Canonical Allele Identifier: CA375366269

Gene: TSC1

Linked Data

• dbSNP Id: rs2131585269
• MyVariant Identifiers: chr9:g.135771633C>T (hg19) ; chr9:g.132896246C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.132896246C>T , CM000671.2:g.132896246C>T	GRCh38
NC_000009.11:g.135771633C>T , CM000671.1:g.135771633C>T	GRCh37
NC_000009.10:g.134761454C>T	NCBI36
NG_012386.1:g.53388G>A , LRG_486:g.53388G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000475903.7:c.3481G>A	ENSP00000496126.2:p.Glu1161Lys
ENST00000490179.4:c.3484G>A	ENSP00000495533.2:p.Glu1162Lys
ENST00000642261.2:c.*1340G>A	ENSP00000494743.2:n.*1340G>A
ENST00000643275.2:c.*1424G>A	ENSP00000495598.2:n.*1424G>A
ENST00000643362.2:c.3097G>A	ENSP00000496398.2:p.Glu1033Lys
ENST00000643625.2:c.*1226G>A	ENSP00000495546.2:n.*1226G>A
ENST00000643691.2:c.3121G>A	ENSP00000494916.2:p.Glu1041Lys
ENST00000644184.2:c.3442G>A	ENSP00000495428.2:p.Glu1148Lys
ENST00000645129.2:c.3328G>A	ENSP00000493639.2:p.Glu1110Lys
ENST00000646440.2:c.3484G>A	ENSP00000495830.2:p.Glu1162Lys
ENST00000298552.9:c.3484G>A MANE Select	ENSP00000298552.3:p.Glu1162Lys
ENST00000642617.1:c.3481G>A	ENSP00000493773.1:p.Glu1161Lys
ENST00000642627.1:c.3466G>A	ENSP00000496772.1:p.Glu1156Lys
ENST00000642811.1:c.*3254G>A	ENSP00000495554.1:n.*3254G>A
ENST00000643072.1:c.3331G>A	ENSP00000496691.1:p.Glu1111Lys
ENST00000643583.1:c.3469G>A	ENSP00000494685.1:p.Glu1157Lys
ENST00000643625.1:c.1361G>A	ENSP00000495546.1:n.1361G>A
ENST00000643875.1:c.3484G>A	ENSP00000495158.1:p.Glu1162Lys
ENST00000644097.1:c.3481G>A	ENSP00000494682.1:p.Glu1161Lys
ENST00000644184.1:c.2179G>A	ENSP00000495428.1:p.Glu727Lys
ENST00000644255.1:c.*3251G>A	ENSP00000493608.1:n.*3251G>A
ENST00000644319.1:n.3859G>A
ENST00000644786.1:n.1143G>A
ENST00000644882.1:n.2392G>A
ENST00000645901.1:n.4335G>A
ENST00000646391.1:c.*3254G>A	ENSP00000494104.1:n.*3254G>A
ENST00000646625.1:c.3484G>A	ENSP00000496263.1:p.Glu1162Lys
ENST00000647262.1:n.2449G>A
ENST00000647279.1:c.*2723G>A	ENSP00000494502.1:n.*2723G>A
ENST00000647534.1:n.2548G>A
ENST00000298552.7:c.3484G>A	ENSP00000298552.3:p.Glu1162Lys
ENST00000440111.6:c.3484G>A	ENSP00000394524.2:p.Glu1162Lys
ENST00000545250.5:c.3331G>A	ENSP00000444017.1:p.Glu1111Lys
NM_000368.4:c.3484G>A , LRG_486t1:c.3484G>A	NP_000359.1:p.Glu1162Lys
NM_001162426.1:c.3481G>A	NP_001155898.1:p.Glu1161Lys
NM_001162427.1:c.3331G>A	NP_001155899.1:p.Glu1111Lys
XM_005272211.1:c.3484G>A	XP_005272268.1:p.Glu1162Lys
XM_006717271.1:c.3484G>A	XP_006717334.1:p.Glu1162Lys
XM_011518979.1:c.3484G>A	XP_011517281.1:p.Glu1162Lys
NM_001362177.1:c.3121G>A	NP_001349106.1:p.Glu1041Lys
XM_011518979.2:c.3484G>A	XP_011517281.1:p.Glu1162Lys
XM_017015096.1:c.3484G>A	XP_016870585.1:p.Glu1162Lys
XM_017015097.1:c.3484G>A	XP_016870586.1:p.Glu1162Lys
XM_017015098.1:c.3481G>A	XP_016870587.1:p.Glu1161Lys
XM_017015100.1:c.3121G>A	XP_016870589.1:p.Glu1041Lys
XM_017015101.1:c.3118G>A	XP_016870590.1:p.Glu1040Lys
NM_000368.5:c.3484G>A MANE Select	NP_000359.1:p.Glu1162Lys
NM_001162426.2:c.3481G>A	NP_001155898.1:p.Glu1161Lys
NM_001162427.2:c.3331G>A	NP_001155899.1:p.Glu1111Lys
NM_001362177.2:c.3121G>A	NP_001349106.1:p.Glu1041Lys