Canonical Allele Identifier: CA2580080151

Gene: TSC1

Linked Data

• ClinVar Variation Id: 2026269
• ClinVar RCV Id: RCV002871274

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.132903721dup , CM000671.2:g.132903721dup	GRCh38
NC_000009.11:g.135779108dup , CM000671.1:g.135779108dup	GRCh37
NC_000009.10:g.134768929dup	NCBI36
NG_012386.1:g.45915dup , LRG_486:g.45915dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475903.7:c.2137dup	ENSP00000496126.2:p.Leu713ProfsTer20
ENST00000490179.4:c.2140dup	ENSP00000495533.2:p.Leu714ProfsTer20
ENST00000642261.2:c.2140dup	ENSP00000494743.2:p.Leu714ProfsTer20
ENST00000643275.2:c.*80dup	ENSP00000495598.2:n.*80dup
ENST00000643362.2:c.1753dup	ENSP00000496398.2:p.Leu585ProfsTer20
ENST00000643625.2:c.2041+692dup	ENSP00000495546.2:n.2041+692dup
ENST00000643691.2:c.1777dup	ENSP00000494916.2:p.Leu593ProfsTer20
ENST00000644184.2:c.2140dup	ENSP00000495428.2:p.Leu714ProfsTer20
ENST00000645129.2:c.1984dup	ENSP00000493639.2:p.Leu662ProfsTer20
ENST00000646440.2:c.2140dup	ENSP00000495830.2:p.Leu714ProfsTer20
ENST00000298552.9:c.2140dup MANE Select	ENSP00000298552.3:p.Leu714ProfsTer20
ENST00000642261.1:c.204dup
ENST00000642617.1:c.2137dup	ENSP00000493773.1:p.Leu713ProfsTer20
ENST00000642627.1:c.2122dup	ENSP00000496772.1:p.Leu708ProfsTer20
ENST00000642811.1:c.*1910dup	ENSP00000495554.1:n.*1910dup
ENST00000643072.1:c.1987dup	ENSP00000496691.1:p.Leu663ProfsTer20
ENST00000643275.1:c.614dup	ENSP00000495598.1:n.614dup
ENST00000643583.1:c.2125dup	ENSP00000494685.1:p.Leu709ProfsTer20
ENST00000643625.1:c.85+692dup	ENSP00000495546.1:n.85+692dup
ENST00000643875.1:c.2140dup	ENSP00000495158.1:p.Leu714ProfsTer20
ENST00000644097.1:c.2137dup	ENSP00000494682.1:p.Leu713ProfsTer20
ENST00000644184.1:c.877dup	ENSP00000495428.1:p.Leu293ProfsTer20
ENST00000644255.1:c.*1907dup	ENSP00000493608.1:n.*1907dup
ENST00000644319.1:n.2515dup
ENST00000644882.1:n.1095dup
ENST00000645901.1:n.2991dup
ENST00000646391.1:c.*1910dup	ENSP00000494104.1:n.*1910dup
ENST00000646625.1:c.2140dup	ENSP00000496263.1:p.Leu714ProfsTer20
ENST00000647262.1:n.1105dup
ENST00000647279.1:c.*1379dup	ENSP00000494502.1:n.*1379dup
ENST00000647506.1:n.3016dup
ENST00000647534.1:n.1204dup
ENST00000298552.7:c.2140dup	ENSP00000298552.3:p.Leu714ProfsTer20
ENST00000440111.6:c.2140dup	ENSP00000394524.2:p.Leu714ProfsTer20
ENST00000545250.5:c.1987dup	ENSP00000444017.1:p.Leu663ProfsTer20
NM_000368.4:c.2140dup , LRG_486t1:c.2140dup	NP_000359.1:p.Leu714ProfsTer20
NM_001162426.1:c.2137dup	NP_001155898.1:p.Leu713ProfsTer20
NM_001162427.1:c.1987dup	NP_001155899.1:p.Leu663ProfsTer20
XM_005272211.1:c.2140dup	XP_005272268.1:p.Leu714ProfsTer20
XM_006717271.1:c.2140dup	XP_006717334.1:p.Leu714ProfsTer20
XM_011518979.1:c.2140dup	XP_011517281.1:p.Leu714ProfsTer20
NM_001362177.1:c.1777dup	NP_001349106.1:p.Leu593ProfsTer20
XM_011518979.2:c.2140dup	XP_011517281.1:p.Leu714ProfsTer20
XM_017015096.1:c.2140dup	XP_016870585.1:p.Leu714ProfsTer20
XM_017015097.1:c.2140dup	XP_016870586.1:p.Leu714ProfsTer20
XM_017015098.1:c.2137dup	XP_016870587.1:p.Leu713ProfsTer20
XM_017015100.1:c.1777dup	XP_016870589.1:p.Leu593ProfsTer20
XM_017015101.1:c.1774dup	XP_016870590.1:p.Leu592ProfsTer20
NM_000368.5:c.2140dup MANE Select	NP_000359.1:p.Leu714ProfsTer20
NM_001162426.2:c.2137dup	NP_001155898.1:p.Leu713ProfsTer20
NM_001162427.2:c.1987dup	NP_001155899.1:p.Leu663ProfsTer20
NM_001362177.2:c.1777dup	NP_001349106.1:p.Leu593ProfsTer20