Canonical Allele Identifier: CA264316

Gene: TSC1

Linked Data

• ClinVar Variation Id: 64800
• ClinVar RCV Id: RCV000054989
• dbSNP Id: rs397514850
• MyVariant Identifiers: chr9:g.135776206dupC (hg19) ; chr9:g.135776205_135776206insC (hg19) ; chr9:g.132900819dupC (hg38) ; chr9:g.132900818_132900819insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.132900820dup , CM000671.2:g.132900820dup	GRCh38
NC_000009.11:g.135776207dup , CM000671.1:g.135776207dup	GRCh37
NC_000009.10:g.134766028dup	NCBI36
NG_012386.1:g.48815dup , LRG_486:g.48815dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000475903.7:c.2518dup	ENSP00000496126.2:p.Val840GlyfsTer?
ENST00000490179.4:c.2521dup	ENSP00000495533.2:p.Val841GlyfsTer?
ENST00000642261.2:c.*300dup	ENSP00000494743.2:n.*300dup
ENST00000643275.2:c.*461dup	ENSP00000495598.2:n.*461dup
ENST00000643362.2:c.2134dup	ENSP00000496398.2:p.Val712GlyfsTer?
ENST00000643625.2:c.*263dup	ENSP00000495546.2:n.*263dup
ENST00000643691.2:c.2158dup	ENSP00000494916.2:p.Val720GlyfsTer?
ENST00000644184.2:c.2479dup	ENSP00000495428.2:p.Val827GlyfsTer?
ENST00000645129.2:c.2365dup	ENSP00000493639.2:p.Val789GlyfsTer?
ENST00000646440.2:c.2521dup	ENSP00000495830.2:p.Val841GlyfsTer?
ENST00000298552.9:c.2521dup MANE Select	ENSP00000298552.3:p.Val841GlyfsTer?
ENST00000642261.1:c.581dup
ENST00000642617.1:c.2518dup	ENSP00000493773.1:p.Val840GlyfsTer?
ENST00000642627.1:c.2503dup	ENSP00000496772.1:p.Val835GlyfsTer?
ENST00000642811.1:c.*2291dup	ENSP00000495554.1:n.*2291dup
ENST00000643072.1:c.2368dup	ENSP00000496691.1:p.Val790GlyfsTer?
ENST00000643275.1:c.995dup	ENSP00000495598.1:n.995dup
ENST00000643583.1:c.2506dup	ENSP00000494685.1:p.Val836GlyfsTer?
ENST00000643625.1:c.398dup	ENSP00000495546.1:n.398dup
ENST00000643875.1:c.2521dup	ENSP00000495158.1:p.Val841GlyfsTer?
ENST00000644097.1:c.2518dup	ENSP00000494682.1:p.Val840GlyfsTer?
ENST00000644184.1:c.1216dup	ENSP00000495428.1:p.Val406GlyfsTer?
ENST00000644255.1:c.*2288dup	ENSP00000493608.1:n.*2288dup
ENST00000644319.1:n.2896dup
ENST00000644786.1:n.180dup
ENST00000644882.1:n.1434dup
ENST00000645901.1:n.3372dup
ENST00000646391.1:c.*2291dup	ENSP00000494104.1:n.*2291dup
ENST00000646625.1:c.2521dup	ENSP00000496263.1:p.Val841GlyfsTer?
ENST00000647262.1:n.1486dup
ENST00000647279.1:c.*1760dup	ENSP00000494502.1:n.*1760dup
ENST00000647506.1:n.3397dup
ENST00000647534.1:n.1585dup
ENST00000298552.7:c.2521dup	ENSP00000298552.3:p.Val841GlyfsTer?
ENST00000440111.6:c.2521dup	ENSP00000394524.2:p.Val841GlyfsTer?
ENST00000545250.5:c.2368dup	ENSP00000444017.1:p.Val790GlyfsTer?
NM_000368.4:c.2521dup , LRG_486t1:c.2521dup	NP_000359.1:p.Val841GlyfsTer?
NM_001162426.1:c.2518dup	NP_001155898.1:p.Val840GlyfsTer?
NM_001162427.1:c.2368dup	NP_001155899.1:p.Val790GlyfsTer?
XM_005272211.1:c.2521dup	XP_005272268.1:p.Val841GlyfsTer?
XM_006717271.1:c.2521dup	XP_006717334.1:p.Val841GlyfsTer?
XM_011518979.1:c.2521dup	XP_011517281.1:p.Val841GlyfsTer?
NM_001362177.1:c.2158dup	NP_001349106.1:p.Val720GlyfsTer?
XM_011518979.2:c.2521dup	XP_011517281.1:p.Val841GlyfsTer?
XM_017015096.1:c.2521dup	XP_016870585.1:p.Val841GlyfsTer?
XM_017015097.1:c.2521dup	XP_016870586.1:p.Val841GlyfsTer?
XM_017015098.1:c.2518dup	XP_016870587.1:p.Val840GlyfsTer?
XM_017015100.1:c.2158dup	XP_016870589.1:p.Val720GlyfsTer?
XM_017015101.1:c.2155dup	XP_016870590.1:p.Val719GlyfsTer?
NM_000368.5:c.2521dup MANE Select	NP_000359.1:p.Val841GlyfsTer?
NM_001162426.2:c.2518dup	NP_001155898.1:p.Val840GlyfsTer?
NM_001162427.2:c.2368dup	NP_001155899.1:p.Val790GlyfsTer?
NM_001362177.2:c.2158dup	NP_001349106.1:p.Val720GlyfsTer?