Canonical Allele Identifier: CA467590667

Gene: TSC1

Linked Data

• ClinVar Variation Id: 751963
• ClinVar RCV Id: RCV001428342
• dbSNP Id: rs1588303703
• MyVariant Identifiers: chr9:g.135779065T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.132903678T>C , CM000671.2:g.132903678T>C	GRCh38
NC_000009.11:g.135779065T>C , CM000671.1:g.135779065T>C	GRCh37
NC_000009.10:g.134768886T>C	NCBI36
NG_012386.1:g.45956A>G , LRG_486:g.45956A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475903.7:c.2178A>G	ENSP00000496126.2:p.Ala726=
ENST00000490179.4:c.2181A>G	ENSP00000495533.2:p.Ala727=
ENST00000642261.2:c.2181A>G	ENSP00000494743.2:p.Ala727=
ENST00000643275.2:c.*121A>G	ENSP00000495598.2:n.*121A>G
ENST00000643362.2:c.1794A>G	ENSP00000496398.2:p.Ala598=
ENST00000643625.2:c.2041+733A>G	ENSP00000495546.2:n.2041+733A>G
ENST00000643691.2:c.1818A>G	ENSP00000494916.2:p.Ala606=
ENST00000644184.2:c.2181A>G	ENSP00000495428.2:p.Ala727=
ENST00000645129.2:c.2025A>G	ENSP00000493639.2:p.Ala675=
ENST00000646440.2:c.2181A>G	ENSP00000495830.2:p.Ala727=
ENST00000298552.9:c.2181A>G MANE Select	ENSP00000298552.3:p.Ala727=
ENST00000642261.1:c.245A>G
ENST00000642617.1:c.2178A>G	ENSP00000493773.1:p.Ala726=
ENST00000642627.1:c.2163A>G	ENSP00000496772.1:p.Ala721=
ENST00000642811.1:c.*1951A>G	ENSP00000495554.1:n.*1951A>G
ENST00000643072.1:c.2028A>G	ENSP00000496691.1:p.Ala676=
ENST00000643275.1:c.655A>G	ENSP00000495598.1:n.655A>G
ENST00000643583.1:c.2166A>G	ENSP00000494685.1:p.Ala722=
ENST00000643625.1:c.85+733A>G	ENSP00000495546.1:n.85+733A>G
ENST00000643875.1:c.2181A>G	ENSP00000495158.1:p.Ala727=
ENST00000644097.1:c.2178A>G	ENSP00000494682.1:p.Ala726=
ENST00000644184.1:c.918A>G	ENSP00000495428.1:p.Ala306=
ENST00000644255.1:c.*1948A>G	ENSP00000493608.1:n.*1948A>G
ENST00000644319.1:n.2556A>G
ENST00000644882.1:n.1136A>G
ENST00000645901.1:n.3032A>G
ENST00000646391.1:c.*1951A>G	ENSP00000494104.1:n.*1951A>G
ENST00000646625.1:c.2181A>G	ENSP00000496263.1:p.Ala727=
ENST00000647262.1:n.1146A>G
ENST00000647279.1:c.*1420A>G	ENSP00000494502.1:n.*1420A>G
ENST00000647506.1:n.3057A>G
ENST00000647534.1:n.1245A>G
ENST00000298552.7:c.2181A>G	ENSP00000298552.3:p.Ala727=
ENST00000440111.6:c.2181A>G	ENSP00000394524.2:p.Ala727=
ENST00000545250.5:c.2028A>G	ENSP00000444017.1:p.Ala676=
NM_000368.4:c.2181A>G , LRG_486t1:c.2181A>G	NP_000359.1:p.Ala727=
NM_001162426.1:c.2178A>G	NP_001155898.1:p.Ala726=
NM_001162427.1:c.2028A>G	NP_001155899.1:p.Ala676=
XM_005272211.1:c.2181A>G	XP_005272268.1:p.Ala727=
XM_006717271.1:c.2181A>G	XP_006717334.1:p.Ala727=
XM_011518979.1:c.2181A>G	XP_011517281.1:p.Ala727=
NM_001362177.1:c.1818A>G	NP_001349106.1:p.Ala606=
XM_011518979.2:c.2181A>G	XP_011517281.1:p.Ala727=
XM_017015096.1:c.2181A>G	XP_016870585.1:p.Ala727=
XM_017015097.1:c.2181A>G	XP_016870586.1:p.Ala727=
XM_017015098.1:c.2178A>G	XP_016870587.1:p.Ala726=
XM_017015100.1:c.1818A>G	XP_016870589.1:p.Ala606=
XM_017015101.1:c.1815A>G	XP_016870590.1:p.Ala605=
NM_000368.5:c.2181A>G MANE Select	NP_000359.1:p.Ala727=
NM_001162426.2:c.2178A>G	NP_001155898.1:p.Ala726=
NM_001162427.2:c.2028A>G	NP_001155899.1:p.Ala676=
NM_001362177.2:c.1818A>G	NP_001349106.1:p.Ala606=