Canonical Allele Identifier: CA375361019

Gene: TSC1

Linked Data

• ClinVar Variation Id: 646276
• ClinVar RCV Id: RCV000800528 ; RCV004028029
• dbSNP Id: rs1588304163
• MyVariant Identifiers: chr9:g.135779130G>T (hg19) ; chr9:g.132903743G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.132903743G>T , CM000671.2:g.132903743G>T	GRCh38
NC_000009.11:g.135779130G>T , CM000671.1:g.135779130G>T	GRCh37
NC_000009.10:g.134768951G>T	NCBI36
NG_012386.1:g.45891C>A , LRG_486:g.45891C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475903.7:c.2113C>A	ENSP00000496126.2:p.Arg705Ser
ENST00000490179.4:c.2116C>A	ENSP00000495533.2:p.Arg706Ser
ENST00000642261.2:c.2116C>A	ENSP00000494743.2:p.Arg706Ser
ENST00000643275.2:c.*56C>A	ENSP00000495598.2:n.*56C>A
ENST00000643362.2:c.1729C>A	ENSP00000496398.2:p.Arg577Ser
ENST00000643625.2:c.2041+668C>A	ENSP00000495546.2:n.2041+668C>A
ENST00000643691.2:c.1753C>A	ENSP00000494916.2:p.Arg585Ser
ENST00000644184.2:c.2116C>A	ENSP00000495428.2:p.Arg706Ser
ENST00000645129.2:c.1960C>A	ENSP00000493639.2:p.Arg654Ser
ENST00000646440.2:c.2116C>A	ENSP00000495830.2:p.Arg706Ser
ENST00000298552.9:c.2116C>A MANE Select	ENSP00000298552.3:p.Arg706Ser
ENST00000642261.1:c.180C>A
ENST00000642617.1:c.2113C>A	ENSP00000493773.1:p.Arg705Ser
ENST00000642627.1:c.2098C>A	ENSP00000496772.1:p.Arg700Ser
ENST00000642811.1:c.*1886C>A	ENSP00000495554.1:n.*1886C>A
ENST00000643072.1:c.1963C>A	ENSP00000496691.1:p.Arg655Ser
ENST00000643275.1:c.590C>A	ENSP00000495598.1:n.590C>A
ENST00000643583.1:c.2101C>A	ENSP00000494685.1:p.Arg701Ser
ENST00000643625.1:c.85+668C>A	ENSP00000495546.1:n.85+668C>A
ENST00000643875.1:c.2116C>A	ENSP00000495158.1:p.Arg706Ser
ENST00000644097.1:c.2113C>A	ENSP00000494682.1:p.Arg705Ser
ENST00000644184.1:c.853C>A	ENSP00000495428.1:p.Arg285Ser
ENST00000644255.1:c.*1883C>A	ENSP00000493608.1:n.*1883C>A
ENST00000644319.1:n.2491C>A
ENST00000644882.1:n.1071C>A
ENST00000645901.1:n.2967C>A
ENST00000646391.1:c.*1886C>A	ENSP00000494104.1:n.*1886C>A
ENST00000646625.1:c.2116C>A	ENSP00000496263.1:p.Arg706Ser
ENST00000647262.1:n.1081C>A
ENST00000647279.1:c.*1355C>A	ENSP00000494502.1:n.*1355C>A
ENST00000647506.1:n.2992C>A
ENST00000647534.1:n.1180C>A
ENST00000298552.7:c.2116C>A	ENSP00000298552.3:p.Arg706Ser
ENST00000440111.6:c.2116C>A	ENSP00000394524.2:p.Arg706Ser
ENST00000545250.5:c.1963C>A	ENSP00000444017.1:p.Arg655Ser
NM_000368.4:c.2116C>A , LRG_486t1:c.2116C>A	NP_000359.1:p.Arg706Ser
NM_001162426.1:c.2113C>A	NP_001155898.1:p.Arg705Ser
NM_001162427.1:c.1963C>A	NP_001155899.1:p.Arg655Ser
XM_005272211.1:c.2116C>A	XP_005272268.1:p.Arg706Ser
XM_006717271.1:c.2116C>A	XP_006717334.1:p.Arg706Ser
XM_011518979.1:c.2116C>A	XP_011517281.1:p.Arg706Ser
NM_001362177.1:c.1753C>A	NP_001349106.1:p.Arg585Ser
XM_011518979.2:c.2116C>A	XP_011517281.1:p.Arg706Ser
XM_017015096.1:c.2116C>A	XP_016870585.1:p.Arg706Ser
XM_017015097.1:c.2116C>A	XP_016870586.1:p.Arg706Ser
XM_017015098.1:c.2113C>A	XP_016870587.1:p.Arg705Ser
XM_017015100.1:c.1753C>A	XP_016870589.1:p.Arg585Ser
XM_017015101.1:c.1750C>A	XP_016870590.1:p.Arg584Ser
NM_000368.5:c.2116C>A MANE Select	NP_000359.1:p.Arg706Ser
NM_001162426.2:c.2113C>A	NP_001155898.1:p.Arg705Ser
NM_001162427.2:c.1963C>A	NP_001155899.1:p.Arg655Ser
NM_001362177.2:c.1753C>A	NP_001349106.1:p.Arg585Ser