Canonical Allele Identifier: CA375359967

Gene: TSC1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.132902756A>G , CM000671.2:g.132902756A>G	GRCh38
NC_000009.11:g.135778143A>G , CM000671.1:g.135778143A>G	GRCh37
NC_000009.10:g.134767964A>G	NCBI36
NG_012386.1:g.46878T>C , LRG_486:g.46878T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000368.5:c.2240T>C MANE Select	NP_000359.1:p.Ile747Thr
ENST00000298552.9:c.2240T>C MANE Select	ENSP00000298552.3:p.Ile747Thr
NM_000368.4:c.2240T>C , LRG_486t1:c.2240T>C	NP_000359.1:p.Ile747Thr
NM_001162426.1:c.2237T>C	NP_001155898.1:p.Ile746Thr
NM_001162426.2:c.2237T>C	NP_001155898.1:p.Ile746Thr
NM_001162427.1:c.2087T>C	NP_001155899.1:p.Ile696Thr
NM_001162427.2:c.2087T>C	NP_001155899.1:p.Ile696Thr
NM_001362177.1:c.1877T>C	NP_001349106.1:p.Ile626Thr
NM_001362177.2:c.1877T>C	NP_001349106.1:p.Ile626Thr
ENST00000298552.7:c.2240T>C	ENSP00000298552.3:p.Ile747Thr
ENST00000440111.6:c.2240T>C	ENSP00000394524.2:p.Ile747Thr
ENST00000475903.7:c.2237T>C	ENSP00000496126.2:p.Ile746Thr
ENST00000490179.4:c.2240T>C	ENSP00000495533.2:p.Ile747Thr
ENST00000545250.5:c.2087T>C	ENSP00000444017.1:p.Ile696Thr
ENST00000642261.1:c.300T>C
ENST00000642261.2:c.*19T>C	ENSP00000494743.2:n.*19T>C
ENST00000642617.1:c.2237T>C	ENSP00000493773.1:p.Ile746Thr
ENST00000642627.1:c.2222T>C	ENSP00000496772.1:p.Ile741Thr
ENST00000642811.1:c.*2010T>C	ENSP00000495554.1:n.*2010T>C
ENST00000643072.1:c.2087T>C	ENSP00000496691.1:p.Ile696Thr
ENST00000643275.1:c.714T>C	ENSP00000495598.1:n.714T>C
ENST00000643275.2:c.*180T>C	ENSP00000495598.2:n.*180T>C
ENST00000643362.2:c.1853T>C	ENSP00000496398.2:p.Ile618Thr
ENST00000643583.1:c.2225T>C	ENSP00000494685.1:p.Ile742Thr
ENST00000643625.1:c.117T>C	ENSP00000495546.1:p.His39=
ENST00000643625.2:c.2073T>C	ENSP00000495546.2:p.His691=
ENST00000643691.2:c.1877T>C	ENSP00000494916.2:p.Ile626Thr
ENST00000643875.1:c.2240T>C	ENSP00000495158.1:p.Ile747Thr
ENST00000644097.1:c.2237T>C	ENSP00000494682.1:p.Ile746Thr
ENST00000644184.1:c.977T>C	ENSP00000495428.1:p.Ile326Thr
ENST00000644184.2:c.2240T>C	ENSP00000495428.2:p.Ile747Thr
ENST00000644255.1:c.*2007T>C	ENSP00000493608.1:n.*2007T>C
ENST00000644319.1:n.2615T>C
ENST00000644882.1:n.1195T>C
ENST00000645129.2:c.2084T>C	ENSP00000493639.2:p.Ile695Thr
ENST00000645901.1:n.3091T>C
ENST00000646391.1:c.*2010T>C	ENSP00000494104.1:n.*2010T>C
ENST00000646440.2:c.2240T>C	ENSP00000495830.2:p.Ile747Thr
ENST00000646625.1:c.2240T>C	ENSP00000496263.1:p.Ile747Thr
ENST00000647262.1:n.1205T>C
ENST00000647279.1:c.*1479T>C	ENSP00000494502.1:n.*1479T>C
ENST00000647506.1:n.3116T>C
ENST00000647534.1:n.1304T>C
XM_005272211.1:c.2240T>C	XP_005272268.1:p.Ile747Thr
XM_006717271.1:c.2240T>C	XP_006717334.1:p.Ile747Thr
XM_011518979.1:c.2240T>C	XP_011517281.1:p.Ile747Thr
XM_011518979.2:c.2240T>C	XP_011517281.1:p.Ile747Thr
XM_017015096.1:c.2240T>C	XP_016870585.1:p.Ile747Thr
XM_017015097.1:c.2240T>C	XP_016870586.1:p.Ile747Thr
XM_017015098.1:c.2237T>C	XP_016870587.1:p.Ile746Thr
XM_017015100.1:c.1877T>C	XP_016870589.1:p.Ile626Thr
XM_017015101.1:c.1874T>C	XP_016870590.1:p.Ile625Thr