Canonical Allele Identifier: CA006332

Gene: TSC1

Linked Data

• ClinVar Variation Id: 48942
• ClinVar RCV Id: RCV000042193 ; RCV001199390
• dbSNP Id: rs118203681
• MyVariant Identifiers: chr9:g.135778036G>A (hg19) ; chr9:g.132902649G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.132902649G>A , CM000671.2:g.132902649G>A	GRCh38
NC_000009.11:g.135778036G>A , CM000671.1:g.135778036G>A	GRCh37
NC_000009.10:g.134767857G>A	NCBI36
NG_012386.1:g.46985C>T , LRG_486:g.46985C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475903.7:c.2344C>T	ENSP00000496126.2:p.Gln782Ter
ENST00000490179.4:c.2347C>T	ENSP00000495533.2:p.Gln783Ter
ENST00000642261.2:c.*126C>T	ENSP00000494743.2:n.*126C>T
ENST00000643275.2:c.*287C>T	ENSP00000495598.2:n.*287C>T
ENST00000643362.2:c.1960C>T	ENSP00000496398.2:p.Gln654Ter
ENST00000643625.2:c.*89C>T	ENSP00000495546.2:n.*89C>T
ENST00000643691.2:c.1984C>T	ENSP00000494916.2:p.Gln662Ter
ENST00000644184.2:c.2347C>T	ENSP00000495428.2:p.Gln783Ter
ENST00000645129.2:c.2191C>T	ENSP00000493639.2:p.Gln731Ter
ENST00000646440.2:c.2347C>T	ENSP00000495830.2:p.Gln783Ter
ENST00000298552.9:c.2347C>T MANE Select	ENSP00000298552.3:p.Gln783Ter
ENST00000642261.1:c.407C>T
ENST00000642617.1:c.2344C>T	ENSP00000493773.1:p.Gln782Ter
ENST00000642627.1:c.2329C>T	ENSP00000496772.1:p.Gln777Ter
ENST00000642811.1:c.*2117C>T	ENSP00000495554.1:n.*2117C>T
ENST00000643072.1:c.2194C>T	ENSP00000496691.1:p.Gln732Ter
ENST00000643275.1:c.821C>T	ENSP00000495598.1:n.821C>T
ENST00000643583.1:c.2332C>T	ENSP00000494685.1:p.Gln778Ter
ENST00000643625.1:c.224C>T	ENSP00000495546.1:n.224C>T
ENST00000643875.1:c.2347C>T	ENSP00000495158.1:p.Gln783Ter
ENST00000644097.1:c.2344C>T	ENSP00000494682.1:p.Gln782Ter
ENST00000644184.1:c.1084C>T	ENSP00000495428.1:p.Gln362Ter
ENST00000644255.1:c.*2114C>T	ENSP00000493608.1:n.*2114C>T
ENST00000644319.1:n.2722C>T
ENST00000644882.1:n.1302C>T
ENST00000645901.1:n.3198C>T
ENST00000646391.1:c.*2117C>T	ENSP00000494104.1:n.*2117C>T
ENST00000646625.1:c.2347C>T	ENSP00000496263.1:p.Gln783Ter
ENST00000647262.1:n.1312C>T
ENST00000647279.1:c.*1586C>T	ENSP00000494502.1:n.*1586C>T
ENST00000647506.1:n.3223C>T
ENST00000647534.1:n.1411C>T
ENST00000298552.7:c.2347C>T	ENSP00000298552.3:p.Gln783Ter
ENST00000440111.6:c.2347C>T	ENSP00000394524.2:p.Gln783Ter
ENST00000545250.5:c.2194C>T	ENSP00000444017.1:p.Gln732Ter
NM_000368.4:c.2347C>T , LRG_486t1:c.2347C>T	NP_000359.1:p.Gln783Ter
NM_001162426.1:c.2344C>T	NP_001155898.1:p.Gln782Ter
NM_001162427.1:c.2194C>T	NP_001155899.1:p.Gln732Ter
XM_005272211.1:c.2347C>T	XP_005272268.1:p.Gln783Ter
XM_006717271.1:c.2347C>T	XP_006717334.1:p.Gln783Ter
XM_011518979.1:c.2347C>T	XP_011517281.1:p.Gln783Ter
NM_001362177.1:c.1984C>T	NP_001349106.1:p.Gln662Ter
XM_011518979.2:c.2347C>T	XP_011517281.1:p.Gln783Ter
XM_017015096.1:c.2347C>T	XP_016870585.1:p.Gln783Ter
XM_017015097.1:c.2347C>T	XP_016870586.1:p.Gln783Ter
XM_017015098.1:c.2344C>T	XP_016870587.1:p.Gln782Ter
XM_017015100.1:c.1984C>T	XP_016870589.1:p.Gln662Ter
XM_017015101.1:c.1981C>T	XP_016870590.1:p.Gln661Ter
NM_000368.5:c.2347C>T MANE Select	NP_000359.1:p.Gln783Ter
NM_001162426.2:c.2344C>T	NP_001155898.1:p.Gln782Ter
NM_001162427.2:c.2194C>T	NP_001155899.1:p.Gln732Ter
NM_001362177.2:c.1984C>T	NP_001349106.1:p.Gln662Ter