Canonical Allele Identifier: CA007323

Gene: TSC1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.132896406G>A , CM000671.2:g.132896406G>A	GRCh38
NC_000009.11:g.135771793G>A , CM000671.1:g.135771793G>A	GRCh37
NC_000009.10:g.134761614G>A	NCBI36
NG_012386.1:g.53228C>T , LRG_486:g.53228C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475903.7:c.3321C>T	ENSP00000496126.2:p.Gly1107=
ENST00000490179.4:c.3324C>T	ENSP00000495533.2:p.Gly1108=
ENST00000642261.2:c.*1180C>T	ENSP00000494743.2:n.*1180C>T
ENST00000643275.2:c.*1264C>T	ENSP00000495598.2:n.*1264C>T
ENST00000643362.2:c.2937C>T	ENSP00000496398.2:p.Gly979=
ENST00000643625.2:c.*1066C>T	ENSP00000495546.2:n.*1066C>T
ENST00000643691.2:c.2961C>T	ENSP00000494916.2:p.Gly987=
ENST00000644184.2:c.3282C>T	ENSP00000495428.2:p.Gly1094=
ENST00000645129.2:c.3168C>T	ENSP00000493639.2:p.Gly1056=
ENST00000646440.2:c.3324C>T	ENSP00000495830.2:p.Gly1108=
ENST00000298552.9:c.3324C>T MANE Select	ENSP00000298552.3:p.Gly1108=
ENST00000642617.1:c.3321C>T	ENSP00000493773.1:p.Gly1107=
ENST00000642627.1:c.3306C>T	ENSP00000496772.1:p.Gly1102=
ENST00000642811.1:c.*3094C>T	ENSP00000495554.1:n.*3094C>T
ENST00000643072.1:c.3171C>T	ENSP00000496691.1:p.Gly1057=
ENST00000643583.1:c.3309C>T	ENSP00000494685.1:p.Gly1103=
ENST00000643625.1:c.1201C>T	ENSP00000495546.1:n.1201C>T
ENST00000643875.1:c.3324C>T	ENSP00000495158.1:p.Gly1108=
ENST00000644097.1:c.3321C>T	ENSP00000494682.1:p.Gly1107=
ENST00000644184.1:c.2019C>T	ENSP00000495428.1:p.Gly673=
ENST00000644255.1:c.*3091C>T	ENSP00000493608.1:n.*3091C>T
ENST00000644319.1:n.3699C>T
ENST00000644786.1:n.983C>T
ENST00000644882.1:n.2232C>T
ENST00000645901.1:n.4175C>T
ENST00000646391.1:c.*3094C>T	ENSP00000494104.1:n.*3094C>T
ENST00000646625.1:c.3324C>T	ENSP00000496263.1:p.Gly1108=
ENST00000647262.1:n.2289C>T
ENST00000647279.1:c.*2563C>T	ENSP00000494502.1:n.*2563C>T
ENST00000647534.1:n.2388C>T
ENST00000298552.7:c.3324C>T	ENSP00000298552.3:p.Gly1108=
ENST00000440111.6:c.3324C>T	ENSP00000394524.2:p.Gly1108=
ENST00000545250.5:c.3171C>T	ENSP00000444017.1:p.Gly1057=
NM_000368.4:c.3324C>T , LRG_486t1:c.3324C>T	NP_000359.1:p.Gly1108=
NM_001162426.1:c.3321C>T	NP_001155898.1:p.Gly1107=
NM_001162427.1:c.3171C>T	NP_001155899.1:p.Gly1057=
XM_005272211.1:c.3324C>T	XP_005272268.1:p.Gly1108=
XM_006717271.1:c.3324C>T	XP_006717334.1:p.Gly1108=
XM_011518979.1:c.3324C>T	XP_011517281.1:p.Gly1108=
NM_001362177.1:c.2961C>T	NP_001349106.1:p.Gly987=
XM_011518979.2:c.3324C>T	XP_011517281.1:p.Gly1108=
XM_017015096.1:c.3324C>T	XP_016870585.1:p.Gly1108=
XM_017015097.1:c.3324C>T	XP_016870586.1:p.Gly1108=
XM_017015098.1:c.3321C>T	XP_016870587.1:p.Gly1107=
XM_017015100.1:c.2961C>T	XP_016870589.1:p.Gly987=
XM_017015101.1:c.2958C>T	XP_016870590.1:p.Gly986=
NM_000368.5:c.3324C>T MANE Select	NP_000359.1:p.Gly1108=
NM_001162426.2:c.3321C>T	NP_001155898.1:p.Gly1107=
NM_001162427.2:c.3171C>T	NP_001155899.1:p.Gly1057=
NM_001362177.2:c.2961C>T	NP_001349106.1:p.Gly987=