Canonical Allele Identifier: CA262172

Gene: TSC1

Linked Data

• ClinVar Variation Id: 48795
• ClinVar RCV Id: RCV000042042
• dbSNP Id: rs118203540
• MyVariant Identifiers: chr9:g.135781450dupA (hg19) ; chr9:g.135781449_135781450insA (hg19) ; chr9:g.132906063dupA (hg38) ; chr9:g.132906062_132906063insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.132906063dup , CM000671.2:g.132906063dup	GRCh38
NC_000009.11:g.135781450dup , CM000671.1:g.135781450dup	GRCh37
NC_000009.10:g.134771271dup	NCBI36
NG_012386.1:g.43571dup , LRG_486:g.43571dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000475903.7:c.1512dup	ENSP00000496126.2:p.Pro505SerfsTer29
ENST00000490179.4:c.1515dup	ENSP00000495533.2:p.Pro506SerfsTer29
ENST00000642261.2:c.1515dup	ENSP00000494743.2:p.Pro506SerfsTer29
ENST00000643275.2:c.1515dup	ENSP00000495598.2:p.Pro506SerfsTer29
ENST00000643362.2:c.1128dup	ENSP00000496398.2:p.Pro377SerfsTer29
ENST00000643625.2:c.1515dup	ENSP00000495546.2:p.Pro506SerfsTer29
ENST00000643691.2:c.1152dup	ENSP00000494916.2:p.Pro385SerfsTer29
ENST00000644184.2:c.1515dup	ENSP00000495428.2:p.Pro506SerfsTer29
ENST00000645129.2:c.1359dup	ENSP00000493639.2:p.Pro454SerfsTer29
ENST00000646440.2:c.1515dup	ENSP00000495830.2:p.Pro506SerfsTer29
ENST00000298552.9:c.1515dup MANE Select	ENSP00000298552.3:p.Pro506SerfsTer29
ENST00000642617.1:c.1512dup	ENSP00000493773.1:p.Pro505SerfsTer29
ENST00000642627.1:c.1512dup	ENSP00000496772.1:p.Pro505SerfsTer29
ENST00000642811.1:c.*1285dup	ENSP00000495554.1:n.*1285dup
ENST00000643072.1:c.1362dup	ENSP00000496691.1:p.Pro455SerfsTer29
ENST00000643275.1:c.33dup	ENSP00000495598.1:p.Pro12SerfsTer29
ENST00000643583.1:c.1515dup	ENSP00000494685.1:p.Pro506SerfsTer29
ENST00000643875.1:c.1515dup	ENSP00000495158.1:p.Pro506SerfsTer29
ENST00000644097.1:c.1512dup	ENSP00000494682.1:p.Pro505SerfsTer29
ENST00000644184.1:c.252dup	ENSP00000495428.1:p.Pro85SerfsTer29
ENST00000644255.1:c.*1282dup	ENSP00000493608.1:n.*1282dup
ENST00000644319.1:n.1890dup
ENST00000644882.1:n.470dup
ENST00000645901.1:n.2366dup
ENST00000646391.1:c.*1285dup	ENSP00000494104.1:n.*1285dup
ENST00000646625.1:c.1515dup	ENSP00000496263.1:p.Pro506SerfsTer29
ENST00000647262.1:n.480dup
ENST00000647279.1:c.*754dup	ENSP00000494502.1:n.*754dup
ENST00000647506.1:n.2391dup
ENST00000647534.1:n.579dup
ENST00000298552.7:c.1515dup	ENSP00000298552.3:p.Pro506SerfsTer29
ENST00000440111.6:c.1515dup	ENSP00000394524.2:p.Pro506SerfsTer29
ENST00000545250.5:c.1362dup	ENSP00000444017.1:p.Pro455SerfsTer29
NM_000368.4:c.1515dup , LRG_486t1:c.1515dup	NP_000359.1:p.Pro506SerfsTer29
NM_001162426.1:c.1512dup	NP_001155898.1:p.Pro505SerfsTer29
NM_001162427.1:c.1362dup	NP_001155899.1:p.Pro455SerfsTer29
XM_005272211.1:c.1515dup	XP_005272268.1:p.Pro506SerfsTer29
XM_006717271.1:c.1515dup	XP_006717334.1:p.Pro506SerfsTer29
XM_006717272.2:c.1515dup	XP_006717335.1:p.Pro506SerfsTer29
XM_011518979.1:c.1515dup	XP_011517281.1:p.Pro506SerfsTer29
NM_001362177.1:c.1152dup	NP_001349106.1:p.Pro385SerfsTer29
XM_011518979.2:c.1515dup	XP_011517281.1:p.Pro506SerfsTer29
XM_017015096.1:c.1515dup	XP_016870585.1:p.Pro506SerfsTer29
XM_017015097.1:c.1515dup	XP_016870586.1:p.Pro506SerfsTer29
XM_017015098.1:c.1512dup	XP_016870587.1:p.Pro505SerfsTer29
XM_017015100.1:c.1152dup	XP_016870589.1:p.Pro385SerfsTer29
XM_017015101.1:c.1149dup	XP_016870590.1:p.Pro384SerfsTer29
NM_000368.5:c.1515dup MANE Select	NP_000359.1:p.Pro506SerfsTer29
NM_001162426.2:c.1512dup	NP_001155898.1:p.Pro505SerfsTer29
NM_001162427.2:c.1362dup	NP_001155899.1:p.Pro455SerfsTer29
NM_001362177.2:c.1152dup	NP_001349106.1:p.Pro385SerfsTer29