Canonical Allele Identifier: CA375370010

Gene: TSC1

Linked Data

• MyVariant Identifiers: chr9:g.135776146G>T (hg19) ; chr9:g.132900759G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.132900759G>T , CM000671.2:g.132900759G>T	GRCh38
NC_000009.11:g.135776146G>T , CM000671.1:g.135776146G>T	GRCh37
NC_000009.10:g.134765967G>T	NCBI36
NG_012386.1:g.48875C>A , LRG_486:g.48875C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475903.7:c.2578C>A	ENSP00000496126.2:p.Leu860Ile
ENST00000490179.4:c.2581C>A	ENSP00000495533.2:p.Leu861Ile
ENST00000642261.2:c.*360C>A	ENSP00000494743.2:n.*360C>A
ENST00000643275.2:c.*521C>A	ENSP00000495598.2:n.*521C>A
ENST00000643362.2:c.2194C>A	ENSP00000496398.2:p.Leu732Ile
ENST00000643625.2:c.*323C>A	ENSP00000495546.2:n.*323C>A
ENST00000643691.2:c.2218C>A	ENSP00000494916.2:p.Leu740Ile
ENST00000644184.2:c.2539C>A	ENSP00000495428.2:p.Leu847Ile
ENST00000645129.2:c.2425C>A	ENSP00000493639.2:p.Leu809Ile
ENST00000646440.2:c.2581C>A	ENSP00000495830.2:p.Leu861Ile
ENST00000298552.9:c.2581C>A MANE Select	ENSP00000298552.3:p.Leu861Ile
ENST00000642261.1:c.641C>A
ENST00000642617.1:c.2578C>A	ENSP00000493773.1:p.Leu860Ile
ENST00000642627.1:c.2563C>A	ENSP00000496772.1:p.Leu855Ile
ENST00000642811.1:c.*2351C>A	ENSP00000495554.1:n.*2351C>A
ENST00000643072.1:c.2428C>A	ENSP00000496691.1:p.Leu810Ile
ENST00000643275.1:c.1055C>A	ENSP00000495598.1:n.1055C>A
ENST00000643583.1:c.2566C>A	ENSP00000494685.1:p.Leu856Ile
ENST00000643625.1:c.458C>A	ENSP00000495546.1:n.458C>A
ENST00000643875.1:c.2581C>A	ENSP00000495158.1:p.Leu861Ile
ENST00000644097.1:c.2578C>A	ENSP00000494682.1:p.Leu860Ile
ENST00000644184.1:c.1276C>A	ENSP00000495428.1:p.Leu426Ile
ENST00000644255.1:c.*2348C>A	ENSP00000493608.1:n.*2348C>A
ENST00000644319.1:n.2956C>A
ENST00000644786.1:n.240C>A
ENST00000644882.1:n.1494C>A
ENST00000645901.1:n.3432C>A
ENST00000646391.1:c.*2351C>A	ENSP00000494104.1:n.*2351C>A
ENST00000646625.1:c.2581C>A	ENSP00000496263.1:p.Leu861Ile
ENST00000647262.1:n.1546C>A
ENST00000647279.1:c.*1820C>A	ENSP00000494502.1:n.*1820C>A
ENST00000647506.1:n.3457C>A
ENST00000647534.1:n.1645C>A
ENST00000298552.7:c.2581C>A	ENSP00000298552.3:p.Leu861Ile
ENST00000440111.6:c.2581C>A	ENSP00000394524.2:p.Leu861Ile
ENST00000545250.5:c.2428C>A	ENSP00000444017.1:p.Leu810Ile
NM_000368.4:c.2581C>A , LRG_486t1:c.2581C>A	NP_000359.1:p.Leu861Ile
NM_001162426.1:c.2578C>A	NP_001155898.1:p.Leu860Ile
NM_001162427.1:c.2428C>A	NP_001155899.1:p.Leu810Ile
XM_005272211.1:c.2581C>A	XP_005272268.1:p.Leu861Ile
XM_006717271.1:c.2581C>A	XP_006717334.1:p.Leu861Ile
XM_011518979.1:c.2581C>A	XP_011517281.1:p.Leu861Ile
NM_001362177.1:c.2218C>A	NP_001349106.1:p.Leu740Ile
XM_011518979.2:c.2581C>A	XP_011517281.1:p.Leu861Ile
XM_017015096.1:c.2581C>A	XP_016870585.1:p.Leu861Ile
XM_017015097.1:c.2581C>A	XP_016870586.1:p.Leu861Ile
XM_017015098.1:c.2578C>A	XP_016870587.1:p.Leu860Ile
XM_017015100.1:c.2218C>A	XP_016870589.1:p.Leu740Ile
XM_017015101.1:c.2215C>A	XP_016870590.1:p.Leu739Ile
NM_000368.5:c.2581C>A MANE Select	NP_000359.1:p.Leu861Ile
NM_001162426.2:c.2578C>A	NP_001155898.1:p.Leu860Ile
NM_001162427.2:c.2428C>A	NP_001155899.1:p.Leu810Ile
NM_001362177.2:c.2218C>A	NP_001349106.1:p.Leu740Ile