Canonical Allele Identifier: CA467812669

Gene: TSC1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.132897279C>T , CM000671.2:g.132897279C>T	GRCh38
NC_000009.11:g.135772666C>T , CM000671.1:g.135772666C>T	GRCh37
NC_000009.10:g.134762487C>T	NCBI36
NG_012386.1:g.52355G>A , LRG_486:g.52355G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000368.5:c.2880G>A MANE Select	NP_000359.1:p.Leu960=
ENST00000298552.9:c.2880G>A MANE Select	ENSP00000298552.3:p.Leu960=
NM_000368.4:c.2880G>A , LRG_486t1:c.2880G>A	NP_000359.1:p.Leu960=
NM_001162426.1:c.2877G>A	NP_001155898.1:p.Leu959=
NM_001162426.2:c.2877G>A	NP_001155898.1:p.Leu959=
NM_001162427.1:c.2727G>A	NP_001155899.1:p.Leu909=
NM_001162427.2:c.2727G>A	NP_001155899.1:p.Leu909=
NM_001362177.1:c.2517G>A	NP_001349106.1:p.Leu839=
NM_001362177.2:c.2517G>A	NP_001349106.1:p.Leu839=
ENST00000298552.7:c.2880G>A	ENSP00000298552.3:p.Leu960=
ENST00000440111.6:c.2880G>A	ENSP00000394524.2:p.Leu960=
ENST00000475903.7:c.2877G>A	ENSP00000496126.2:p.Leu959=
ENST00000490179.4:c.2880G>A	ENSP00000495533.2:p.Leu960=
ENST00000545250.5:c.2727G>A	ENSP00000444017.1:p.Leu909=
ENST00000642261.1:c.1017G>A
ENST00000642261.2:c.*736G>A	ENSP00000494743.2:n.*736G>A
ENST00000642617.1:c.2877G>A	ENSP00000493773.1:p.Leu959=
ENST00000642627.1:c.2862G>A	ENSP00000496772.1:p.Leu954=
ENST00000642811.1:c.*2650G>A	ENSP00000495554.1:n.*2650G>A
ENST00000643072.1:c.2727G>A	ENSP00000496691.1:p.Leu909=
ENST00000643275.1:c.1354G>A	ENSP00000495598.1:n.1354G>A
ENST00000643275.2:c.*820G>A	ENSP00000495598.2:n.*820G>A
ENST00000643362.2:c.2493G>A	ENSP00000496398.2:p.Leu831=
ENST00000643583.1:c.2865G>A	ENSP00000494685.1:p.Leu955=
ENST00000643625.1:c.757G>A	ENSP00000495546.1:n.757G>A
ENST00000643625.2:c.*622G>A	ENSP00000495546.2:n.*622G>A
ENST00000643691.2:c.2517G>A	ENSP00000494916.2:p.Leu839=
ENST00000643875.1:c.2880G>A	ENSP00000495158.1:p.Leu960=
ENST00000644097.1:c.2877G>A	ENSP00000494682.1:p.Leu959=
ENST00000644184.1:c.1575G>A	ENSP00000495428.1:p.Leu525=
ENST00000644184.2:c.2838G>A	ENSP00000495428.2:p.Leu946=
ENST00000644255.1:c.*2647G>A	ENSP00000493608.1:n.*2647G>A
ENST00000644319.1:n.3255G>A
ENST00000644786.1:n.539G>A
ENST00000644882.1:n.1788G>A
ENST00000645129.2:c.2724G>A	ENSP00000493639.2:p.Leu908=
ENST00000645901.1:n.3731G>A
ENST00000646391.1:c.*2650G>A	ENSP00000494104.1:n.*2650G>A
ENST00000646440.2:c.2880G>A	ENSP00000495830.2:p.Leu960=
ENST00000646625.1:c.2880G>A	ENSP00000496263.1:p.Leu960=
ENST00000647262.1:n.1845G>A
ENST00000647279.1:c.*2119G>A	ENSP00000494502.1:n.*2119G>A
ENST00000647534.1:n.1944G>A
XM_005272211.1:c.2880G>A	XP_005272268.1:p.Leu960=
XM_006717271.1:c.2880G>A	XP_006717334.1:p.Leu960=
XM_011518979.1:c.2880G>A	XP_011517281.1:p.Leu960=
XM_011518979.2:c.2880G>A	XP_011517281.1:p.Leu960=
XM_017015096.1:c.2880G>A	XP_016870585.1:p.Leu960=
XM_017015097.1:c.2880G>A	XP_016870586.1:p.Leu960=
XM_017015098.1:c.2877G>A	XP_016870587.1:p.Leu959=
XM_017015100.1:c.2517G>A	XP_016870589.1:p.Leu839=
XM_017015101.1:c.2514G>A	XP_016870590.1:p.Leu838=