Canonical Allele Identifier: CA375366342

Gene: TSC1

Linked Data

• ClinVar Variation Id: 534460
• ClinVar RCV Id: RCV000642027 ; RCV001548709 ; RCV002256433
• dbSNP Id: rs1554812543
• gnomAD v4: 9-132896275-T-C
• MyVariant Identifiers: chr9:g.135771662T>C (hg19) ; chr9:g.132896275T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.132896275T>C , CM000671.2:g.132896275T>C	GRCh38
NC_000009.11:g.135771662T>C , CM000671.1:g.135771662T>C	GRCh37
NC_000009.10:g.134761483T>C	NCBI36
NG_012386.1:g.53359A>G , LRG_486:g.53359A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475903.7:c.3452A>G	ENSP00000496126.2:p.His1151Arg
ENST00000490179.4:c.3455A>G	ENSP00000495533.2:p.His1152Arg
ENST00000642261.2:c.*1311A>G	ENSP00000494743.2:n.*1311A>G
ENST00000643275.2:c.*1395A>G	ENSP00000495598.2:n.*1395A>G
ENST00000643362.2:c.3068A>G	ENSP00000496398.2:p.His1023Arg
ENST00000643625.2:c.*1197A>G	ENSP00000495546.2:n.*1197A>G
ENST00000643691.2:c.3092A>G	ENSP00000494916.2:p.His1031Arg
ENST00000644184.2:c.3413A>G	ENSP00000495428.2:p.His1138Arg
ENST00000645129.2:c.3299A>G	ENSP00000493639.2:p.His1100Arg
ENST00000646440.2:c.3455A>G	ENSP00000495830.2:p.His1152Arg
ENST00000298552.9:c.3455A>G MANE Select	ENSP00000298552.3:p.His1152Arg
ENST00000642617.1:c.3452A>G	ENSP00000493773.1:p.His1151Arg
ENST00000642627.1:c.3437A>G	ENSP00000496772.1:p.His1146Arg
ENST00000642811.1:c.*3225A>G	ENSP00000495554.1:n.*3225A>G
ENST00000643072.1:c.3302A>G	ENSP00000496691.1:p.His1101Arg
ENST00000643583.1:c.3440A>G	ENSP00000494685.1:p.His1147Arg
ENST00000643625.1:c.1332A>G	ENSP00000495546.1:n.1332A>G
ENST00000643875.1:c.3455A>G	ENSP00000495158.1:p.His1152Arg
ENST00000644097.1:c.3452A>G	ENSP00000494682.1:p.His1151Arg
ENST00000644184.1:c.2150A>G	ENSP00000495428.1:p.His717Arg
ENST00000644255.1:c.*3222A>G	ENSP00000493608.1:n.*3222A>G
ENST00000644319.1:n.3830A>G
ENST00000644786.1:n.1114A>G
ENST00000644882.1:n.2363A>G
ENST00000645901.1:n.4306A>G
ENST00000646391.1:c.*3225A>G	ENSP00000494104.1:n.*3225A>G
ENST00000646625.1:c.3455A>G	ENSP00000496263.1:p.His1152Arg
ENST00000647262.1:n.2420A>G
ENST00000647279.1:c.*2694A>G	ENSP00000494502.1:n.*2694A>G
ENST00000647534.1:n.2519A>G
ENST00000298552.7:c.3455A>G	ENSP00000298552.3:p.His1152Arg
ENST00000440111.6:c.3455A>G	ENSP00000394524.2:p.His1152Arg
ENST00000545250.5:c.3302A>G	ENSP00000444017.1:p.His1101Arg
NM_000368.4:c.3455A>G , LRG_486t1:c.3455A>G	NP_000359.1:p.His1152Arg
NM_001162426.1:c.3452A>G	NP_001155898.1:p.His1151Arg
NM_001162427.1:c.3302A>G	NP_001155899.1:p.His1101Arg
XM_005272211.1:c.3455A>G	XP_005272268.1:p.His1152Arg
XM_006717271.1:c.3455A>G	XP_006717334.1:p.His1152Arg
XM_011518979.1:c.3455A>G	XP_011517281.1:p.His1152Arg
NM_001362177.1:c.3092A>G	NP_001349106.1:p.His1031Arg
XM_011518979.2:c.3455A>G	XP_011517281.1:p.His1152Arg
XM_017015096.1:c.3455A>G	XP_016870585.1:p.His1152Arg
XM_017015097.1:c.3455A>G	XP_016870586.1:p.His1152Arg
XM_017015098.1:c.3452A>G	XP_016870587.1:p.His1151Arg
XM_017015100.1:c.3092A>G	XP_016870589.1:p.His1031Arg
XM_017015101.1:c.3089A>G	XP_016870590.1:p.His1030Arg
NM_000368.5:c.3455A>G MANE Select	NP_000359.1:p.His1152Arg
NM_001162426.2:c.3452A>G	NP_001155898.1:p.His1151Arg
NM_001162427.2:c.3302A>G	NP_001155899.1:p.His1101Arg
NM_001362177.2:c.3092A>G	NP_001349106.1:p.His1031Arg