Canonical Allele Identifier: CA467594442

Gene: TSC1

Linked Data

• ClinVar Variation Id: 1558488
• ClinVar RCV Id: RCV002199956 ; RCV003893167
• dbSNP Id: rs2131685313
• MyVariant Identifiers: chr9:g.135776126C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.132900739C>T , CM000671.2:g.132900739C>T	GRCh38
NC_000009.11:g.135776126C>T , CM000671.1:g.135776126C>T	GRCh37
NC_000009.10:g.134765947C>T	NCBI36
NG_012386.1:g.48895G>A , LRG_486:g.48895G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475903.7:c.2598G>A	ENSP00000496126.2:p.Gln866=
ENST00000490179.4:c.2601G>A	ENSP00000495533.2:p.Gln867=
ENST00000642261.2:c.*380G>A	ENSP00000494743.2:n.*380G>A
ENST00000643275.2:c.*541G>A	ENSP00000495598.2:n.*541G>A
ENST00000643362.2:c.2214G>A	ENSP00000496398.2:p.Gln738=
ENST00000643625.2:c.*343G>A	ENSP00000495546.2:n.*343G>A
ENST00000643691.2:c.2238G>A	ENSP00000494916.2:p.Gln746=
ENST00000644184.2:c.2559G>A	ENSP00000495428.2:p.Gln853=
ENST00000645129.2:c.2445G>A	ENSP00000493639.2:p.Gln815=
ENST00000646440.2:c.2601G>A	ENSP00000495830.2:p.Gln867=
ENST00000298552.9:c.2601G>A MANE Select	ENSP00000298552.3:p.Gln867=
ENST00000642261.1:c.661G>A
ENST00000642617.1:c.2598G>A	ENSP00000493773.1:p.Gln866=
ENST00000642627.1:c.2583G>A	ENSP00000496772.1:p.Gln861=
ENST00000642811.1:c.*2371G>A	ENSP00000495554.1:n.*2371G>A
ENST00000643072.1:c.2448G>A	ENSP00000496691.1:p.Gln816=
ENST00000643275.1:c.1075G>A	ENSP00000495598.1:n.1075G>A
ENST00000643583.1:c.2586G>A	ENSP00000494685.1:p.Gln862=
ENST00000643625.1:c.478G>A	ENSP00000495546.1:n.478G>A
ENST00000643875.1:c.2601G>A	ENSP00000495158.1:p.Gln867=
ENST00000644097.1:c.2598G>A	ENSP00000494682.1:p.Gln866=
ENST00000644184.1:c.1296G>A	ENSP00000495428.1:p.Gln432=
ENST00000644255.1:c.*2368G>A	ENSP00000493608.1:n.*2368G>A
ENST00000644319.1:n.2976G>A
ENST00000644786.1:n.260G>A
ENST00000644882.1:n.1514G>A
ENST00000645901.1:n.3452G>A
ENST00000646391.1:c.*2371G>A	ENSP00000494104.1:n.*2371G>A
ENST00000646625.1:c.2601G>A	ENSP00000496263.1:p.Gln867=
ENST00000647262.1:n.1566G>A
ENST00000647279.1:c.*1840G>A	ENSP00000494502.1:n.*1840G>A
ENST00000647506.1:n.3477G>A
ENST00000647534.1:n.1665G>A
ENST00000298552.7:c.2601G>A	ENSP00000298552.3:p.Gln867=
ENST00000440111.6:c.2601G>A	ENSP00000394524.2:p.Gln867=
ENST00000545250.5:c.2448G>A	ENSP00000444017.1:p.Gln816=
NM_000368.4:c.2601G>A , LRG_486t1:c.2601G>A	NP_000359.1:p.Gln867=
NM_001162426.1:c.2598G>A	NP_001155898.1:p.Gln866=
NM_001162427.1:c.2448G>A	NP_001155899.1:p.Gln816=
XM_005272211.1:c.2601G>A	XP_005272268.1:p.Gln867=
XM_006717271.1:c.2601G>A	XP_006717334.1:p.Gln867=
XM_011518979.1:c.2601G>A	XP_011517281.1:p.Gln867=
NM_001362177.1:c.2238G>A	NP_001349106.1:p.Gln746=
XM_011518979.2:c.2601G>A	XP_011517281.1:p.Gln867=
XM_017015096.1:c.2601G>A	XP_016870585.1:p.Gln867=
XM_017015097.1:c.2601G>A	XP_016870586.1:p.Gln867=
XM_017015098.1:c.2598G>A	XP_016870587.1:p.Gln866=
XM_017015100.1:c.2238G>A	XP_016870589.1:p.Gln746=
XM_017015101.1:c.2235G>A	XP_016870590.1:p.Gln745=
NM_000368.5:c.2601G>A MANE Select	NP_000359.1:p.Gln867=
NM_001162426.2:c.2598G>A	NP_001155898.1:p.Gln866=
NM_001162427.2:c.2448G>A	NP_001155899.1:p.Gln816=
NM_001362177.2:c.2238G>A	NP_001349106.1:p.Gln746=