Canonical Allele Identifier: CA031994

Gene: TSC1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.132902742C>T , CM000671.2:g.132902742C>T	GRCh38
NC_000009.11:g.135778129C>T , CM000671.1:g.135778129C>T	GRCh37
NC_000009.10:g.134767950C>T	NCBI36
NG_012386.1:g.46892G>A , LRG_486:g.46892G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000368.5:c.2254G>A MANE Select	NP_000359.1:p.Val752Ile
ENST00000298552.9:c.2254G>A MANE Select	ENSP00000298552.3:p.Val752Ile
NM_000368.4:c.2254G>A , LRG_486t1:c.2254G>A	NP_000359.1:p.Val752Ile
NM_001162426.1:c.2251G>A	NP_001155898.1:p.Val751Ile
NM_001162426.2:c.2251G>A	NP_001155898.1:p.Val751Ile
NM_001162427.1:c.2101G>A	NP_001155899.1:p.Val701Ile
NM_001162427.2:c.2101G>A	NP_001155899.1:p.Val701Ile
NM_001362177.1:c.1891G>A	NP_001349106.1:p.Val631Ile
NM_001362177.2:c.1891G>A	NP_001349106.1:p.Val631Ile
ENST00000298552.7:c.2254G>A	ENSP00000298552.3:p.Val752Ile
ENST00000440111.6:c.2254G>A	ENSP00000394524.2:p.Val752Ile
ENST00000475903.7:c.2251G>A	ENSP00000496126.2:p.Val751Ile
ENST00000490179.4:c.2254G>A	ENSP00000495533.2:p.Val752Ile
ENST00000545250.5:c.2101G>A	ENSP00000444017.1:p.Val701Ile
ENST00000642261.1:c.314G>A
ENST00000642261.2:c.*33G>A	ENSP00000494743.2:n.*33G>A
ENST00000642617.1:c.2251G>A	ENSP00000493773.1:p.Val751Ile
ENST00000642627.1:c.2236G>A	ENSP00000496772.1:p.Val746Ile
ENST00000642811.1:c.*2024G>A	ENSP00000495554.1:n.*2024G>A
ENST00000643072.1:c.2101G>A	ENSP00000496691.1:p.Val701Ile
ENST00000643275.1:c.728G>A	ENSP00000495598.1:n.728G>A
ENST00000643275.2:c.*194G>A	ENSP00000495598.2:n.*194G>A
ENST00000643362.2:c.1867G>A	ENSP00000496398.2:p.Val623Ile
ENST00000643583.1:c.2239G>A	ENSP00000494685.1:p.Val747Ile
ENST00000643625.1:c.131G>A	ENSP00000495546.1:p.Gly44Asp
ENST00000643625.2:c.2087G>A	ENSP00000495546.2:p.Gly696Asp
ENST00000643691.2:c.1891G>A	ENSP00000494916.2:p.Val631Ile
ENST00000643875.1:c.2254G>A	ENSP00000495158.1:p.Val752Ile
ENST00000644097.1:c.2251G>A	ENSP00000494682.1:p.Val751Ile
ENST00000644184.1:c.991G>A	ENSP00000495428.1:p.Val331Ile
ENST00000644184.2:c.2254G>A	ENSP00000495428.2:p.Val752Ile
ENST00000644255.1:c.*2021G>A	ENSP00000493608.1:n.*2021G>A
ENST00000644319.1:n.2629G>A
ENST00000644882.1:n.1209G>A
ENST00000645129.2:c.2098G>A	ENSP00000493639.2:p.Val700Ile
ENST00000645901.1:n.3105G>A
ENST00000646391.1:c.*2024G>A	ENSP00000494104.1:n.*2024G>A
ENST00000646440.2:c.2254G>A	ENSP00000495830.2:p.Val752Ile
ENST00000646625.1:c.2254G>A	ENSP00000496263.1:p.Val752Ile
ENST00000647262.1:n.1219G>A
ENST00000647279.1:c.*1493G>A	ENSP00000494502.1:n.*1493G>A
ENST00000647506.1:n.3130G>A
ENST00000647534.1:n.1318G>A
XM_005272211.1:c.2254G>A	XP_005272268.1:p.Val752Ile
XM_006717271.1:c.2254G>A	XP_006717334.1:p.Val752Ile
XM_011518979.1:c.2254G>A	XP_011517281.1:p.Val752Ile
XM_011518979.2:c.2254G>A	XP_011517281.1:p.Val752Ile
XM_017015096.1:c.2254G>A	XP_016870585.1:p.Val752Ile
XM_017015097.1:c.2254G>A	XP_016870586.1:p.Val752Ile
XM_017015098.1:c.2251G>A	XP_016870587.1:p.Val751Ile
XM_017015100.1:c.1891G>A	XP_016870589.1:p.Val631Ile
XM_017015101.1:c.1888G>A	XP_016870590.1:p.Val630Ile