Canonical Allele Identifier: CA375359501

Gene: TSC1

Linked Data

• ClinVar Variation Id: 2472153
• ClinVar RCV Id: RCV003203007 ; RCV003614210
• dbSNP Id: rs2131732720
• MyVariant Identifiers: chr9:g.135778056T>C (hg19) ; chr9:g.132902669T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.132902669T>C , CM000671.2:g.132902669T>C	GRCh38
NC_000009.11:g.135778056T>C , CM000671.1:g.135778056T>C	GRCh37
NC_000009.10:g.134767877T>C	NCBI36
NG_012386.1:g.46965A>G , LRG_486:g.46965A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000475903.7:c.2324A>G	ENSP00000496126.2:p.His775Arg
ENST00000490179.4:c.2327A>G	ENSP00000495533.2:p.His776Arg
ENST00000642261.2:c.*106A>G	ENSP00000494743.2:n.*106A>G
ENST00000643275.2:c.*267A>G	ENSP00000495598.2:n.*267A>G
ENST00000643362.2:c.1940A>G	ENSP00000496398.2:p.His647Arg
ENST00000643625.2:c.*69A>G	ENSP00000495546.2:n.*69A>G
ENST00000643691.2:c.1964A>G	ENSP00000494916.2:p.His655Arg
ENST00000644184.2:c.2327A>G	ENSP00000495428.2:p.His776Arg
ENST00000645129.2:c.2171A>G	ENSP00000493639.2:p.His724Arg
ENST00000646440.2:c.2327A>G	ENSP00000495830.2:p.His776Arg
ENST00000298552.9:c.2327A>G MANE Select	ENSP00000298552.3:p.His776Arg
ENST00000642261.1:c.387A>G
ENST00000642617.1:c.2324A>G	ENSP00000493773.1:p.His775Arg
ENST00000642627.1:c.2309A>G	ENSP00000496772.1:p.His770Arg
ENST00000642811.1:c.*2097A>G	ENSP00000495554.1:n.*2097A>G
ENST00000643072.1:c.2174A>G	ENSP00000496691.1:p.His725Arg
ENST00000643275.1:c.801A>G	ENSP00000495598.1:n.801A>G
ENST00000643583.1:c.2312A>G	ENSP00000494685.1:p.His771Arg
ENST00000643625.1:c.204A>G	ENSP00000495546.1:n.204A>G
ENST00000643875.1:c.2327A>G	ENSP00000495158.1:p.His776Arg
ENST00000644097.1:c.2324A>G	ENSP00000494682.1:p.His775Arg
ENST00000644184.1:c.1064A>G	ENSP00000495428.1:p.His355Arg
ENST00000644255.1:c.*2094A>G	ENSP00000493608.1:n.*2094A>G
ENST00000644319.1:n.2702A>G
ENST00000644882.1:n.1282A>G
ENST00000645901.1:n.3178A>G
ENST00000646391.1:c.*2097A>G	ENSP00000494104.1:n.*2097A>G
ENST00000646625.1:c.2327A>G	ENSP00000496263.1:p.His776Arg
ENST00000647262.1:n.1292A>G
ENST00000647279.1:c.*1566A>G	ENSP00000494502.1:n.*1566A>G
ENST00000647506.1:n.3203A>G
ENST00000647534.1:n.1391A>G
ENST00000298552.7:c.2327A>G	ENSP00000298552.3:p.His776Arg
ENST00000440111.6:c.2327A>G	ENSP00000394524.2:p.His776Arg
ENST00000545250.5:c.2174A>G	ENSP00000444017.1:p.His725Arg
NM_000368.4:c.2327A>G , LRG_486t1:c.2327A>G	NP_000359.1:p.His776Arg
NM_001162426.1:c.2324A>G	NP_001155898.1:p.His775Arg
NM_001162427.1:c.2174A>G	NP_001155899.1:p.His725Arg
XM_005272211.1:c.2327A>G	XP_005272268.1:p.His776Arg
XM_006717271.1:c.2327A>G	XP_006717334.1:p.His776Arg
XM_011518979.1:c.2327A>G	XP_011517281.1:p.His776Arg
NM_001362177.1:c.1964A>G	NP_001349106.1:p.His655Arg
XM_011518979.2:c.2327A>G	XP_011517281.1:p.His776Arg
XM_017015096.1:c.2327A>G	XP_016870585.1:p.His776Arg
XM_017015097.1:c.2327A>G	XP_016870586.1:p.His776Arg
XM_017015098.1:c.2324A>G	XP_016870587.1:p.His775Arg
XM_017015100.1:c.1964A>G	XP_016870589.1:p.His655Arg
XM_017015101.1:c.1961A>G	XP_016870590.1:p.His654Arg
NM_000368.5:c.2327A>G MANE Select	NP_000359.1:p.His776Arg
NM_001162426.2:c.2324A>G	NP_001155898.1:p.His775Arg
NM_001162427.2:c.2174A>G	NP_001155899.1:p.His725Arg
NM_001362177.2:c.1964A>G	NP_001349106.1:p.His655Arg