Canonical Allele Identifier: CA005793

Gene: TSC1

Linked Data

• ClinVar Variation Id: 48874
• ClinVar RCV Id: RCV000042125 ; RCV003326117
• dbSNP Id: rs118203621
• MyVariant Identifiers: chr9:g.135779811C>T (hg19) ; chr9:g.132904424C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.132904424C>T , CM000671.2:g.132904424C>T	GRCh38
NC_000009.11:g.135779811C>T , CM000671.1:g.135779811C>T	GRCh37
NC_000009.10:g.134769632C>T	NCBI36
NG_012386.1:g.45210G>A , LRG_486:g.45210G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475903.7:c.2025G>A	ENSP00000496126.2:p.Trp675Ter
ENST00000490179.4:c.2028G>A	ENSP00000495533.2:p.Trp676Ter
ENST00000642261.2:c.2028G>A	ENSP00000494743.2:p.Trp676Ter
ENST00000643275.2:c.1998-607G>A	ENSP00000495598.2:n.1998-607G>A
ENST00000643362.2:c.1641G>A	ENSP00000496398.2:p.Trp547Ter
ENST00000643625.2:c.2028G>A	ENSP00000495546.2:p.Trp676Ter
ENST00000643691.2:c.1665G>A	ENSP00000494916.2:p.Trp555Ter
ENST00000644184.2:c.2028G>A	ENSP00000495428.2:p.Trp676Ter
ENST00000645129.2:c.1872G>A	ENSP00000493639.2:p.Trp624Ter
ENST00000646440.2:c.2028G>A	ENSP00000495830.2:p.Trp676Ter
ENST00000298552.9:c.2028G>A MANE Select	ENSP00000298552.3:p.Trp676Ter
ENST00000642261.1:c.92G>A
ENST00000642617.1:c.2025G>A	ENSP00000493773.1:p.Trp675Ter
ENST00000642627.1:c.2025G>A	ENSP00000496772.1:p.Trp675Ter
ENST00000642811.1:c.*1798G>A	ENSP00000495554.1:n.*1798G>A
ENST00000643072.1:c.1875G>A	ENSP00000496691.1:p.Trp625Ter
ENST00000643275.1:c.516-607G>A	ENSP00000495598.1:n.516-607G>A
ENST00000643583.1:c.2028G>A	ENSP00000494685.1:p.Trp676Ter
ENST00000643625.1:c.72G>A	ENSP00000495546.1:p.Trp24Ter
ENST00000643875.1:c.2028G>A	ENSP00000495158.1:p.Trp676Ter
ENST00000644097.1:c.2025G>A	ENSP00000494682.1:p.Trp675Ter
ENST00000644184.1:c.765G>A	ENSP00000495428.1:p.Trp255Ter
ENST00000644255.1:c.*1795G>A	ENSP00000493608.1:n.*1795G>A
ENST00000644319.1:n.2403G>A
ENST00000644882.1:n.983G>A
ENST00000645901.1:n.2879G>A
ENST00000646391.1:c.*1798G>A	ENSP00000494104.1:n.*1798G>A
ENST00000646625.1:c.2028G>A	ENSP00000496263.1:p.Trp676Ter
ENST00000647262.1:n.993G>A
ENST00000647279.1:c.*1267G>A	ENSP00000494502.1:n.*1267G>A
ENST00000647506.1:n.2904G>A
ENST00000647534.1:n.1092G>A
ENST00000298552.7:c.2028G>A	ENSP00000298552.3:p.Trp676Ter
ENST00000440111.6:c.2028G>A	ENSP00000394524.2:p.Trp676Ter
ENST00000545250.5:c.1875G>A	ENSP00000444017.1:p.Trp625Ter
NM_000368.4:c.2028G>A , LRG_486t1:c.2028G>A	NP_000359.1:p.Trp676Ter
NM_001162426.1:c.2025G>A	NP_001155898.1:p.Trp675Ter
NM_001162427.1:c.1875G>A	NP_001155899.1:p.Trp625Ter
XM_005272211.1:c.2028G>A	XP_005272268.1:p.Trp676Ter
XM_006717271.1:c.2028G>A	XP_006717334.1:p.Trp676Ter
XM_011518979.1:c.2028G>A	XP_011517281.1:p.Trp676Ter
NM_001362177.1:c.1665G>A	NP_001349106.1:p.Trp555Ter
XM_011518979.2:c.2028G>A	XP_011517281.1:p.Trp676Ter
XM_017015096.1:c.2028G>A	XP_016870585.1:p.Trp676Ter
XM_017015097.1:c.2028G>A	XP_016870586.1:p.Trp676Ter
XM_017015098.1:c.2025G>A	XP_016870587.1:p.Trp675Ter
XM_017015100.1:c.1665G>A	XP_016870589.1:p.Trp555Ter
XM_017015101.1:c.1662G>A	XP_016870590.1:p.Trp554Ter
NM_000368.5:c.2028G>A MANE Select	NP_000359.1:p.Trp676Ter
NM_001162426.2:c.2025G>A	NP_001155898.1:p.Trp675Ter
NM_001162427.2:c.1875G>A	NP_001155899.1:p.Trp625Ter
NM_001362177.2:c.1665G>A	NP_001349106.1:p.Trp555Ter