Canonical Allele Identifier: CA375366252

Gene: TSC1

Linked Data

• MyVariant Identifiers: chr9:g.135771627T>A (hg19) ; chr9:g.132896240T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.132896240T>A , CM000671.2:g.132896240T>A	GRCh38
NC_000009.11:g.135771627T>A , CM000671.1:g.135771627T>A	GRCh37
NC_000009.10:g.134761448T>A	NCBI36
NG_012386.1:g.53394A>T , LRG_486:g.53394A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475903.7:c.3487A>T	ENSP00000496126.2:p.Ser1163Cys
ENST00000490179.4:c.3490A>T	ENSP00000495533.2:p.Ser1164Cys
ENST00000642261.2:c.*1346A>T	ENSP00000494743.2:n.*1346A>T
ENST00000643275.2:c.*1430A>T	ENSP00000495598.2:n.*1430A>T
ENST00000643362.2:c.3103A>T	ENSP00000496398.2:p.Ser1035Cys
ENST00000643625.2:c.*1232A>T	ENSP00000495546.2:n.*1232A>T
ENST00000643691.2:c.3127A>T	ENSP00000494916.2:p.Ser1043Cys
ENST00000644184.2:c.3448A>T	ENSP00000495428.2:p.Ser1150Cys
ENST00000645129.2:c.3334A>T	ENSP00000493639.2:p.Ser1112Cys
ENST00000646440.2:c.3490A>T	ENSP00000495830.2:p.Ser1164Cys
ENST00000298552.9:c.3490A>T MANE Select	ENSP00000298552.3:p.Ser1164Cys
ENST00000642617.1:c.3487A>T	ENSP00000493773.1:p.Ser1163Cys
ENST00000642627.1:c.3472A>T	ENSP00000496772.1:p.Ser1158Cys
ENST00000642811.1:c.*3260A>T	ENSP00000495554.1:n.*3260A>T
ENST00000643072.1:c.3337A>T	ENSP00000496691.1:p.Ser1113Cys
ENST00000643583.1:c.3475A>T	ENSP00000494685.1:p.Ser1159Cys
ENST00000643625.1:c.1367A>T	ENSP00000495546.1:n.1367A>T
ENST00000643875.1:c.3490A>T	ENSP00000495158.1:p.Ser1164Cys
ENST00000644097.1:c.3487A>T	ENSP00000494682.1:p.Ser1163Cys
ENST00000644184.1:c.2185A>T	ENSP00000495428.1:p.Ser729Cys
ENST00000644255.1:c.*3257A>T	ENSP00000493608.1:n.*3257A>T
ENST00000644319.1:n.3865A>T
ENST00000644786.1:n.1149A>T
ENST00000644882.1:n.2398A>T
ENST00000645901.1:n.4341A>T
ENST00000646391.1:c.*3260A>T	ENSP00000494104.1:n.*3260A>T
ENST00000646625.1:c.3490A>T	ENSP00000496263.1:p.Ser1164Cys
ENST00000647262.1:n.2455A>T
ENST00000647279.1:c.*2729A>T	ENSP00000494502.1:n.*2729A>T
ENST00000647534.1:n.2554A>T
ENST00000298552.7:c.3490A>T	ENSP00000298552.3:p.Ser1164Cys
ENST00000440111.6:c.3490A>T	ENSP00000394524.2:p.Ser1164Cys
ENST00000545250.5:c.3337A>T	ENSP00000444017.1:p.Ser1113Cys
NM_000368.4:c.3490A>T , LRG_486t1:c.3490A>T	NP_000359.1:p.Ser1164Cys
NM_001162426.1:c.3487A>T	NP_001155898.1:p.Ser1163Cys
NM_001162427.1:c.3337A>T	NP_001155899.1:p.Ser1113Cys
XM_005272211.1:c.3490A>T	XP_005272268.1:p.Ser1164Cys
XM_006717271.1:c.3490A>T	XP_006717334.1:p.Ser1164Cys
XM_011518979.1:c.3490A>T	XP_011517281.1:p.Ser1164Cys
NM_001362177.1:c.3127A>T	NP_001349106.1:p.Ser1043Cys
XM_011518979.2:c.3490A>T	XP_011517281.1:p.Ser1164Cys
XM_017015096.1:c.3490A>T	XP_016870585.1:p.Ser1164Cys
XM_017015097.1:c.3490A>T	XP_016870586.1:p.Ser1164Cys
XM_017015098.1:c.3487A>T	XP_016870587.1:p.Ser1163Cys
XM_017015100.1:c.3127A>T	XP_016870589.1:p.Ser1043Cys
XM_017015101.1:c.3124A>T	XP_016870590.1:p.Ser1042Cys
NM_000368.5:c.3490A>T MANE Select	NP_000359.1:p.Ser1164Cys
NM_001162426.2:c.3487A>T	NP_001155898.1:p.Ser1163Cys
NM_001162427.2:c.3337A>T	NP_001155899.1:p.Ser1113Cys
NM_001362177.2:c.3127A>T	NP_001349106.1:p.Ser1043Cys