Canonical Allele Identifier: CA036855

Gene: TSC1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.132896313G>T , CM000671.2:g.132896313G>T	GRCh38
NC_000009.11:g.135771700G>T , CM000671.1:g.135771700G>T	GRCh37
NC_000009.10:g.134761521G>T	NCBI36
NG_012386.1:g.53321C>A , LRG_486:g.53321C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000368.5:c.3417C>A MANE Select	NP_000359.1:p.His1139Gln
ENST00000298552.9:c.3417C>A MANE Select	ENSP00000298552.3:p.His1139Gln
NM_000368.4:c.3417C>A , LRG_486t1:c.3417C>A	NP_000359.1:p.His1139Gln
NM_001162426.1:c.3414C>A	NP_001155898.1:p.His1138Gln
NM_001162426.2:c.3414C>A	NP_001155898.1:p.His1138Gln
NM_001162427.1:c.3264C>A	NP_001155899.1:p.His1088Gln
NM_001162427.2:c.3264C>A	NP_001155899.1:p.His1088Gln
NM_001362177.1:c.3054C>A	NP_001349106.1:p.His1018Gln
NM_001362177.2:c.3054C>A	NP_001349106.1:p.His1018Gln
ENST00000298552.7:c.3417C>A	ENSP00000298552.3:p.His1139Gln
ENST00000440111.6:c.3417C>A	ENSP00000394524.2:p.His1139Gln
ENST00000475903.7:c.3414C>A	ENSP00000496126.2:p.His1138Gln
ENST00000490179.4:c.3417C>A	ENSP00000495533.2:p.His1139Gln
ENST00000545250.5:c.3264C>A	ENSP00000444017.1:p.His1088Gln
ENST00000642261.2:c.*1273C>A	ENSP00000494743.2:n.*1273C>A
ENST00000642617.1:c.3414C>A	ENSP00000493773.1:p.His1138Gln
ENST00000642627.1:c.3399C>A	ENSP00000496772.1:p.His1133Gln
ENST00000642811.1:c.*3187C>A	ENSP00000495554.1:n.*3187C>A
ENST00000643072.1:c.3264C>A	ENSP00000496691.1:p.His1088Gln
ENST00000643275.2:c.*1357C>A	ENSP00000495598.2:n.*1357C>A
ENST00000643362.2:c.3030C>A	ENSP00000496398.2:p.His1010Gln
ENST00000643583.1:c.3402C>A	ENSP00000494685.1:p.His1134Gln
ENST00000643625.1:c.1294C>A	ENSP00000495546.1:n.1294C>A
ENST00000643625.2:c.*1159C>A	ENSP00000495546.2:n.*1159C>A
ENST00000643691.2:c.3054C>A	ENSP00000494916.2:p.His1018Gln
ENST00000643875.1:c.3417C>A	ENSP00000495158.1:p.His1139Gln
ENST00000644097.1:c.3414C>A	ENSP00000494682.1:p.His1138Gln
ENST00000644184.1:c.2112C>A	ENSP00000495428.1:p.His704Gln
ENST00000644184.2:c.3375C>A	ENSP00000495428.2:p.His1125Gln
ENST00000644255.1:c.*3184C>A	ENSP00000493608.1:n.*3184C>A
ENST00000644319.1:n.3792C>A
ENST00000644786.1:n.1076C>A
ENST00000644882.1:n.2325C>A
ENST00000645129.2:c.3261C>A	ENSP00000493639.2:p.His1087Gln
ENST00000645901.1:n.4268C>A
ENST00000646391.1:c.*3187C>A	ENSP00000494104.1:n.*3187C>A
ENST00000646440.2:c.3417C>A	ENSP00000495830.2:p.His1139Gln
ENST00000646625.1:c.3417C>A	ENSP00000496263.1:p.His1139Gln
ENST00000647262.1:n.2382C>A
ENST00000647279.1:c.*2656C>A	ENSP00000494502.1:n.*2656C>A
ENST00000647534.1:n.2481C>A
XM_005272211.1:c.3417C>A	XP_005272268.1:p.His1139Gln
XM_006717271.1:c.3417C>A	XP_006717334.1:p.His1139Gln
XM_011518979.1:c.3417C>A	XP_011517281.1:p.His1139Gln
XM_011518979.2:c.3417C>A	XP_011517281.1:p.His1139Gln
XM_017015096.1:c.3417C>A	XP_016870585.1:p.His1139Gln
XM_017015097.1:c.3417C>A	XP_016870586.1:p.His1139Gln
XM_017015098.1:c.3414C>A	XP_016870587.1:p.His1138Gln
XM_017015100.1:c.3054C>A	XP_016870589.1:p.His1018Gln
XM_017015101.1:c.3051C>A	XP_016870590.1:p.His1017Gln