1:c.581C=	ENSP00000495598.1:n.581C=
ENST00000643583.1:c.2092C=	ENSP00000494685.1:p.Leu698=
ENST00000643625.1:c.85+659C=	ENSP00000495546.1:n.85+659C=
ENST00000643875.1:c.2107C=	ENSP00000495158.1:p.Leu703=
ENST00000644097.1:c.2104C=	ENSP00000494682.1:p.Leu702=
ENST00000644184.1:c.844C=	ENSP00000495428.1:p.Leu282=
ENST00000644255.1:c.*1874C=	ENSP00000493608.1:n.*1874C=
ENST00000644319.1:n.2482C=
ENST00000644882.1:n.1062C=
ENST00000645901.1:n.2958C=
ENST00000646391.1:c.*1877C=	ENSP00000494104.1:n.*1877C=
ENST00000646625.1:c.2107C=	ENSP00000496263.1:p.Leu703=
ENST00000647262.1:n.1072C=
ENST00000647279.1:c.*1346C=	ENSP00000494502.1:n.*1346C=
ENST00000647506.1:n.2983C=
ENST00000647534.1:n.1171C=
ENST00000298552.7:c.2107C=	ENSP00000298552.3:p.Leu703=
ENST00000440111.6:c.2107C=	ENSP00000394524.2:p.Leu703=
ENST00000545250.5:c.1954C=	ENSP00000444017.1:p.Leu652=
NM_000368.4:c.2107C= , LRG_486t1:c.2107C=	NP_000359.1:p.Leu703=
NM_001162426.1:c.2104C=	NP_001155898.1:p.Leu702=
NM_001162427.1:c.1954C=	NP_001155899.1:p.Leu652=
XM_005272211.1:c.2107C=	XP_005272268.1:p.Leu703=
XM_006717271.1:c.2107C=	XP_006717334.1:p.Leu703=
XM_011518979.1:c.2107C=	XP_011517281.1:p.Leu703=
NM_001362177.1:c.1744C=	NP_001349106.1:p.Leu582=
XM_011518979.2:c.2107C=	XP_011517281.1:p.Leu703=
XM_017015096.1:c.2107C=	XP_016870585.1:p.Leu703=
XM_017015097.1:c.2107C=	XP_016870586.1:p.Leu703=
XM_017015098.1:c.2104C=	XP_016870587.1:p.Leu702=
XM_017015100.1:c.1744C=	XP_016870589.1:p.Leu582=
XM_017015101.1:c.1741C=	XP_016870590.1:p.Leu581=
NM_000368.5:c.2107C= MANE Select	NP_000359.1:p.Leu703=
NM_001162426.2:c.2104C=	NP_001155898.1:p.Leu702=
NM_001162427.2:c.1954C=	NP_001155899.1:p.Leu652=
NM_001362177.2:c.1744C=	NP_001349106.1:p.Leu582=