Canonical Allele Identifier: CA1882401840

Gene: TSC1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.132897595T= , CM000671.2:g.132897595T=	GRCh38
NC_000009.11:g.135772982T= , CM000671.1:g.135772982T=	GRCh37
NC_000009.10:g.134762803T=	NCBI36
NG_012386.1:g.52039A= , LRG_486:g.52039A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475903.7:c.2638A=	ENSP00000496126.2:p.Lys880=
ENST00000490179.4:c.2641A=	ENSP00000495533.2:p.Lys881=
ENST00000642261.2:c.*420A=	ENSP00000494743.2:n.*420A=
ENST00000643275.2:c.*581A=	ENSP00000495598.2:n.*581A=
ENST00000643362.2:c.2254A=	ENSP00000496398.2:p.Lys752=
ENST00000643625.2:c.*383A=	ENSP00000495546.2:n.*383A=
ENST00000643691.2:c.2278A=	ENSP00000494916.2:p.Lys760=
ENST00000644184.2:c.2599A=	ENSP00000495428.2:p.Lys867=
ENST00000645129.2:c.2485A=	ENSP00000493639.2:p.Lys829=
ENST00000646440.2:c.2641A=	ENSP00000495830.2:p.Lys881=
ENST00000298552.9:c.2641A= MANE Select	ENSP00000298552.3:p.Lys881=
ENST00000642261.1:c.701A=
ENST00000642617.1:c.2638A=	ENSP00000493773.1:p.Lys880=
ENST00000642627.1:c.2623A=	ENSP00000496772.1:p.Lys875=
ENST00000642811.1:c.*2411A=	ENSP00000495554.1:n.*2411A=
ENST00000643072.1:c.2488A=	ENSP00000496691.1:p.Lys830=
ENST00000643275.1:c.1115A=	ENSP00000495598.1:n.1115A=
ENST00000643583.1:c.2626A=	ENSP00000494685.1:p.Lys876=
ENST00000643625.1:c.518A=	ENSP00000495546.1:n.518A=
ENST00000643875.1:c.2641A=	ENSP00000495158.1:p.Lys881=
ENST00000644097.1:c.2638A=	ENSP00000494682.1:p.Lys880=
ENST00000644184.1:c.1336A=	ENSP00000495428.1:p.Lys446=
ENST00000644255.1:c.*2408A=	ENSP00000493608.1:n.*2408A=
ENST00000644319.1:n.3016A=
ENST00000644786.1:n.300A=
ENST00000644882.1:n.1554A=
ENST00000645901.1:n.3492A=
ENST00000646391.1:c.*2411A=	ENSP00000494104.1:n.*2411A=
ENST00000646625.1:c.2641A=	ENSP00000496263.1:p.Lys881=
ENST00000647262.1:n.1606A=
ENST00000647279.1:c.*1880A=	ENSP00000494502.1:n.*1880A=
ENST00000647534.1:n.1705A=
ENST00000298552.7:c.2641A=	ENSP00000298552.3:p.Lys881=
ENST00000440111.6:c.2641A=	ENSP00000394524.2:p.Lys881=
ENST00000545250.5:c.2488A=	ENSP00000444017.1:p.Lys830=
NM_000368.4:c.2641A= , LRG_486t1:c.2641A=	NP_000359.1:p.Lys881=
NM_001162426.1:c.2638A=	NP_001155898.1:p.Lys880=
NM_001162427.1:c.2488A=	NP_001155899.1:p.Lys830=
XM_005272211.1:c.2641A=	XP_005272268.1:p.Lys881=
XM_006717271.1:c.2641A=	XP_006717334.1:p.Lys881=
XM_011518979.1:c.2641A=	XP_011517281.1:p.Lys881=
NM_001362177.1:c.2278A=	NP_001349106.1:p.Lys760=
XM_011518979.2:c.2641A=	XP_011517281.1:p.Lys881=
XM_017015096.1:c.2641A=	XP_016870585.1:p.Lys881=
XM_017015097.1:c.2641A=	XP_016870586.1:p.Lys881=
XM_017015098.1:c.2638A=	XP_016870587.1:p.Lys880=
XM_017015100.1:c.2278A=	XP_016870589.1:p.Lys760=
XM_017015101.1:c.2275A=	XP_016870590.1:p.Lys759=
NM_000368.5:c.2641A= MANE Select	NP_000359.1:p.Lys881=
NM_001162426.2:c.2638A=	NP_001155898.1:p.Lys880=
NM_001162427.2:c.2488A=	NP_001155899.1:p.Lys830=
NM_001362177.2:c.2278A=	NP_001349106.1:p.Lys760=