Canonical Allele Identifier: CA16612624

Gene: TSC1

Linked Data

• ClinVar Variation Id: 411247
• ClinVar RCV Id: RCV000475975
• dbSNP Id: rs1060503208
• MyVariant Identifiers: chr9:g.135776214C>T (hg19) ; chr9:g.132900827C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.132900827C>T , CM000671.2:g.132900827C>T	GRCh38
NC_000009.11:g.135776214C>T , CM000671.1:g.135776214C>T	GRCh37
NC_000009.10:g.134766035C>T	NCBI36
NG_012386.1:g.48807G>A , LRG_486:g.48807G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000475903.7:c.2510G>A	ENSP00000496126.2:p.Ser837Asn
ENST00000490179.4:c.2513G>A	ENSP00000495533.2:p.Ser838Asn
ENST00000642261.2:c.*292G>A	ENSP00000494743.2:n.*292G>A
ENST00000643275.2:c.*453G>A	ENSP00000495598.2:n.*453G>A
ENST00000643362.2:c.2126G>A	ENSP00000496398.2:p.Ser709Asn
ENST00000643625.2:c.*255G>A	ENSP00000495546.2:n.*255G>A
ENST00000643691.2:c.2150G>A	ENSP00000494916.2:p.Ser717Asn
ENST00000644184.2:c.2471G>A	ENSP00000495428.2:p.Ser824Asn
ENST00000645129.2:c.2357G>A	ENSP00000493639.2:p.Ser786Asn
ENST00000646440.2:c.2513G>A	ENSP00000495830.2:p.Ser838Asn
ENST00000298552.9:c.2513G>A MANE Select	ENSP00000298552.3:p.Ser838Asn
ENST00000642261.1:c.573G>A
ENST00000642617.1:c.2510G>A	ENSP00000493773.1:p.Ser837Asn
ENST00000642627.1:c.2495G>A	ENSP00000496772.1:p.Ser832Asn
ENST00000642811.1:c.*2283G>A	ENSP00000495554.1:n.*2283G>A
ENST00000643072.1:c.2360G>A	ENSP00000496691.1:p.Ser787Asn
ENST00000643275.1:c.987G>A	ENSP00000495598.1:n.987G>A
ENST00000643583.1:c.2498G>A	ENSP00000494685.1:p.Ser833Asn
ENST00000643625.1:c.390G>A	ENSP00000495546.1:n.390G>A
ENST00000643875.1:c.2513G>A	ENSP00000495158.1:p.Ser838Asn
ENST00000644097.1:c.2510G>A	ENSP00000494682.1:p.Ser837Asn
ENST00000644184.1:c.1208G>A	ENSP00000495428.1:p.Ser403Asn
ENST00000644255.1:c.*2280G>A	ENSP00000493608.1:n.*2280G>A
ENST00000644319.1:n.2888G>A
ENST00000644786.1:n.172G>A
ENST00000644882.1:n.1426G>A
ENST00000645901.1:n.3364G>A
ENST00000646391.1:c.*2283G>A	ENSP00000494104.1:n.*2283G>A
ENST00000646625.1:c.2513G>A	ENSP00000496263.1:p.Ser838Asn
ENST00000647262.1:n.1478G>A
ENST00000647279.1:c.*1752G>A	ENSP00000494502.1:n.*1752G>A
ENST00000647506.1:n.3389G>A
ENST00000647534.1:n.1577G>A
ENST00000298552.7:c.2513G>A	ENSP00000298552.3:p.Ser838Asn
ENST00000440111.6:c.2513G>A	ENSP00000394524.2:p.Ser838Asn
ENST00000545250.5:c.2360G>A	ENSP00000444017.1:p.Ser787Asn
NM_000368.4:c.2513G>A , LRG_486t1:c.2513G>A	NP_000359.1:p.Ser838Asn
NM_001162426.1:c.2510G>A	NP_001155898.1:p.Ser837Asn
NM_001162427.1:c.2360G>A	NP_001155899.1:p.Ser787Asn
XM_005272211.1:c.2513G>A	XP_005272268.1:p.Ser838Asn
XM_006717271.1:c.2513G>A	XP_006717334.1:p.Ser838Asn
XM_011518979.1:c.2513G>A	XP_011517281.1:p.Ser838Asn
NM_001362177.1:c.2150G>A	NP_001349106.1:p.Ser717Asn
XM_011518979.2:c.2513G>A	XP_011517281.1:p.Ser838Asn
XM_017015096.1:c.2513G>A	XP_016870585.1:p.Ser838Asn
XM_017015097.1:c.2513G>A	XP_016870586.1:p.Ser838Asn
XM_017015098.1:c.2510G>A	XP_016870587.1:p.Ser837Asn
XM_017015100.1:c.2150G>A	XP_016870589.1:p.Ser717Asn
XM_017015101.1:c.2147G>A	XP_016870590.1:p.Ser716Asn
NM_000368.5:c.2513G>A MANE Select	NP_000359.1:p.Ser838Asn
NM_001162426.2:c.2510G>A	NP_001155898.1:p.Ser837Asn
NM_001162427.2:c.2360G>A	NP_001155899.1:p.Ser787Asn
NM_001362177.2:c.2150G>A	NP_001349106.1:p.Ser717Asn