Canonical Allele Identifier: CA375370272

Gene: TSC1

Linked Data

• MyVariant Identifiers: chr9:g.135776202T>G (hg19) ; chr9:g.132900815T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.132900815T>G , CM000671.2:g.132900815T>G	GRCh38
NC_000009.11:g.135776202T>G , CM000671.1:g.135776202T>G	GRCh37
NC_000009.10:g.134766023T>G	NCBI36
NG_012386.1:g.48819A>C , LRG_486:g.48819A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475903.7:c.2522A>C	ENSP00000496126.2:p.Gln841Pro
ENST00000490179.4:c.2525A>C	ENSP00000495533.2:p.Gln842Pro
ENST00000642261.2:c.*304A>C	ENSP00000494743.2:n.*304A>C
ENST00000643275.2:c.*465A>C	ENSP00000495598.2:n.*465A>C
ENST00000643362.2:c.2138A>C	ENSP00000496398.2:p.Gln713Pro
ENST00000643625.2:c.*267A>C	ENSP00000495546.2:n.*267A>C
ENST00000643691.2:c.2162A>C	ENSP00000494916.2:p.Gln721Pro
ENST00000644184.2:c.2483A>C	ENSP00000495428.2:p.Gln828Pro
ENST00000645129.2:c.2369A>C	ENSP00000493639.2:p.Gln790Pro
ENST00000646440.2:c.2525A>C	ENSP00000495830.2:p.Gln842Pro
ENST00000298552.9:c.2525A>C MANE Select	ENSP00000298552.3:p.Gln842Pro
ENST00000642261.1:c.585A>C
ENST00000642617.1:c.2522A>C	ENSP00000493773.1:p.Gln841Pro
ENST00000642627.1:c.2507A>C	ENSP00000496772.1:p.Gln836Pro
ENST00000642811.1:c.*2295A>C	ENSP00000495554.1:n.*2295A>C
ENST00000643072.1:c.2372A>C	ENSP00000496691.1:p.Gln791Pro
ENST00000643275.1:c.999A>C	ENSP00000495598.1:n.999A>C
ENST00000643583.1:c.2510A>C	ENSP00000494685.1:p.Gln837Pro
ENST00000643625.1:c.402A>C	ENSP00000495546.1:n.402A>C
ENST00000643875.1:c.2525A>C	ENSP00000495158.1:p.Gln842Pro
ENST00000644097.1:c.2522A>C	ENSP00000494682.1:p.Gln841Pro
ENST00000644184.1:c.1220A>C	ENSP00000495428.1:p.Gln407Pro
ENST00000644255.1:c.*2292A>C	ENSP00000493608.1:n.*2292A>C
ENST00000644319.1:n.2900A>C
ENST00000644786.1:n.184A>C
ENST00000644882.1:n.1438A>C
ENST00000645901.1:n.3376A>C
ENST00000646391.1:c.*2295A>C	ENSP00000494104.1:n.*2295A>C
ENST00000646625.1:c.2525A>C	ENSP00000496263.1:p.Gln842Pro
ENST00000647262.1:n.1490A>C
ENST00000647279.1:c.*1764A>C	ENSP00000494502.1:n.*1764A>C
ENST00000647506.1:n.3401A>C
ENST00000647534.1:n.1589A>C
ENST00000298552.7:c.2525A>C	ENSP00000298552.3:p.Gln842Pro
ENST00000440111.6:c.2525A>C	ENSP00000394524.2:p.Gln842Pro
ENST00000545250.5:c.2372A>C	ENSP00000444017.1:p.Gln791Pro
NM_000368.4:c.2525A>C , LRG_486t1:c.2525A>C	NP_000359.1:p.Gln842Pro
NM_001162426.1:c.2522A>C	NP_001155898.1:p.Gln841Pro
NM_001162427.1:c.2372A>C	NP_001155899.1:p.Gln791Pro
XM_005272211.1:c.2525A>C	XP_005272268.1:p.Gln842Pro
XM_006717271.1:c.2525A>C	XP_006717334.1:p.Gln842Pro
XM_011518979.1:c.2525A>C	XP_011517281.1:p.Gln842Pro
NM_001362177.1:c.2162A>C	NP_001349106.1:p.Gln721Pro
XM_011518979.2:c.2525A>C	XP_011517281.1:p.Gln842Pro
XM_017015096.1:c.2525A>C	XP_016870585.1:p.Gln842Pro
XM_017015097.1:c.2525A>C	XP_016870586.1:p.Gln842Pro
XM_017015098.1:c.2522A>C	XP_016870587.1:p.Gln841Pro
XM_017015100.1:c.2162A>C	XP_016870589.1:p.Gln721Pro
XM_017015101.1:c.2159A>C	XP_016870590.1:p.Gln720Pro
NM_000368.5:c.2525A>C MANE Select	NP_000359.1:p.Gln842Pro
NM_001162426.2:c.2522A>C	NP_001155898.1:p.Gln841Pro
NM_001162427.2:c.2372A>C	NP_001155899.1:p.Gln791Pro
NM_001362177.2:c.2162A>C	NP_001349106.1:p.Gln721Pro