Canonical Allele Identifier: CA375369652

Gene: TSC1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.132897592C>T , CM000671.2:g.132897592C>T	GRCh38
NC_000009.11:g.135772979C>T , CM000671.1:g.135772979C>T	GRCh37
NC_000009.10:g.134762800C>T	NCBI36
NG_012386.1:g.52042G>A , LRG_486:g.52042G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000368.5:c.2644G>A MANE Select	NP_000359.1:p.Ala882Thr
ENST00000298552.9:c.2644G>A MANE Select	ENSP00000298552.3:p.Ala882Thr
NM_000368.4:c.2644G>A , LRG_486t1:c.2644G>A	NP_000359.1:p.Ala882Thr
NM_001162426.1:c.2641G>A	NP_001155898.1:p.Ala881Thr
NM_001162426.2:c.2641G>A	NP_001155898.1:p.Ala881Thr
NM_001162427.1:c.2491G>A	NP_001155899.1:p.Ala831Thr
NM_001162427.2:c.2491G>A	NP_001155899.1:p.Ala831Thr
NM_001362177.1:c.2281G>A	NP_001349106.1:p.Ala761Thr
NM_001362177.2:c.2281G>A	NP_001349106.1:p.Ala761Thr
ENST00000298552.7:c.2644G>A	ENSP00000298552.3:p.Ala882Thr
ENST00000440111.6:c.2644G>A	ENSP00000394524.2:p.Ala882Thr
ENST00000475903.7:c.2641G>A	ENSP00000496126.2:p.Ala881Thr
ENST00000490179.4:c.2644G>A	ENSP00000495533.2:p.Ala882Thr
ENST00000545250.5:c.2491G>A	ENSP00000444017.1:p.Ala831Thr
ENST00000642261.1:c.704G>A
ENST00000642261.2:c.*423G>A	ENSP00000494743.2:n.*423G>A
ENST00000642617.1:c.2641G>A	ENSP00000493773.1:p.Ala881Thr
ENST00000642627.1:c.2626G>A	ENSP00000496772.1:p.Ala876Thr
ENST00000642811.1:c.*2414G>A	ENSP00000495554.1:n.*2414G>A
ENST00000643072.1:c.2491G>A	ENSP00000496691.1:p.Ala831Thr
ENST00000643275.1:c.1118G>A	ENSP00000495598.1:n.1118G>A
ENST00000643275.2:c.*584G>A	ENSP00000495598.2:n.*584G>A
ENST00000643362.2:c.2257G>A	ENSP00000496398.2:p.Ala753Thr
ENST00000643583.1:c.2629G>A	ENSP00000494685.1:p.Ala877Thr
ENST00000643625.1:c.521G>A	ENSP00000495546.1:n.521G>A
ENST00000643625.2:c.*386G>A	ENSP00000495546.2:n.*386G>A
ENST00000643691.2:c.2281G>A	ENSP00000494916.2:p.Ala761Thr
ENST00000643875.1:c.2644G>A	ENSP00000495158.1:p.Ala882Thr
ENST00000644097.1:c.2641G>A	ENSP00000494682.1:p.Ala881Thr
ENST00000644184.1:c.1339G>A	ENSP00000495428.1:p.Ala447Thr
ENST00000644184.2:c.2602G>A	ENSP00000495428.2:p.Ala868Thr
ENST00000644255.1:c.*2411G>A	ENSP00000493608.1:n.*2411G>A
ENST00000644319.1:n.3019G>A
ENST00000644786.1:n.303G>A
ENST00000644882.1:n.1557G>A
ENST00000645129.2:c.2488G>A	ENSP00000493639.2:p.Ala830Thr
ENST00000645901.1:n.3495G>A
ENST00000646391.1:c.*2414G>A	ENSP00000494104.1:n.*2414G>A
ENST00000646440.2:c.2644G>A	ENSP00000495830.2:p.Ala882Thr
ENST00000646625.1:c.2644G>A	ENSP00000496263.1:p.Ala882Thr
ENST00000647262.1:n.1609G>A
ENST00000647279.1:c.*1883G>A	ENSP00000494502.1:n.*1883G>A
ENST00000647534.1:n.1708G>A
XM_005272211.1:c.2644G>A	XP_005272268.1:p.Ala882Thr
XM_006717271.1:c.2644G>A	XP_006717334.1:p.Ala882Thr
XM_011518979.1:c.2644G>A	XP_011517281.1:p.Ala882Thr
XM_011518979.2:c.2644G>A	XP_011517281.1:p.Ala882Thr
XM_017015096.1:c.2644G>A	XP_016870585.1:p.Ala882Thr
XM_017015097.1:c.2644G>A	XP_016870586.1:p.Ala882Thr
XM_017015098.1:c.2641G>A	XP_016870587.1:p.Ala881Thr
XM_017015100.1:c.2281G>A	XP_016870589.1:p.Ala761Thr
XM_017015101.1:c.2278G>A	XP_016870590.1:p.Ala760Thr