Canonical Allele Identifier: CA006227

Gene: TSC1

Linked Data

• ClinVar Variation Id: 48929
• ClinVar RCV Id: RCV000042180 ; RCV000422886 ; RCV001199389
• dbSNP Id: rs118203668
• MyVariant Identifiers: chr9:g.135778100G>T (hg19) ; chr9:g.132902713G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.132902713G>T , CM000671.2:g.132902713G>T	GRCh38
NC_000009.11:g.135778100G>T , CM000671.1:g.135778100G>T	GRCh37
NC_000009.10:g.134767921G>T	NCBI36
NG_012386.1:g.46921C>A , LRG_486:g.46921C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475903.7:c.2280C>A	ENSP00000496126.2:p.Tyr760Ter
ENST00000490179.4:c.2283C>A	ENSP00000495533.2:p.Tyr761Ter
ENST00000642261.2:c.*62C>A	ENSP00000494743.2:n.*62C>A
ENST00000643275.2:c.*223C>A	ENSP00000495598.2:n.*223C>A
ENST00000643362.2:c.1896C>A	ENSP00000496398.2:p.Tyr632Ter
ENST00000643625.2:c.*25C>A	ENSP00000495546.2:n.*25C>A
ENST00000643691.2:c.1920C>A	ENSP00000494916.2:p.Tyr640Ter
ENST00000644184.2:c.2283C>A	ENSP00000495428.2:p.Tyr761Ter
ENST00000645129.2:c.2127C>A	ENSP00000493639.2:p.Tyr709Ter
ENST00000646440.2:c.2283C>A	ENSP00000495830.2:p.Tyr761Ter
ENST00000298552.9:c.2283C>A MANE Select	ENSP00000298552.3:p.Tyr761Ter
ENST00000642261.1:c.343C>A
ENST00000642617.1:c.2280C>A	ENSP00000493773.1:p.Tyr760Ter
ENST00000642627.1:c.2265C>A	ENSP00000496772.1:p.Tyr755Ter
ENST00000642811.1:c.*2053C>A	ENSP00000495554.1:n.*2053C>A
ENST00000643072.1:c.2130C>A	ENSP00000496691.1:p.Tyr710Ter
ENST00000643275.1:c.757C>A	ENSP00000495598.1:n.757C>A
ENST00000643583.1:c.2268C>A	ENSP00000494685.1:p.Tyr756Ter
ENST00000643625.1:c.160C>A	ENSP00000495546.1:n.160C>A
ENST00000643875.1:c.2283C>A	ENSP00000495158.1:p.Tyr761Ter
ENST00000644097.1:c.2280C>A	ENSP00000494682.1:p.Tyr760Ter
ENST00000644184.1:c.1020C>A	ENSP00000495428.1:p.Tyr340Ter
ENST00000644255.1:c.*2050C>A	ENSP00000493608.1:n.*2050C>A
ENST00000644319.1:n.2658C>A
ENST00000644882.1:n.1238C>A
ENST00000645901.1:n.3134C>A
ENST00000646391.1:c.*2053C>A	ENSP00000494104.1:n.*2053C>A
ENST00000646625.1:c.2283C>A	ENSP00000496263.1:p.Tyr761Ter
ENST00000647262.1:n.1248C>A
ENST00000647279.1:c.*1522C>A	ENSP00000494502.1:n.*1522C>A
ENST00000647506.1:n.3159C>A
ENST00000647534.1:n.1347C>A
ENST00000298552.7:c.2283C>A	ENSP00000298552.3:p.Tyr761Ter
ENST00000440111.6:c.2283C>A	ENSP00000394524.2:p.Tyr761Ter
ENST00000545250.5:c.2130C>A	ENSP00000444017.1:p.Tyr710Ter
NM_000368.4:c.2283C>A , LRG_486t1:c.2283C>A	NP_000359.1:p.Tyr761Ter
NM_001162426.1:c.2280C>A	NP_001155898.1:p.Tyr760Ter
NM_001162427.1:c.2130C>A	NP_001155899.1:p.Tyr710Ter
XM_005272211.1:c.2283C>A	XP_005272268.1:p.Tyr761Ter
XM_006717271.1:c.2283C>A	XP_006717334.1:p.Tyr761Ter
XM_011518979.1:c.2283C>A	XP_011517281.1:p.Tyr761Ter
NM_001362177.1:c.1920C>A	NP_001349106.1:p.Tyr640Ter
XM_011518979.2:c.2283C>A	XP_011517281.1:p.Tyr761Ter
XM_017015096.1:c.2283C>A	XP_016870585.1:p.Tyr761Ter
XM_017015097.1:c.2283C>A	XP_016870586.1:p.Tyr761Ter
XM_017015098.1:c.2280C>A	XP_016870587.1:p.Tyr760Ter
XM_017015100.1:c.1920C>A	XP_016870589.1:p.Tyr640Ter
XM_017015101.1:c.1917C>A	XP_016870590.1:p.Tyr639Ter
NM_000368.5:c.2283C>A MANE Select	NP_000359.1:p.Tyr761Ter
NM_001162426.2:c.2280C>A	NP_001155898.1:p.Tyr760Ter
NM_001162427.2:c.2130C>A	NP_001155899.1:p.Tyr710Ter
NM_001362177.2:c.1920C>A	NP_001349106.1:p.Tyr640Ter