Canonical Allele Identifier: CA005272

Gene: TSC1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.132905852A>G , CM000671.2:g.132905852A>G	GRCh38
NC_000009.11:g.135781239A>G , CM000671.1:g.135781239A>G	GRCh37
NC_000009.10:g.134771060A>G	NCBI36
NG_012386.1:g.43782T>C , LRG_486:g.43782T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475903.7:c.1723T>C	ENSP00000496126.2:p.Leu575=
ENST00000490179.4:c.1726T>C	ENSP00000495533.2:p.Leu576=
ENST00000642261.2:c.1726T>C	ENSP00000494743.2:p.Leu576=
ENST00000643275.2:c.1726T>C	ENSP00000495598.2:p.Leu576=
ENST00000643362.2:c.1339T>C	ENSP00000496398.2:p.Leu447=
ENST00000643625.2:c.1726T>C	ENSP00000495546.2:p.Leu576=
ENST00000643691.2:c.1363T>C	ENSP00000494916.2:p.Leu455=
ENST00000644184.2:c.1726T>C	ENSP00000495428.2:p.Leu576=
ENST00000645129.2:c.1570T>C	ENSP00000493639.2:p.Leu524=
ENST00000646440.2:c.1726T>C	ENSP00000495830.2:p.Leu576=
ENST00000298552.9:c.1726T>C MANE Select	ENSP00000298552.3:p.Leu576=
ENST00000642617.1:c.1723T>C	ENSP00000493773.1:p.Leu575=
ENST00000642627.1:c.1723T>C	ENSP00000496772.1:p.Leu575=
ENST00000642811.1:c.*1496T>C	ENSP00000495554.1:n.*1496T>C
ENST00000643072.1:c.1573T>C	ENSP00000496691.1:p.Leu525=
ENST00000643275.1:c.244T>C	ENSP00000495598.1:p.Leu82=
ENST00000643583.1:c.1726T>C	ENSP00000494685.1:p.Leu576=
ENST00000643875.1:c.1726T>C	ENSP00000495158.1:p.Leu576=
ENST00000644097.1:c.1723T>C	ENSP00000494682.1:p.Leu575=
ENST00000644184.1:c.463T>C	ENSP00000495428.1:p.Leu155=
ENST00000644255.1:c.*1493T>C	ENSP00000493608.1:n.*1493T>C
ENST00000644319.1:n.2101T>C
ENST00000644882.1:n.681T>C
ENST00000645901.1:n.2577T>C
ENST00000646391.1:c.*1496T>C	ENSP00000494104.1:n.*1496T>C
ENST00000646625.1:c.1726T>C	ENSP00000496263.1:p.Leu576=
ENST00000647262.1:n.691T>C
ENST00000647279.1:c.*965T>C	ENSP00000494502.1:n.*965T>C
ENST00000647506.1:n.2602T>C
ENST00000647534.1:n.790T>C
ENST00000298552.7:c.1726T>C	ENSP00000298552.3:p.Leu576=
ENST00000440111.6:c.1726T>C	ENSP00000394524.2:p.Leu576=
ENST00000545250.5:c.1573T>C	ENSP00000444017.1:p.Leu525=
NM_000368.4:c.1726T>C , LRG_486t1:c.1726T>C	NP_000359.1:p.Leu576=
NM_001162426.1:c.1723T>C	NP_001155898.1:p.Leu575=
NM_001162427.1:c.1573T>C	NP_001155899.1:p.Leu525=
XM_005272211.1:c.1726T>C	XP_005272268.1:p.Leu576=
XM_006717271.1:c.1726T>C	XP_006717334.1:p.Leu576=
XM_006717272.2:c.1726T>C	XP_006717335.1:p.Leu576=
XM_011518979.1:c.1726T>C	XP_011517281.1:p.Leu576=
NM_001362177.1:c.1363T>C	NP_001349106.1:p.Leu455=
XM_011518979.2:c.1726T>C	XP_011517281.1:p.Leu576=
XM_017015096.1:c.1726T>C	XP_016870585.1:p.Leu576=
XM_017015097.1:c.1726T>C	XP_016870586.1:p.Leu576=
XM_017015098.1:c.1723T>C	XP_016870587.1:p.Leu575=
XM_017015100.1:c.1363T>C	XP_016870589.1:p.Leu455=
XM_017015101.1:c.1360T>C	XP_016870590.1:p.Leu454=
NM_000368.5:c.1726T>C MANE Select	NP_000359.1:p.Leu576=
NM_001162426.2:c.1723T>C	NP_001155898.1:p.Leu575=
NM_001162427.2:c.1573T>C	NP_001155899.1:p.Leu525=
NM_001362177.2:c.1363T>C	NP_001349106.1:p.Leu455=