Canonical Allele Identifier: CA467594458

Gene: TSC1

Linked Data

• dbSNP Id: rs1588297282
• MyVariant Identifiers: chr9:g.135776153G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.132900766G>C , CM000671.2:g.132900766G>C	GRCh38
NC_000009.11:g.135776153G>C , CM000671.1:g.135776153G>C	GRCh37
NC_000009.10:g.134765974G>C	NCBI36
NG_012386.1:g.48868C>G , LRG_486:g.48868C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475903.7:c.2571C>G	ENSP00000496126.2:p.Val857=
ENST00000490179.4:c.2574C>G	ENSP00000495533.2:p.Val858=
ENST00000642261.2:c.*353C>G	ENSP00000494743.2:n.*353C>G
ENST00000643275.2:c.*514C>G	ENSP00000495598.2:n.*514C>G
ENST00000643362.2:c.2187C>G	ENSP00000496398.2:p.Val729=
ENST00000643625.2:c.*316C>G	ENSP00000495546.2:n.*316C>G
ENST00000643691.2:c.2211C>G	ENSP00000494916.2:p.Val737=
ENST00000644184.2:c.2532C>G	ENSP00000495428.2:p.Val844=
ENST00000645129.2:c.2418C>G	ENSP00000493639.2:p.Val806=
ENST00000646440.2:c.2574C>G	ENSP00000495830.2:p.Val858=
ENST00000298552.9:c.2574C>G MANE Select	ENSP00000298552.3:p.Val858=
ENST00000642261.1:c.634C>G
ENST00000642617.1:c.2571C>G	ENSP00000493773.1:p.Val857=
ENST00000642627.1:c.2556C>G	ENSP00000496772.1:p.Val852=
ENST00000642811.1:c.*2344C>G	ENSP00000495554.1:n.*2344C>G
ENST00000643072.1:c.2421C>G	ENSP00000496691.1:p.Val807=
ENST00000643275.1:c.1048C>G	ENSP00000495598.1:n.1048C>G
ENST00000643583.1:c.2559C>G	ENSP00000494685.1:p.Val853=
ENST00000643625.1:c.451C>G	ENSP00000495546.1:n.451C>G
ENST00000643875.1:c.2574C>G	ENSP00000495158.1:p.Val858=
ENST00000644097.1:c.2571C>G	ENSP00000494682.1:p.Val857=
ENST00000644184.1:c.1269C>G	ENSP00000495428.1:p.Val423=
ENST00000644255.1:c.*2341C>G	ENSP00000493608.1:n.*2341C>G
ENST00000644319.1:n.2949C>G
ENST00000644786.1:n.233C>G
ENST00000644882.1:n.1487C>G
ENST00000645901.1:n.3425C>G
ENST00000646391.1:c.*2344C>G	ENSP00000494104.1:n.*2344C>G
ENST00000646625.1:c.2574C>G	ENSP00000496263.1:p.Val858=
ENST00000647262.1:n.1539C>G
ENST00000647279.1:c.*1813C>G	ENSP00000494502.1:n.*1813C>G
ENST00000647506.1:n.3450C>G
ENST00000647534.1:n.1638C>G
ENST00000298552.7:c.2574C>G	ENSP00000298552.3:p.Val858=
ENST00000440111.6:c.2574C>G	ENSP00000394524.2:p.Val858=
ENST00000545250.5:c.2421C>G	ENSP00000444017.1:p.Val807=
NM_000368.4:c.2574C>G , LRG_486t1:c.2574C>G	NP_000359.1:p.Val858=
NM_001162426.1:c.2571C>G	NP_001155898.1:p.Val857=
NM_001162427.1:c.2421C>G	NP_001155899.1:p.Val807=
XM_005272211.1:c.2574C>G	XP_005272268.1:p.Val858=
XM_006717271.1:c.2574C>G	XP_006717334.1:p.Val858=
XM_011518979.1:c.2574C>G	XP_011517281.1:p.Val858=
NM_001362177.1:c.2211C>G	NP_001349106.1:p.Val737=
XM_011518979.2:c.2574C>G	XP_011517281.1:p.Val858=
XM_017015096.1:c.2574C>G	XP_016870585.1:p.Val858=
XM_017015097.1:c.2574C>G	XP_016870586.1:p.Val858=
XM_017015098.1:c.2571C>G	XP_016870587.1:p.Val857=
XM_017015100.1:c.2211C>G	XP_016870589.1:p.Val737=
XM_017015101.1:c.2208C>G	XP_016870590.1:p.Val736=
NM_000368.5:c.2574C>G MANE Select	NP_000359.1:p.Val858=
NM_001162426.2:c.2571C>G	NP_001155898.1:p.Val857=
NM_001162427.2:c.2421C>G	NP_001155899.1:p.Val807=
NM_001362177.2:c.2211C>G	NP_001349106.1:p.Val737=