Canonical Allele Identifier: CA375366334

Gene: TSC1

Linked Data

• ClinVar Variation Id: 2004175
• ClinVar RCV Id: RCV002815914
• MyVariant Identifiers: chr9:g.135771659A>G (hg19) ; chr9:g.132896272A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.132896272A>G , CM000671.2:g.132896272A>G	GRCh38
NC_000009.11:g.135771659A>G , CM000671.1:g.135771659A>G	GRCh37
NC_000009.10:g.134761480A>G	NCBI36
NG_012386.1:g.53362T>C , LRG_486:g.53362T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475903.7:c.3455T>C	ENSP00000496126.2:p.Ile1152Thr
ENST00000490179.4:c.3458T>C	ENSP00000495533.2:p.Ile1153Thr
ENST00000642261.2:c.*1314T>C	ENSP00000494743.2:n.*1314T>C
ENST00000643275.2:c.*1398T>C	ENSP00000495598.2:n.*1398T>C
ENST00000643362.2:c.3071T>C	ENSP00000496398.2:p.Ile1024Thr
ENST00000643625.2:c.*1200T>C	ENSP00000495546.2:n.*1200T>C
ENST00000643691.2:c.3095T>C	ENSP00000494916.2:p.Ile1032Thr
ENST00000644184.2:c.3416T>C	ENSP00000495428.2:p.Ile1139Thr
ENST00000645129.2:c.3302T>C	ENSP00000493639.2:p.Ile1101Thr
ENST00000646440.2:c.3458T>C	ENSP00000495830.2:p.Ile1153Thr
ENST00000298552.9:c.3458T>C MANE Select	ENSP00000298552.3:p.Ile1153Thr
ENST00000642617.1:c.3455T>C	ENSP00000493773.1:p.Ile1152Thr
ENST00000642627.1:c.3440T>C	ENSP00000496772.1:p.Ile1147Thr
ENST00000642811.1:c.*3228T>C	ENSP00000495554.1:n.*3228T>C
ENST00000643072.1:c.3305T>C	ENSP00000496691.1:p.Ile1102Thr
ENST00000643583.1:c.3443T>C	ENSP00000494685.1:p.Ile1148Thr
ENST00000643625.1:c.1335T>C	ENSP00000495546.1:n.1335T>C
ENST00000643875.1:c.3458T>C	ENSP00000495158.1:p.Ile1153Thr
ENST00000644097.1:c.3455T>C	ENSP00000494682.1:p.Ile1152Thr
ENST00000644184.1:c.2153T>C	ENSP00000495428.1:p.Ile718Thr
ENST00000644255.1:c.*3225T>C	ENSP00000493608.1:n.*3225T>C
ENST00000644319.1:n.3833T>C
ENST00000644786.1:n.1117T>C
ENST00000644882.1:n.2366T>C
ENST00000645901.1:n.4309T>C
ENST00000646391.1:c.*3228T>C	ENSP00000494104.1:n.*3228T>C
ENST00000646625.1:c.3458T>C	ENSP00000496263.1:p.Ile1153Thr
ENST00000647262.1:n.2423T>C
ENST00000647279.1:c.*2697T>C	ENSP00000494502.1:n.*2697T>C
ENST00000647534.1:n.2522T>C
ENST00000298552.7:c.3458T>C	ENSP00000298552.3:p.Ile1153Thr
ENST00000440111.6:c.3458T>C	ENSP00000394524.2:p.Ile1153Thr
ENST00000545250.5:c.3305T>C	ENSP00000444017.1:p.Ile1102Thr
NM_000368.4:c.3458T>C , LRG_486t1:c.3458T>C	NP_000359.1:p.Ile1153Thr
NM_001162426.1:c.3455T>C	NP_001155898.1:p.Ile1152Thr
NM_001162427.1:c.3305T>C	NP_001155899.1:p.Ile1102Thr
XM_005272211.1:c.3458T>C	XP_005272268.1:p.Ile1153Thr
XM_006717271.1:c.3458T>C	XP_006717334.1:p.Ile1153Thr
XM_011518979.1:c.3458T>C	XP_011517281.1:p.Ile1153Thr
NM_001362177.1:c.3095T>C	NP_001349106.1:p.Ile1032Thr
XM_011518979.2:c.3458T>C	XP_011517281.1:p.Ile1153Thr
XM_017015096.1:c.3458T>C	XP_016870585.1:p.Ile1153Thr
XM_017015097.1:c.3458T>C	XP_016870586.1:p.Ile1153Thr
XM_017015098.1:c.3455T>C	XP_016870587.1:p.Ile1152Thr
XM_017015100.1:c.3095T>C	XP_016870589.1:p.Ile1032Thr
XM_017015101.1:c.3092T>C	XP_016870590.1:p.Ile1031Thr
NM_000368.5:c.3458T>C MANE Select	NP_000359.1:p.Ile1153Thr
NM_001162426.2:c.3455T>C	NP_001155898.1:p.Ile1152Thr
NM_001162427.2:c.3305T>C	NP_001155899.1:p.Ile1102Thr
NM_001362177.2:c.3095T>C	NP_001349106.1:p.Ile1032Thr