Canonical Allele Identifier: CA375368839

Gene: TSC1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.132897295G>T , CM000671.2:g.132897295G>T	GRCh38
NC_000009.11:g.135772682G>T , CM000671.1:g.135772682G>T	GRCh37
NC_000009.10:g.134762503G>T	NCBI36
NG_012386.1:g.52339C>A , LRG_486:g.52339C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000368.5:c.2864C>A MANE Select	NP_000359.1:p.Thr955Asn
ENST00000298552.9:c.2864C>A MANE Select	ENSP00000298552.3:p.Thr955Asn
NM_000368.4:c.2864C>A , LRG_486t1:c.2864C>A	NP_000359.1:p.Thr955Asn
NM_001162426.1:c.2861C>A	NP_001155898.1:p.Thr954Asn
NM_001162426.2:c.2861C>A	NP_001155898.1:p.Thr954Asn
NM_001162427.1:c.2711C>A	NP_001155899.1:p.Thr904Asn
NM_001162427.2:c.2711C>A	NP_001155899.1:p.Thr904Asn
NM_001362177.1:c.2501C>A	NP_001349106.1:p.Thr834Asn
NM_001362177.2:c.2501C>A	NP_001349106.1:p.Thr834Asn
ENST00000298552.7:c.2864C>A	ENSP00000298552.3:p.Thr955Asn
ENST00000440111.6:c.2864C>A	ENSP00000394524.2:p.Thr955Asn
ENST00000475903.7:c.2861C>A	ENSP00000496126.2:p.Thr954Asn
ENST00000490179.4:c.2864C>A	ENSP00000495533.2:p.Thr955Asn
ENST00000545250.5:c.2711C>A	ENSP00000444017.1:p.Thr904Asn
ENST00000642261.1:c.1001C>A
ENST00000642261.2:c.*720C>A	ENSP00000494743.2:n.*720C>A
ENST00000642617.1:c.2861C>A	ENSP00000493773.1:p.Thr954Asn
ENST00000642627.1:c.2846C>A	ENSP00000496772.1:p.Thr949Asn
ENST00000642811.1:c.*2634C>A	ENSP00000495554.1:n.*2634C>A
ENST00000643072.1:c.2711C>A	ENSP00000496691.1:p.Thr904Asn
ENST00000643275.1:c.1338C>A	ENSP00000495598.1:n.1338C>A
ENST00000643275.2:c.*804C>A	ENSP00000495598.2:n.*804C>A
ENST00000643362.2:c.2477C>A	ENSP00000496398.2:p.Thr826Asn
ENST00000643583.1:c.2849C>A	ENSP00000494685.1:p.Thr950Asn
ENST00000643625.1:c.741C>A	ENSP00000495546.1:n.741C>A
ENST00000643625.2:c.*606C>A	ENSP00000495546.2:n.*606C>A
ENST00000643691.2:c.2501C>A	ENSP00000494916.2:p.Thr834Asn
ENST00000643875.1:c.2864C>A	ENSP00000495158.1:p.Thr955Asn
ENST00000644097.1:c.2861C>A	ENSP00000494682.1:p.Thr954Asn
ENST00000644184.1:c.1559C>A	ENSP00000495428.1:p.Thr520Asn
ENST00000644184.2:c.2822C>A	ENSP00000495428.2:p.Thr941Asn
ENST00000644255.1:c.*2631C>A	ENSP00000493608.1:n.*2631C>A
ENST00000644319.1:n.3239C>A
ENST00000644786.1:n.523C>A
ENST00000644882.1:n.1772C>A
ENST00000645129.2:c.2708C>A	ENSP00000493639.2:p.Thr903Asn
ENST00000645901.1:n.3715C>A
ENST00000646391.1:c.*2634C>A	ENSP00000494104.1:n.*2634C>A
ENST00000646440.2:c.2864C>A	ENSP00000495830.2:p.Thr955Asn
ENST00000646625.1:c.2864C>A	ENSP00000496263.1:p.Thr955Asn
ENST00000647262.1:n.1829C>A
ENST00000647279.1:c.*2103C>A	ENSP00000494502.1:n.*2103C>A
ENST00000647534.1:n.1928C>A
XM_005272211.1:c.2864C>A	XP_005272268.1:p.Thr955Asn
XM_006717271.1:c.2864C>A	XP_006717334.1:p.Thr955Asn
XM_011518979.1:c.2864C>A	XP_011517281.1:p.Thr955Asn
XM_011518979.2:c.2864C>A	XP_011517281.1:p.Thr955Asn
XM_017015096.1:c.2864C>A	XP_016870585.1:p.Thr955Asn
XM_017015097.1:c.2864C>A	XP_016870586.1:p.Thr955Asn
XM_017015098.1:c.2861C>A	XP_016870587.1:p.Thr954Asn
XM_017015100.1:c.2501C>A	XP_016870589.1:p.Thr834Asn
XM_017015101.1:c.2498C>A	XP_016870590.1:p.Thr833Asn