Canonical Allele Identifier: CA005764

Gene: TSC1

Linked Data

• ClinVar Variation Id: 48870
• ClinVar RCV Id: RCV000042121 ; RCV001203717
• dbSNP Id: rs118203617
• MyVariant Identifiers: chr9:g.135779833A>C (hg19) ; chr9:g.132904446A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.132904446A>C , CM000671.2:g.132904446A>C	GRCh38
NC_000009.11:g.135779833A>C , CM000671.1:g.135779833A>C	GRCh37
NC_000009.10:g.134769654A>C	NCBI36
NG_012386.1:g.45188T>G , LRG_486:g.45188T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475903.7:c.2003T>G	ENSP00000496126.2:p.Leu668Ter
ENST00000490179.4:c.2006T>G	ENSP00000495533.2:p.Leu669Ter
ENST00000642261.2:c.2006T>G	ENSP00000494743.2:p.Leu669Ter
ENST00000643275.2:c.1998-629T>G	ENSP00000495598.2:n.1998-629T>G
ENST00000643362.2:c.1619T>G	ENSP00000496398.2:p.Leu540Ter
ENST00000643625.2:c.2006T>G	ENSP00000495546.2:p.Leu669Ter
ENST00000643691.2:c.1643T>G	ENSP00000494916.2:p.Leu548Ter
ENST00000644184.2:c.2006T>G	ENSP00000495428.2:p.Leu669Ter
ENST00000645129.2:c.1850T>G	ENSP00000493639.2:p.Leu617Ter
ENST00000646440.2:c.2006T>G	ENSP00000495830.2:p.Leu669Ter
ENST00000298552.9:c.2006T>G MANE Select	ENSP00000298552.3:p.Leu669Ter
ENST00000642261.1:c.70T>G
ENST00000642617.1:c.2003T>G	ENSP00000493773.1:p.Leu668Ter
ENST00000642627.1:c.2003T>G	ENSP00000496772.1:p.Leu668Ter
ENST00000642811.1:c.*1776T>G	ENSP00000495554.1:n.*1776T>G
ENST00000643072.1:c.1853T>G	ENSP00000496691.1:p.Leu618Ter
ENST00000643275.1:c.516-629T>G	ENSP00000495598.1:n.516-629T>G
ENST00000643583.1:c.2006T>G	ENSP00000494685.1:p.Leu669Ter
ENST00000643625.1:c.50T>G	ENSP00000495546.1:p.Leu17Ter
ENST00000643875.1:c.2006T>G	ENSP00000495158.1:p.Leu669Ter
ENST00000644097.1:c.2003T>G	ENSP00000494682.1:p.Leu668Ter
ENST00000644184.1:c.743T>G	ENSP00000495428.1:p.Leu248Ter
ENST00000644255.1:c.*1773T>G	ENSP00000493608.1:n.*1773T>G
ENST00000644319.1:n.2381T>G
ENST00000644882.1:n.961T>G
ENST00000645901.1:n.2857T>G
ENST00000646391.1:c.*1776T>G	ENSP00000494104.1:n.*1776T>G
ENST00000646625.1:c.2006T>G	ENSP00000496263.1:p.Leu669Ter
ENST00000647262.1:n.971T>G
ENST00000647279.1:c.*1245T>G	ENSP00000494502.1:n.*1245T>G
ENST00000647506.1:n.2882T>G
ENST00000647534.1:n.1070T>G
ENST00000298552.7:c.2006T>G	ENSP00000298552.3:p.Leu669Ter
ENST00000440111.6:c.2006T>G	ENSP00000394524.2:p.Leu669Ter
ENST00000545250.5:c.1853T>G	ENSP00000444017.1:p.Leu618Ter
NM_000368.4:c.2006T>G , LRG_486t1:c.2006T>G	NP_000359.1:p.Leu669Ter
NM_001162426.1:c.2003T>G	NP_001155898.1:p.Leu668Ter
NM_001162427.1:c.1853T>G	NP_001155899.1:p.Leu618Ter
XM_005272211.1:c.2006T>G	XP_005272268.1:p.Leu669Ter
XM_006717271.1:c.2006T>G	XP_006717334.1:p.Leu669Ter
XM_011518979.1:c.2006T>G	XP_011517281.1:p.Leu669Ter
NM_001362177.1:c.1643T>G	NP_001349106.1:p.Leu548Ter
XM_011518979.2:c.2006T>G	XP_011517281.1:p.Leu669Ter
XM_017015096.1:c.2006T>G	XP_016870585.1:p.Leu669Ter
XM_017015097.1:c.2006T>G	XP_016870586.1:p.Leu669Ter
XM_017015098.1:c.2003T>G	XP_016870587.1:p.Leu668Ter
XM_017015100.1:c.1643T>G	XP_016870589.1:p.Leu548Ter
XM_017015101.1:c.1640T>G	XP_016870590.1:p.Leu547Ter
NM_000368.5:c.2006T>G MANE Select	NP_000359.1:p.Leu669Ter
NM_001162426.2:c.2003T>G	NP_001155898.1:p.Leu668Ter
NM_001162427.2:c.1853T>G	NP_001155899.1:p.Leu618Ter
NM_001362177.2:c.1643T>G	NP_001349106.1:p.Leu548Ter