Canonical Allele Identifier: CA375360120

Gene: TSC1

Linked Data

• ClinVar Variation Id: 499737
• ClinVar RCV Id: RCV000592666 ; RCV001387999 ; RCV003332210
• dbSNP Id: rs1554815054
• COSMIC: COSM4951071
• MyVariant Identifiers: chr9:g.135778168G>A (hg19) ; chr9:g.132902781G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.132902781G>A , CM000671.2:g.132902781G>A	GRCh38
NC_000009.11:g.135778168G>A , CM000671.1:g.135778168G>A	GRCh37
NC_000009.10:g.134767989G>A	NCBI36
NG_012386.1:g.46853C>T , LRG_486:g.46853C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475903.7:c.2212C>T	ENSP00000496126.2:p.Gln738Ter
ENST00000490179.4:c.2215C>T	ENSP00000495533.2:p.Gln739Ter
ENST00000642261.2:c.2211C>T	ENSP00000494743.2:p.Ile737=
ENST00000643275.2:c.*155C>T	ENSP00000495598.2:n.*155C>T
ENST00000643362.2:c.1828C>T	ENSP00000496398.2:p.Gln610Ter
ENST00000643625.2:c.2048C>T	ENSP00000495546.2:p.Ser683Leu
ENST00000643691.2:c.1852C>T	ENSP00000494916.2:p.Gln618Ter
ENST00000644184.2:c.2215C>T	ENSP00000495428.2:p.Gln739Ter
ENST00000645129.2:c.2059C>T	ENSP00000493639.2:p.Gln687Ter
ENST00000646440.2:c.2215C>T	ENSP00000495830.2:p.Gln739Ter
ENST00000298552.9:c.2215C>T MANE Select	ENSP00000298552.3:p.Gln739Ter
ENST00000642261.1:c.275C>T
ENST00000642617.1:c.2212C>T	ENSP00000493773.1:p.Gln738Ter
ENST00000642627.1:c.2197C>T	ENSP00000496772.1:p.Gln733Ter
ENST00000642811.1:c.*1985C>T	ENSP00000495554.1:n.*1985C>T
ENST00000643072.1:c.2062C>T	ENSP00000496691.1:p.Gln688Ter
ENST00000643275.1:c.689C>T	ENSP00000495598.1:n.689C>T
ENST00000643583.1:c.2200C>T	ENSP00000494685.1:p.Gln734Ter
ENST00000643625.1:c.92C>T	ENSP00000495546.1:p.Ser31Leu
ENST00000643875.1:c.2215C>T	ENSP00000495158.1:p.Gln739Ter
ENST00000644097.1:c.2212C>T	ENSP00000494682.1:p.Gln738Ter
ENST00000644184.1:c.952C>T	ENSP00000495428.1:p.Gln318Ter
ENST00000644255.1:c.*1982C>T	ENSP00000493608.1:n.*1982C>T
ENST00000644319.1:n.2590C>T
ENST00000644882.1:n.1170C>T
ENST00000645901.1:n.3066C>T
ENST00000646391.1:c.*1985C>T	ENSP00000494104.1:n.*1985C>T
ENST00000646625.1:c.2215C>T	ENSP00000496263.1:p.Gln739Ter
ENST00000647262.1:n.1180C>T
ENST00000647279.1:c.*1454C>T	ENSP00000494502.1:n.*1454C>T
ENST00000647506.1:n.3091C>T
ENST00000647534.1:n.1279C>T
ENST00000298552.7:c.2215C>T	ENSP00000298552.3:p.Gln739Ter
ENST00000440111.6:c.2215C>T	ENSP00000394524.2:p.Gln739Ter
ENST00000545250.5:c.2062C>T	ENSP00000444017.1:p.Gln688Ter
NM_000368.4:c.2215C>T , LRG_486t1:c.2215C>T	NP_000359.1:p.Gln739Ter
NM_001162426.1:c.2212C>T	NP_001155898.1:p.Gln738Ter
NM_001162427.1:c.2062C>T	NP_001155899.1:p.Gln688Ter
XM_005272211.1:c.2215C>T	XP_005272268.1:p.Gln739Ter
XM_006717271.1:c.2215C>T	XP_006717334.1:p.Gln739Ter
XM_011518979.1:c.2215C>T	XP_011517281.1:p.Gln739Ter
NM_001362177.1:c.1852C>T	NP_001349106.1:p.Gln618Ter
XM_011518979.2:c.2215C>T	XP_011517281.1:p.Gln739Ter
XM_017015096.1:c.2215C>T	XP_016870585.1:p.Gln739Ter
XM_017015097.1:c.2215C>T	XP_016870586.1:p.Gln739Ter
XM_017015098.1:c.2212C>T	XP_016870587.1:p.Gln738Ter
XM_017015100.1:c.1852C>T	XP_016870589.1:p.Gln618Ter
XM_017015101.1:c.1849C>T	XP_016870590.1:p.Gln617Ter
NM_000368.5:c.2215C>T MANE Select	NP_000359.1:p.Gln739Ter
NM_001162426.2:c.2212C>T	NP_001155898.1:p.Gln738Ter
NM_001162427.2:c.2062C>T	NP_001155899.1:p.Gln688Ter
NM_001362177.2:c.1852C>T	NP_001349106.1:p.Gln618Ter