Canonical Allele Identifier: CA467594475

Gene: TSC1

Linked Data

• MyVariant Identifiers: chr9:g.135776177C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.132900790C>T , CM000671.2:g.132900790C>T	GRCh38
NC_000009.11:g.135776177C>T , CM000671.1:g.135776177C>T	GRCh37
NC_000009.10:g.134765998C>T	NCBI36
NG_012386.1:g.48844G>A , LRG_486:g.48844G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475903.7:c.2547G>A	ENSP00000496126.2:p.Arg849=
ENST00000490179.4:c.2550G>A	ENSP00000495533.2:p.Arg850=
ENST00000642261.2:c.*329G>A	ENSP00000494743.2:n.*329G>A
ENST00000643275.2:c.*490G>A	ENSP00000495598.2:n.*490G>A
ENST00000643362.2:c.2163G>A	ENSP00000496398.2:p.Arg721=
ENST00000643625.2:c.*292G>A	ENSP00000495546.2:n.*292G>A
ENST00000643691.2:c.2187G>A	ENSP00000494916.2:p.Arg729=
ENST00000644184.2:c.2508G>A	ENSP00000495428.2:p.Arg836=
ENST00000645129.2:c.2394G>A	ENSP00000493639.2:p.Arg798=
ENST00000646440.2:c.2550G>A	ENSP00000495830.2:p.Arg850=
ENST00000298552.9:c.2550G>A MANE Select	ENSP00000298552.3:p.Arg850=
ENST00000642261.1:c.610G>A
ENST00000642617.1:c.2547G>A	ENSP00000493773.1:p.Arg849=
ENST00000642627.1:c.2532G>A	ENSP00000496772.1:p.Arg844=
ENST00000642811.1:c.*2320G>A	ENSP00000495554.1:n.*2320G>A
ENST00000643072.1:c.2397G>A	ENSP00000496691.1:p.Arg799=
ENST00000643275.1:c.1024G>A	ENSP00000495598.1:n.1024G>A
ENST00000643583.1:c.2535G>A	ENSP00000494685.1:p.Arg845=
ENST00000643625.1:c.427G>A	ENSP00000495546.1:n.427G>A
ENST00000643875.1:c.2550G>A	ENSP00000495158.1:p.Arg850=
ENST00000644097.1:c.2547G>A	ENSP00000494682.1:p.Arg849=
ENST00000644184.1:c.1245G>A	ENSP00000495428.1:p.Arg415=
ENST00000644255.1:c.*2317G>A	ENSP00000493608.1:n.*2317G>A
ENST00000644319.1:n.2925G>A
ENST00000644786.1:n.209G>A
ENST00000644882.1:n.1463G>A
ENST00000645901.1:n.3401G>A
ENST00000646391.1:c.*2320G>A	ENSP00000494104.1:n.*2320G>A
ENST00000646625.1:c.2550G>A	ENSP00000496263.1:p.Arg850=
ENST00000647262.1:n.1515G>A
ENST00000647279.1:c.*1789G>A	ENSP00000494502.1:n.*1789G>A
ENST00000647506.1:n.3426G>A
ENST00000647534.1:n.1614G>A
ENST00000298552.7:c.2550G>A	ENSP00000298552.3:p.Arg850=
ENST00000440111.6:c.2550G>A	ENSP00000394524.2:p.Arg850=
ENST00000545250.5:c.2397G>A	ENSP00000444017.1:p.Arg799=
NM_000368.4:c.2550G>A , LRG_486t1:c.2550G>A	NP_000359.1:p.Arg850=
NM_001162426.1:c.2547G>A	NP_001155898.1:p.Arg849=
NM_001162427.1:c.2397G>A	NP_001155899.1:p.Arg799=
XM_005272211.1:c.2550G>A	XP_005272268.1:p.Arg850=
XM_006717271.1:c.2550G>A	XP_006717334.1:p.Arg850=
XM_011518979.1:c.2550G>A	XP_011517281.1:p.Arg850=
NM_001362177.1:c.2187G>A	NP_001349106.1:p.Arg729=
XM_011518979.2:c.2550G>A	XP_011517281.1:p.Arg850=
XM_017015096.1:c.2550G>A	XP_016870585.1:p.Arg850=
XM_017015097.1:c.2550G>A	XP_016870586.1:p.Arg850=
XM_017015098.1:c.2547G>A	XP_016870587.1:p.Arg849=
XM_017015100.1:c.2187G>A	XP_016870589.1:p.Arg729=
XM_017015101.1:c.2184G>A	XP_016870590.1:p.Arg728=
NM_000368.5:c.2550G>A MANE Select	NP_000359.1:p.Arg850=
NM_001162426.2:c.2547G>A	NP_001155898.1:p.Arg849=
NM_001162427.2:c.2397G>A	NP_001155899.1:p.Arg799=
NM_001362177.2:c.2187G>A	NP_001349106.1:p.Arg729=