Canonical Allele Identifier: CA5301769

Gene: TSC1

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.132910582dup , CM000671.2:g.132910582dup	GRCh38
NC_000009.11:g.135785969dup , CM000671.1:g.135785969dup	GRCh37
NC_000009.10:g.134775790dup	NCBI36
NG_012386.1:g.39057dup , LRG_486:g.39057dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475903.7:c.1254dup	ENSP00000496126.2:p.Arg419GlnfsTer22
ENST00000490179.4:c.1257dup	ENSP00000495533.2:p.Arg420GlnfsTer22
ENST00000642261.2:c.1257dup	ENSP00000494743.2:p.Arg420GlnfsTer22
ENST00000643275.2:c.1257dup	ENSP00000495598.2:p.Arg420GlnfsTer22
ENST00000643362.2:c.876+876dup	ENSP00000496398.2:n.876+876dup
ENST00000643625.2:c.1257dup	ENSP00000495546.2:p.Arg420GlnfsTer22
ENST00000643691.2:c.894dup	ENSP00000494916.2:p.Arg299GlnfsTer22
ENST00000644184.2:c.1257dup	ENSP00000495428.2:p.Arg420GlnfsTer22
ENST00000645129.2:c.1101dup	ENSP00000493639.2:p.Arg368GlnfsTer22
ENST00000646440.2:c.1257dup	ENSP00000495830.2:p.Arg420GlnfsTer22
ENST00000647078.2:c.*151dup	ENSP00000496066.1:n.*151dup
ENST00000298552.9:c.1257dup MANE Select	ENSP00000298552.3:p.Arg420GlnfsTer22
ENST00000493467.6:n.528dup
ENST00000642344.1:c.*998dup	ENSP00000494847.1:n.*998dup
ENST00000642617.1:c.1254dup	ENSP00000493773.1:p.Arg419GlnfsTer22
ENST00000642627.1:c.1254dup	ENSP00000496772.1:p.Arg419GlnfsTer22
ENST00000642646.1:c.1257dup	ENSP00000496292.1:p.Arg420GlnfsTer17
ENST00000642745.1:c.1257dup	ENSP00000493963.1:p.Arg420GlnfsTer17
ENST00000642811.1:c.*1027dup	ENSP00000495554.1:n.*1027dup
ENST00000643072.1:c.1104dup	ENSP00000496691.1:p.Arg369GlnfsTer22
ENST00000643362.1:c.876+876dup	ENSP00000496398.1:n.876+876dup
ENST00000643583.1:c.1257dup	ENSP00000494685.1:p.Arg420GlnfsTer22
ENST00000643875.1:c.1257dup	ENSP00000495158.1:p.Arg420GlnfsTer22
ENST00000644097.1:c.1254dup	ENSP00000494682.1:p.Arg419GlnfsTer22
ENST00000644255.1:c.*1024dup	ENSP00000493608.1:n.*1024dup
ENST00000644319.1:n.1632dup
ENST00000644997.1:c.*911dup	ENSP00000495654.1:n.*911dup
ENST00000645150.1:c.1257dup	ENSP00000494365.1:p.Arg420GlnfsTer17
ENST00000645901.1:n.2108dup
ENST00000646391.1:c.*1027dup	ENSP00000494104.1:n.*1027dup
ENST00000646625.1:c.1257dup	ENSP00000496263.1:p.Arg420GlnfsTer22
ENST00000647078.1:c.*151dup	ENSP00000496066.1:n.*151dup
ENST00000647279.1:c.*496dup	ENSP00000494502.1:n.*496dup
ENST00000647462.1:c.1254dup	ENSP00000495821.1:p.Arg419GlnfsTer17
ENST00000647506.1:n.2133dup
ENST00000647534.1:n.321dup
ENST00000298552.7:c.1257dup	ENSP00000298552.3:p.Arg420GlnfsTer22
ENST00000440111.6:c.1257dup	ENSP00000394524.2:p.Arg420GlnfsTer22
ENST00000493467.5:n.1453dup
ENST00000545250.5:c.1104dup	ENSP00000444017.1:p.Arg369GlnfsTer22
NM_000368.4:c.1257dup , LRG_486t1:c.1257dup	NP_000359.1:p.Arg420GlnfsTer22
NM_001162426.1:c.1254dup	NP_001155898.1:p.Arg419GlnfsTer22
NM_001162427.1:c.1104dup	NP_001155899.1:p.Arg369GlnfsTer22
XM_005272211.1:c.1257dup	XP_005272268.1:p.Arg420GlnfsTer22
XM_006717271.1:c.1257dup	XP_006717334.1:p.Arg420GlnfsTer22
XM_006717272.2:c.1257dup	XP_006717335.1:p.Arg420GlnfsTer22
XM_011518979.1:c.1257dup	XP_011517281.1:p.Arg420GlnfsTer22
NM_001362177.1:c.894dup	NP_001349106.1:p.Arg299GlnfsTer22
XM_011518979.2:c.1257dup	XP_011517281.1:p.Arg420GlnfsTer22
XM_017015096.1:c.1257dup	XP_016870585.1:p.Arg420GlnfsTer22
XM_017015097.1:c.1257dup	XP_016870586.1:p.Arg420GlnfsTer22
XM_017015098.1:c.1254dup	XP_016870587.1:p.Arg419GlnfsTer22
XM_017015100.1:c.894dup	XP_016870589.1:p.Arg299GlnfsTer22
XM_017015101.1:c.891dup	XP_016870590.1:p.Arg298GlnfsTer22
NM_000368.5:c.1257dup MANE Select	NP_000359.1:p.Arg420GlnfsTer22
NM_001162426.2:c.1254dup	NP_001155898.1:p.Arg419GlnfsTer22
NM_001162427.2:c.1104dup	NP_001155899.1:p.Arg369GlnfsTer22
NM_001362177.2:c.894dup	NP_001349106.1:p.Arg299GlnfsTer22