Canonical Allele Identifier: CA006184

Gene: TSC1

Linked Data

• ClinVar Variation Id: 48923
• ClinVar RCV Id: RCV000042174 ; RCV002513613
• dbSNP Id: rs118203663
• MyVariant Identifiers: chr9:g.135778133C>T (hg19) ; chr9:g.132902746C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.132902746C>T , CM000671.2:g.132902746C>T	GRCh38
NC_000009.11:g.135778133C>T , CM000671.1:g.135778133C>T	GRCh37
NC_000009.10:g.134767954C>T	NCBI36
NG_012386.1:g.46888G>A , LRG_486:g.46888G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475903.7:c.2247G>A	ENSP00000496126.2:p.Trp749Ter
ENST00000490179.4:c.2250G>A	ENSP00000495533.2:p.Trp750Ter
ENST00000642261.2:c.*29G>A	ENSP00000494743.2:n.*29G>A
ENST00000643275.2:c.*190G>A	ENSP00000495598.2:n.*190G>A
ENST00000643362.2:c.1863G>A	ENSP00000496398.2:p.Trp621Ter
ENST00000643625.2:c.2083G>A	ENSP00000495546.2:p.Glu695Lys
ENST00000643691.2:c.1887G>A	ENSP00000494916.2:p.Trp629Ter
ENST00000644184.2:c.2250G>A	ENSP00000495428.2:p.Trp750Ter
ENST00000645129.2:c.2094G>A	ENSP00000493639.2:p.Trp698Ter
ENST00000646440.2:c.2250G>A	ENSP00000495830.2:p.Trp750Ter
ENST00000298552.9:c.2250G>A MANE Select	ENSP00000298552.3:p.Trp750Ter
ENST00000642261.1:c.310G>A
ENST00000642617.1:c.2247G>A	ENSP00000493773.1:p.Trp749Ter
ENST00000642627.1:c.2232G>A	ENSP00000496772.1:p.Trp744Ter
ENST00000642811.1:c.*2020G>A	ENSP00000495554.1:n.*2020G>A
ENST00000643072.1:c.2097G>A	ENSP00000496691.1:p.Trp699Ter
ENST00000643275.1:c.724G>A	ENSP00000495598.1:n.724G>A
ENST00000643583.1:c.2235G>A	ENSP00000494685.1:p.Trp745Ter
ENST00000643625.1:c.127G>A	ENSP00000495546.1:p.Glu43Lys
ENST00000643875.1:c.2250G>A	ENSP00000495158.1:p.Trp750Ter
ENST00000644097.1:c.2247G>A	ENSP00000494682.1:p.Trp749Ter
ENST00000644184.1:c.987G>A	ENSP00000495428.1:p.Trp329Ter
ENST00000644255.1:c.*2017G>A	ENSP00000493608.1:n.*2017G>A
ENST00000644319.1:n.2625G>A
ENST00000644882.1:n.1205G>A
ENST00000645901.1:n.3101G>A
ENST00000646391.1:c.*2020G>A	ENSP00000494104.1:n.*2020G>A
ENST00000646625.1:c.2250G>A	ENSP00000496263.1:p.Trp750Ter
ENST00000647262.1:n.1215G>A
ENST00000647279.1:c.*1489G>A	ENSP00000494502.1:n.*1489G>A
ENST00000647506.1:n.3126G>A
ENST00000647534.1:n.1314G>A
ENST00000298552.7:c.2250G>A	ENSP00000298552.3:p.Trp750Ter
ENST00000440111.6:c.2250G>A	ENSP00000394524.2:p.Trp750Ter
ENST00000545250.5:c.2097G>A	ENSP00000444017.1:p.Trp699Ter
NM_000368.4:c.2250G>A , LRG_486t1:c.2250G>A	NP_000359.1:p.Trp750Ter
NM_001162426.1:c.2247G>A	NP_001155898.1:p.Trp749Ter
NM_001162427.1:c.2097G>A	NP_001155899.1:p.Trp699Ter
XM_005272211.1:c.2250G>A	XP_005272268.1:p.Trp750Ter
XM_006717271.1:c.2250G>A	XP_006717334.1:p.Trp750Ter
XM_011518979.1:c.2250G>A	XP_011517281.1:p.Trp750Ter
NM_001362177.1:c.1887G>A	NP_001349106.1:p.Trp629Ter
XM_011518979.2:c.2250G>A	XP_011517281.1:p.Trp750Ter
XM_017015096.1:c.2250G>A	XP_016870585.1:p.Trp750Ter
XM_017015097.1:c.2250G>A	XP_016870586.1:p.Trp750Ter
XM_017015098.1:c.2247G>A	XP_016870587.1:p.Trp749Ter
XM_017015100.1:c.1887G>A	XP_016870589.1:p.Trp629Ter
XM_017015101.1:c.1884G>A	XP_016870590.1:p.Trp628Ter
NM_000368.5:c.2250G>A MANE Select	NP_000359.1:p.Trp750Ter
NM_001162426.2:c.2247G>A	NP_001155898.1:p.Trp749Ter
NM_001162427.2:c.2097G>A	NP_001155899.1:p.Trp699Ter
NM_001362177.2:c.1887G>A	NP_001349106.1:p.Trp629Ter