Canonical Allele Identifier: CA200929014

Gene: TSC1

Linked Data

• dbSNP Id: rs78260659
• gnomAD v3: 9-132900717-T-G
• gnomAD v4: 9-132900717-T-G
• MyVariant Identifiers: chr9:g.135776104T>G (hg19) ; chr9:g.132900717T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.132900717T>G , CM000671.2:g.132900717T>G	GRCh38
NC_000009.11:g.135776104T>G , CM000671.1:g.135776104T>G	GRCh37
NC_000009.10:g.134765925T>G	NCBI36
NG_012386.1:g.48917A>C , LRG_486:g.48917A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000475903.7:c.2620A>C	ENSP00000496126.2:p.Lys874Gln
ENST00000490179.4:c.2623A>C	ENSP00000495533.2:p.Lys875Gln
ENST00000642261.2:c.*402A>C	ENSP00000494743.2:n.*402A>C
ENST00000643275.2:c.*563A>C	ENSP00000495598.2:n.*563A>C
ENST00000643362.2:c.2236A>C	ENSP00000496398.2:p.Lys746Gln
ENST00000643625.2:c.*365A>C	ENSP00000495546.2:n.*365A>C
ENST00000643691.2:c.2260A>C	ENSP00000494916.2:p.Lys754Gln
ENST00000644184.2:c.2581A>C	ENSP00000495428.2:p.Lys861Gln
ENST00000645129.2:c.2467A>C	ENSP00000493639.2:p.Lys823Gln
ENST00000646440.2:c.2623A>C	ENSP00000495830.2:p.Lys875Gln
ENST00000298552.9:c.2623A>C MANE Select	ENSP00000298552.3:p.Lys875Gln
ENST00000642261.1:c.683A>C
ENST00000642617.1:c.2620A>C	ENSP00000493773.1:p.Lys874Gln
ENST00000642627.1:c.2605A>C	ENSP00000496772.1:p.Lys869Gln
ENST00000642811.1:c.*2393A>C	ENSP00000495554.1:n.*2393A>C
ENST00000643072.1:c.2470A>C	ENSP00000496691.1:p.Lys824Gln
ENST00000643275.1:c.1097A>C	ENSP00000495598.1:n.1097A>C
ENST00000643583.1:c.2608A>C	ENSP00000494685.1:p.Lys870Gln
ENST00000643625.1:c.500A>C	ENSP00000495546.1:n.500A>C
ENST00000643875.1:c.2623A>C	ENSP00000495158.1:p.Lys875Gln
ENST00000644097.1:c.2620A>C	ENSP00000494682.1:p.Lys874Gln
ENST00000644184.1:c.1318A>C	ENSP00000495428.1:p.Lys440Gln
ENST00000644255.1:c.*2390A>C	ENSP00000493608.1:n.*2390A>C
ENST00000644319.1:n.2998A>C
ENST00000644786.1:n.282A>C
ENST00000644882.1:n.1536A>C
ENST00000645901.1:n.3474A>C
ENST00000646391.1:c.*2393A>C	ENSP00000494104.1:n.*2393A>C
ENST00000646625.1:c.2623A>C	ENSP00000496263.1:p.Lys875Gln
ENST00000647262.1:n.1588A>C
ENST00000647279.1:c.*1862A>C	ENSP00000494502.1:n.*1862A>C
ENST00000647506.1:n.3499A>C
ENST00000647534.1:n.1687A>C
ENST00000298552.7:c.2623A>C	ENSP00000298552.3:p.Lys875Gln
ENST00000440111.6:c.2623A>C	ENSP00000394524.2:p.Lys875Gln
ENST00000545250.5:c.2470A>C	ENSP00000444017.1:p.Lys824Gln
NM_000368.4:c.2623A>C , LRG_486t1:c.2623A>C	NP_000359.1:p.Lys875Gln
NM_001162426.1:c.2620A>C	NP_001155898.1:p.Lys874Gln
NM_001162427.1:c.2470A>C	NP_001155899.1:p.Lys824Gln
XM_005272211.1:c.2623A>C	XP_005272268.1:p.Lys875Gln
XM_006717271.1:c.2623A>C	XP_006717334.1:p.Lys875Gln
XM_011518979.1:c.2623A>C	XP_011517281.1:p.Lys875Gln
NM_001362177.1:c.2260A>C	NP_001349106.1:p.Lys754Gln
XM_011518979.2:c.2623A>C	XP_011517281.1:p.Lys875Gln
XM_017015096.1:c.2623A>C	XP_016870585.1:p.Lys875Gln
XM_017015097.1:c.2623A>C	XP_016870586.1:p.Lys875Gln
XM_017015098.1:c.2620A>C	XP_016870587.1:p.Lys874Gln
XM_017015100.1:c.2260A>C	XP_016870589.1:p.Lys754Gln
XM_017015101.1:c.2257A>C	XP_016870590.1:p.Lys753Gln
NM_000368.5:c.2623A>C MANE Select	NP_000359.1:p.Lys875Gln
NM_001162426.2:c.2620A>C	NP_001155898.1:p.Lys874Gln
NM_001162427.2:c.2470A>C	NP_001155899.1:p.Lys824Gln
NM_001362177.2:c.2260A>C	NP_001349106.1:p.Lys754Gln