Canonical Allele Identifier: CA1129704615

Gene: TSC1

Linked Data

• dbSNP Id: rs36000704
• gnomAD v3: 9-132900331-G-GAAA
• gnomAD v4: 9-132900331-G-GAAA

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.132900340_132900342dup , CM000671.2:g.132900340_132900342dup	GRCh38
NC_000009.11:g.135775727_135775729dup , CM000671.1:g.135775727_135775729dup	GRCh37
NC_000009.10:g.134765548_134765550dup	NCBI36
NG_012386.1:g.49300_49302dup , LRG_486:g.49300_49302dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475903.7:c.2622+381_2622+383dup	ENSP00000496126.2:n.2622+381_2622+383dup
ENST00000490179.4:c.2625+381_2625+383dup	ENSP00000495533.2:n.2625+381_2625+383dup
ENST00000642261.2:c.*404+381_*404+383dup	ENSP00000494743.2:n.*404+381_*404+383dup
ENST00000643275.2:c.*565+381_*565+383dup	ENSP00000495598.2:n.*565+381_*565+383dup
ENST00000643362.2:c.2238+381_2238+383dup	ENSP00000496398.2:n.2238+381_2238+383dup
ENST00000643625.2:c.*367+381_*367+383dup	ENSP00000495546.2:n.*367+381_*367+383dup
ENST00000643691.2:c.2262+381_2262+383dup	ENSP00000494916.2:n.2262+381_2262+383dup
ENST00000644184.2:c.2583+381_2583+383dup	ENSP00000495428.2:n.2583+381_2583+383dup
ENST00000645129.2:c.2469+381_2469+383dup	ENSP00000493639.2:n.2469+381_2469+383dup
ENST00000646440.2:c.2625+381_2625+383dup	ENSP00000495830.2:n.2625+381_2625+383dup
ENST00000298552.9:c.2625+381_2625+383dup MANE Select	ENSP00000298552.3:n.2625+381_2625+383dup
ENST00000642261.1:c.685+381_685+383dup
ENST00000642617.1:c.2622+381_2622+383dup	ENSP00000493773.1:n.2622+381_2622+383dup
ENST00000642627.1:c.2607+381_2607+383dup	ENSP00000496772.1:n.2607+381_2607+383dup
ENST00000642811.1:c.*2395+381_*2395+383dup	ENSP00000495554.1:n.*2395+381_*2395+383dup
ENST00000643072.1:c.2472+381_2472+383dup	ENSP00000496691.1:n.2472+381_2472+383dup
ENST00000643275.1:c.1099+381_1099+383dup	ENSP00000495598.1:n.1099+381_1099+383dup
ENST00000643583.1:c.2610+381_2610+383dup	ENSP00000494685.1:n.2610+381_2610+383dup
ENST00000643625.1:c.502+381_502+383dup	ENSP00000495546.1:n.502+381_502+383dup
ENST00000643875.1:c.2625+381_2625+383dup	ENSP00000495158.1:n.2625+381_2625+383dup
ENST00000644097.1:c.2622+381_2622+383dup	ENSP00000494682.1:n.2622+381_2622+383dup
ENST00000644184.1:c.1320+381_1320+383dup	ENSP00000495428.1:n.1320+381_1320+383dup
ENST00000644255.1:c.*2392+381_*2392+383dup	ENSP00000493608.1:n.*2392+381_*2392+383dup
ENST00000644319.1:n.3000+381_3000+383dup
ENST00000644786.1:n.284+381_284+383dup
ENST00000644882.1:n.1538+381_1538+383dup
ENST00000645901.1:n.3476+381_3476+383dup
ENST00000646391.1:c.*2395+381_*2395+383dup	ENSP00000494104.1:n.*2395+381_*2395+383dup
ENST00000646625.1:c.2625+381_2625+383dup	ENSP00000496263.1:n.2625+381_2625+383dup
ENST00000647262.1:n.1590+381_1590+383dup
ENST00000647279.1:c.*1864+381_*1864+383dup	ENSP00000494502.1:n.*1864+381_*1864+383dup
ENST00000647506.1:n.3882_3884dup
ENST00000647534.1:n.1689+381_1689+383dup
ENST00000298552.7:c.2625+381_2625+383dup	ENSP00000298552.3:n.2625+381_2625+383dup
ENST00000440111.6:c.2625+381_2625+383dup	ENSP00000394524.2:n.2625+381_2625+383dup
ENST00000545250.5:c.2472+381_2472+383dup	ENSP00000444017.1:n.2472+381_2472+383dup
NM_000368.4:c.2625+381_2625+383dup , LRG_486t1:c.2625+381_2625+383dup	NP_000359.1:n.2625+381_2625+383dup
NM_001162426.1:c.2622+381_2622+383dup	NP_001155898.1:n.2622+381_2622+383dup
NM_001162427.1:c.2472+381_2472+383dup	NP_001155899.1:n.2472+381_2472+383dup
XM_005272211.1:c.2625+381_2625+383dup	XP_005272268.1:n.2625+381_2625+383dup
XM_006717271.1:c.2625+381_2625+383dup	XP_006717334.1:n.2625+381_2625+383dup
XM_011518979.1:c.2625+381_2625+383dup	XP_011517281.1:n.2625+381_2625+383dup
NM_001362177.1:c.2262+381_2262+383dup	NP_001349106.1:n.2262+381_2262+383dup
XM_011518979.2:c.2625+381_2625+383dup	XP_011517281.1:n.2625+381_2625+383dup
XM_017015096.1:c.2625+381_2625+383dup	XP_016870585.1:n.2625+381_2625+383dup
XM_017015097.1:c.2625+381_2625+383dup	XP_016870586.1:n.2625+381_2625+383dup
XM_017015098.1:c.2622+381_2622+383dup	XP_016870587.1:n.2622+381_2622+383dup
XM_017015100.1:c.2262+381_2262+383dup	XP_016870589.1:n.2262+381_2262+383dup
XM_017015101.1:c.2259+381_2259+383dup	XP_016870590.1:n.2259+381_2259+383dup
NM_000368.5:c.2625+381_2625+383dup MANE Select	NP_000359.1:n.2625+381_2625+383dup
NM_001162426.2:c.2622+381_2622+383dup	NP_001155898.1:n.2622+381_2622+383dup
NM_001162427.2:c.2472+381_2472+383dup	NP_001155899.1:n.2472+381_2472+383dup
NM_001362177.2:c.2262+381_2262+383dup	NP_001349106.1:n.2262+381_2262+383dup