Canonical Allele Identifier: CA375370358

Gene: TSC1

Linked Data

• ClinVar Variation Id: 2865387
• ClinVar RCV Id: RCV003614949
• MyVariant Identifiers: chr9:g.135776221A>C (hg19) ; chr9:g.132900834A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.132900834A>C , CM000671.2:g.132900834A>C	GRCh38
NC_000009.11:g.135776221A>C , CM000671.1:g.135776221A>C	GRCh37
NC_000009.10:g.134766042A>C	NCBI36
NG_012386.1:g.48800T>G , LRG_486:g.48800T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475903.7:c.2503T>G	ENSP00000496126.2:p.Ser835Ala
ENST00000490179.4:c.2506T>G	ENSP00000495533.2:p.Ser836Ala
ENST00000642261.2:c.*285T>G	ENSP00000494743.2:n.*285T>G
ENST00000643275.2:c.*446T>G	ENSP00000495598.2:n.*446T>G
ENST00000643362.2:c.2119T>G	ENSP00000496398.2:p.Ser707Ala
ENST00000643625.2:c.*248T>G	ENSP00000495546.2:n.*248T>G
ENST00000643691.2:c.2143T>G	ENSP00000494916.2:p.Ser715Ala
ENST00000644184.2:c.2464T>G	ENSP00000495428.2:p.Ser822Ala
ENST00000645129.2:c.2350T>G	ENSP00000493639.2:p.Ser784Ala
ENST00000646440.2:c.2506T>G	ENSP00000495830.2:p.Ser836Ala
ENST00000298552.9:c.2506T>G MANE Select	ENSP00000298552.3:p.Ser836Ala
ENST00000642261.1:c.566T>G
ENST00000642617.1:c.2503T>G	ENSP00000493773.1:p.Ser835Ala
ENST00000642627.1:c.2488T>G	ENSP00000496772.1:p.Ser830Ala
ENST00000642811.1:c.*2276T>G	ENSP00000495554.1:n.*2276T>G
ENST00000643072.1:c.2353T>G	ENSP00000496691.1:p.Ser785Ala
ENST00000643275.1:c.980T>G	ENSP00000495598.1:n.980T>G
ENST00000643583.1:c.2491T>G	ENSP00000494685.1:p.Ser831Ala
ENST00000643625.1:c.383T>G	ENSP00000495546.1:n.383T>G
ENST00000643875.1:c.2506T>G	ENSP00000495158.1:p.Ser836Ala
ENST00000644097.1:c.2503T>G	ENSP00000494682.1:p.Ser835Ala
ENST00000644184.1:c.1201T>G	ENSP00000495428.1:p.Ser401Ala
ENST00000644255.1:c.*2273T>G	ENSP00000493608.1:n.*2273T>G
ENST00000644319.1:n.2881T>G
ENST00000644786.1:n.165T>G
ENST00000644882.1:n.1419T>G
ENST00000645901.1:n.3357T>G
ENST00000646391.1:c.*2276T>G	ENSP00000494104.1:n.*2276T>G
ENST00000646625.1:c.2506T>G	ENSP00000496263.1:p.Ser836Ala
ENST00000647262.1:n.1471T>G
ENST00000647279.1:c.*1745T>G	ENSP00000494502.1:n.*1745T>G
ENST00000647506.1:n.3382T>G
ENST00000647534.1:n.1570T>G
ENST00000298552.7:c.2506T>G	ENSP00000298552.3:p.Ser836Ala
ENST00000440111.6:c.2506T>G	ENSP00000394524.2:p.Ser836Ala
ENST00000545250.5:c.2353T>G	ENSP00000444017.1:p.Ser785Ala
NM_000368.4:c.2506T>G , LRG_486t1:c.2506T>G	NP_000359.1:p.Ser836Ala
NM_001162426.1:c.2503T>G	NP_001155898.1:p.Ser835Ala
NM_001162427.1:c.2353T>G	NP_001155899.1:p.Ser785Ala
XM_005272211.1:c.2506T>G	XP_005272268.1:p.Ser836Ala
XM_006717271.1:c.2506T>G	XP_006717334.1:p.Ser836Ala
XM_011518979.1:c.2506T>G	XP_011517281.1:p.Ser836Ala
NM_001362177.1:c.2143T>G	NP_001349106.1:p.Ser715Ala
XM_011518979.2:c.2506T>G	XP_011517281.1:p.Ser836Ala
XM_017015096.1:c.2506T>G	XP_016870585.1:p.Ser836Ala
XM_017015097.1:c.2506T>G	XP_016870586.1:p.Ser836Ala
XM_017015098.1:c.2503T>G	XP_016870587.1:p.Ser835Ala
XM_017015100.1:c.2143T>G	XP_016870589.1:p.Ser715Ala
XM_017015101.1:c.2140T>G	XP_016870590.1:p.Ser714Ala
NM_000368.5:c.2506T>G MANE Select	NP_000359.1:p.Ser836Ala
NM_001162426.2:c.2503T>G	NP_001155898.1:p.Ser835Ala
NM_001162427.2:c.2353T>G	NP_001155899.1:p.Ser785Ala
NM_001362177.2:c.2143T>G	NP_001349106.1:p.Ser715Ala