Canonical Allele Identifier: CA007378

Gene: TSC1

Linked Data

• ClinVar Variation Id: 64745
• ClinVar RCV Id: RCV000054927 ; RCV001020306 ; RCV001084718 ; RCV000831184 ; RCV003398644
• dbSNP Id: rs397514806
• gnomAD v4: 9-132896294-C-A
• MyVariant Identifiers: chr9:g.135771681C>A (hg19) ; chr9:g.132896294C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.132896294C>A , CM000671.2:g.132896294C>A	GRCh38
NC_000009.11:g.135771681C>A , CM000671.1:g.135771681C>A	GRCh37
NC_000009.10:g.134761502C>A	NCBI36
NG_012386.1:g.53340G>T , LRG_486:g.53340G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475903.7:c.3433G>T	ENSP00000496126.2:p.Asp1145Tyr
ENST00000490179.4:c.3436G>T	ENSP00000495533.2:p.Asp1146Tyr
ENST00000642261.2:c.*1292G>T	ENSP00000494743.2:n.*1292G>T
ENST00000643275.2:c.*1376G>T	ENSP00000495598.2:n.*1376G>T
ENST00000643362.2:c.3049G>T	ENSP00000496398.2:p.Asp1017Tyr
ENST00000643625.2:c.*1178G>T	ENSP00000495546.2:n.*1178G>T
ENST00000643691.2:c.3073G>T	ENSP00000494916.2:p.Asp1025Tyr
ENST00000644184.2:c.3394G>T	ENSP00000495428.2:p.Asp1132Tyr
ENST00000645129.2:c.3280G>T	ENSP00000493639.2:p.Asp1094Tyr
ENST00000646440.2:c.3436G>T	ENSP00000495830.2:p.Asp1146Tyr
ENST00000298552.9:c.3436G>T MANE Select	ENSP00000298552.3:p.Asp1146Tyr
ENST00000642617.1:c.3433G>T	ENSP00000493773.1:p.Asp1145Tyr
ENST00000642627.1:c.3418G>T	ENSP00000496772.1:p.Asp1140Tyr
ENST00000642811.1:c.*3206G>T	ENSP00000495554.1:n.*3206G>T
ENST00000643072.1:c.3283G>T	ENSP00000496691.1:p.Asp1095Tyr
ENST00000643583.1:c.3421G>T	ENSP00000494685.1:p.Asp1141Tyr
ENST00000643625.1:c.1313G>T	ENSP00000495546.1:n.1313G>T
ENST00000643875.1:c.3436G>T	ENSP00000495158.1:p.Asp1146Tyr
ENST00000644097.1:c.3433G>T	ENSP00000494682.1:p.Asp1145Tyr
ENST00000644184.1:c.2131G>T	ENSP00000495428.1:p.Asp711Tyr
ENST00000644255.1:c.*3203G>T	ENSP00000493608.1:n.*3203G>T
ENST00000644319.1:n.3811G>T
ENST00000644786.1:n.1095G>T
ENST00000644882.1:n.2344G>T
ENST00000645901.1:n.4287G>T
ENST00000646391.1:c.*3206G>T	ENSP00000494104.1:n.*3206G>T
ENST00000646625.1:c.3436G>T	ENSP00000496263.1:p.Asp1146Tyr
ENST00000647262.1:n.2401G>T
ENST00000647279.1:c.*2675G>T	ENSP00000494502.1:n.*2675G>T
ENST00000647534.1:n.2500G>T
ENST00000298552.7:c.3436G>T	ENSP00000298552.3:p.Asp1146Tyr
ENST00000440111.6:c.3436G>T	ENSP00000394524.2:p.Asp1146Tyr
ENST00000545250.5:c.3283G>T	ENSP00000444017.1:p.Asp1095Tyr
NM_000368.4:c.3436G>T , LRG_486t1:c.3436G>T	NP_000359.1:p.Asp1146Tyr
NM_001162426.1:c.3433G>T	NP_001155898.1:p.Asp1145Tyr
NM_001162427.1:c.3283G>T	NP_001155899.1:p.Asp1095Tyr
XM_005272211.1:c.3436G>T	XP_005272268.1:p.Asp1146Tyr
XM_006717271.1:c.3436G>T	XP_006717334.1:p.Asp1146Tyr
XM_011518979.1:c.3436G>T	XP_011517281.1:p.Asp1146Tyr
NM_001362177.1:c.3073G>T	NP_001349106.1:p.Asp1025Tyr
XM_011518979.2:c.3436G>T	XP_011517281.1:p.Asp1146Tyr
XM_017015096.1:c.3436G>T	XP_016870585.1:p.Asp1146Tyr
XM_017015097.1:c.3436G>T	XP_016870586.1:p.Asp1146Tyr
XM_017015098.1:c.3433G>T	XP_016870587.1:p.Asp1145Tyr
XM_017015100.1:c.3073G>T	XP_016870589.1:p.Asp1025Tyr
XM_017015101.1:c.3070G>T	XP_016870590.1:p.Asp1024Tyr
NM_000368.5:c.3436G>T MANE Select	NP_000359.1:p.Asp1146Tyr
NM_001162426.2:c.3433G>T	NP_001155898.1:p.Asp1145Tyr
NM_001162427.2:c.3283G>T	NP_001155899.1:p.Asp1095Tyr
NM_001362177.2:c.3073G>T	NP_001349106.1:p.Asp1025Tyr