Canonical Allele Identifier: CA375360093

Gene: TSC1

Linked Data

• MyVariant Identifiers: chr9:g.135778163C>A (hg19) ; chr9:g.132902776C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.132902776C>A , CM000671.2:g.132902776C>A	GRCh38
NC_000009.11:g.135778163C>A , CM000671.1:g.135778163C>A	GRCh37
NC_000009.10:g.134767984C>A	NCBI36
NG_012386.1:g.46858G>T , LRG_486:g.46858G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000475903.7:c.2217G>T	ENSP00000496126.2:p.Leu739Phe
ENST00000490179.4:c.2220G>T	ENSP00000495533.2:p.Leu740Phe
ENST00000642261.2:c.2216G>T	ENSP00000494743.2:p.Ter739Leu
ENST00000643275.2:c.*160G>T	ENSP00000495598.2:n.*160G>T
ENST00000643362.2:c.1833G>T	ENSP00000496398.2:p.Leu611Phe
ENST00000643625.2:c.2053G>T	ENSP00000495546.2:p.Glu685Ter
ENST00000643691.2:c.1857G>T	ENSP00000494916.2:p.Leu619Phe
ENST00000644184.2:c.2220G>T	ENSP00000495428.2:p.Leu740Phe
ENST00000645129.2:c.2064G>T	ENSP00000493639.2:p.Leu688Phe
ENST00000646440.2:c.2220G>T	ENSP00000495830.2:p.Leu740Phe
ENST00000298552.9:c.2220G>T MANE Select	ENSP00000298552.3:p.Leu740Phe
ENST00000642261.1:c.280G>T
ENST00000642617.1:c.2217G>T	ENSP00000493773.1:p.Leu739Phe
ENST00000642627.1:c.2202G>T	ENSP00000496772.1:p.Leu734Phe
ENST00000642811.1:c.*1990G>T	ENSP00000495554.1:n.*1990G>T
ENST00000643072.1:c.2067G>T	ENSP00000496691.1:p.Leu689Phe
ENST00000643275.1:c.694G>T	ENSP00000495598.1:n.694G>T
ENST00000643583.1:c.2205G>T	ENSP00000494685.1:p.Leu735Phe
ENST00000643625.1:c.97G>T	ENSP00000495546.1:p.Glu33Ter
ENST00000643875.1:c.2220G>T	ENSP00000495158.1:p.Leu740Phe
ENST00000644097.1:c.2217G>T	ENSP00000494682.1:p.Leu739Phe
ENST00000644184.1:c.957G>T	ENSP00000495428.1:p.Leu319Phe
ENST00000644255.1:c.*1987G>T	ENSP00000493608.1:n.*1987G>T
ENST00000644319.1:n.2595G>T
ENST00000644882.1:n.1175G>T
ENST00000645901.1:n.3071G>T
ENST00000646391.1:c.*1990G>T	ENSP00000494104.1:n.*1990G>T
ENST00000646625.1:c.2220G>T	ENSP00000496263.1:p.Leu740Phe
ENST00000647262.1:n.1185G>T
ENST00000647279.1:c.*1459G>T	ENSP00000494502.1:n.*1459G>T
ENST00000647506.1:n.3096G>T
ENST00000647534.1:n.1284G>T
ENST00000298552.7:c.2220G>T	ENSP00000298552.3:p.Leu740Phe
ENST00000440111.6:c.2220G>T	ENSP00000394524.2:p.Leu740Phe
ENST00000545250.5:c.2067G>T	ENSP00000444017.1:p.Leu689Phe
NM_000368.4:c.2220G>T , LRG_486t1:c.2220G>T	NP_000359.1:p.Leu740Phe
NM_001162426.1:c.2217G>T	NP_001155898.1:p.Leu739Phe
NM_001162427.1:c.2067G>T	NP_001155899.1:p.Leu689Phe
XM_005272211.1:c.2220G>T	XP_005272268.1:p.Leu740Phe
XM_006717271.1:c.2220G>T	XP_006717334.1:p.Leu740Phe
XM_011518979.1:c.2220G>T	XP_011517281.1:p.Leu740Phe
NM_001362177.1:c.1857G>T	NP_001349106.1:p.Leu619Phe
XM_011518979.2:c.2220G>T	XP_011517281.1:p.Leu740Phe
XM_017015096.1:c.2220G>T	XP_016870585.1:p.Leu740Phe
XM_017015097.1:c.2220G>T	XP_016870586.1:p.Leu740Phe
XM_017015098.1:c.2217G>T	XP_016870587.1:p.Leu739Phe
XM_017015100.1:c.1857G>T	XP_016870589.1:p.Leu619Phe
XM_017015101.1:c.1854G>T	XP_016870590.1:p.Leu618Phe
NM_000368.5:c.2220G>T MANE Select	NP_000359.1:p.Leu740Phe
NM_001162426.2:c.2217G>T	NP_001155898.1:p.Leu739Phe
NM_001162427.2:c.2067G>T	NP_001155899.1:p.Leu689Phe
NM_001362177.2:c.1857G>T	NP_001349106.1:p.Leu619Phe