Canonical Allele Identifier: CA1882414908

Gene: TSC1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.132906080G= , CM000671.2:g.132906080G=	GRCh38
NC_000009.11:g.135781467G= , CM000671.1:g.135781467G=	GRCh37
NC_000009.10:g.134771288G=	NCBI36
NG_012386.1:g.43554C= , LRG_486:g.43554C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475903.7:c.1495C=	ENSP00000496126.2:p.Arg499=
ENST00000490179.4:c.1498C=	ENSP00000495533.2:p.Arg500=
ENST00000642261.2:c.1498C=	ENSP00000494743.2:p.Arg500=
ENST00000643275.2:c.1498C=	ENSP00000495598.2:p.Arg500=
ENST00000643362.2:c.1111C=	ENSP00000496398.2:p.Arg371=
ENST00000643625.2:c.1498C=	ENSP00000495546.2:p.Arg500=
ENST00000643691.2:c.1135C=	ENSP00000494916.2:p.Arg379=
ENST00000644184.2:c.1498C=	ENSP00000495428.2:p.Arg500=
ENST00000645129.2:c.1342C=	ENSP00000493639.2:p.Arg448=
ENST00000646440.2:c.1498C=	ENSP00000495830.2:p.Arg500=
ENST00000298552.9:c.1498C= MANE Select	ENSP00000298552.3:p.Arg500=
ENST00000642617.1:c.1495C=	ENSP00000493773.1:p.Arg499=
ENST00000642627.1:c.1495C=	ENSP00000496772.1:p.Arg499=
ENST00000642811.1:c.*1268C=	ENSP00000495554.1:n.*1268C=
ENST00000643072.1:c.1345C=	ENSP00000496691.1:p.Arg449=
ENST00000643275.1:c.16C=	ENSP00000495598.1:p.Arg6=
ENST00000643583.1:c.1498C=	ENSP00000494685.1:p.Arg500=
ENST00000643875.1:c.1498C=	ENSP00000495158.1:p.Arg500=
ENST00000644097.1:c.1495C=	ENSP00000494682.1:p.Arg499=
ENST00000644184.1:c.235C=	ENSP00000495428.1:p.Arg79=
ENST00000644255.1:c.*1265C=	ENSP00000493608.1:n.*1265C=
ENST00000644319.1:n.1873C=
ENST00000644882.1:n.453C=
ENST00000645901.1:n.2349C=
ENST00000646391.1:c.*1268C=	ENSP00000494104.1:n.*1268C=
ENST00000646625.1:c.1498C=	ENSP00000496263.1:p.Arg500=
ENST00000647262.1:n.463C=
ENST00000647279.1:c.*737C=	ENSP00000494502.1:n.*737C=
ENST00000647506.1:n.2374C=
ENST00000647534.1:n.562C=
ENST00000298552.7:c.1498C=	ENSP00000298552.3:p.Arg500=
ENST00000440111.6:c.1498C=	ENSP00000394524.2:p.Arg500=
ENST00000545250.5:c.1345C=	ENSP00000444017.1:p.Arg449=
NM_000368.4:c.1498C= , LRG_486t1:c.1498C=	NP_000359.1:p.Arg500=
NM_001162426.1:c.1495C=	NP_001155898.1:p.Arg499=
NM_001162427.1:c.1345C=	NP_001155899.1:p.Arg449=
XM_005272211.1:c.1498C=	XP_005272268.1:p.Arg500=
XM_006717271.1:c.1498C=	XP_006717334.1:p.Arg500=
XM_006717272.2:c.1498C=	XP_006717335.1:p.Arg500=
XM_011518979.1:c.1498C=	XP_011517281.1:p.Arg500=
NM_001362177.1:c.1135C=	NP_001349106.1:p.Arg379=
XM_011518979.2:c.1498C=	XP_011517281.1:p.Arg500=
XM_017015096.1:c.1498C=	XP_016870585.1:p.Arg500=
XM_017015097.1:c.1498C=	XP_016870586.1:p.Arg500=
XM_017015098.1:c.1495C=	XP_016870587.1:p.Arg499=
XM_017015100.1:c.1135C=	XP_016870589.1:p.Arg379=
XM_017015101.1:c.1132C=	XP_016870590.1:p.Arg378=
NM_000368.5:c.1498C= MANE Select	NP_000359.1:p.Arg500=
NM_001162426.2:c.1495C=	NP_001155898.1:p.Arg499=
NM_001162427.2:c.1345C=	NP_001155899.1:p.Arg449=
NM_001362177.2:c.1135C=	NP_001349106.1:p.Arg379=