Canonical Allele Identifier: CA039696
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 237732
dbSNP Id: rs397515293

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.132911567C>G , CM000671.2:g.132911567C>G GRCh38
NC_000009.11:g.135786954C>G , CM000671.1:g.135786954C>G GRCh37
NC_000009.10:g.134776775C>G NCBI36
NG_012386.1:g.38067G>C , LRG_486:g.38067G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000298552.9:c.915G>C MANE Select ENSP00000298552.3:p.Gly305=
ENST00000403810.6:c.915G>C ENSP00000386093.1:p.Gly305=
ENST00000493467.6:n.189G>C
ENST00000642344.1:c.*656G>C ENSP00000494847.1:p.=
ENST00000642617.1:c.915G>C ENSP00000493773.1:p.Gly305=
ENST00000642627.1:c.915G>C ENSP00000496772.1:p.Gly305=
ENST00000642646.1:c.915G>C ENSP00000496292.1:p.Gly305=
ENST00000642745.1:c.915G>C ENSP00000493963.1:p.Gly305=
ENST00000642811.1:c.*685G>C ENSP00000495554.1:p.=
ENST00000642854.1:c.*700G>C ENSP00000494639.1:p.=
ENST00000643072.1:c.762G>C ENSP00000496691.1:p.Gly254=
ENST00000643362.1:c.762G>C ENSP00000496398.1:p.Gly254=
ENST00000643583.1:c.915G>C ENSP00000494685.1:p.Gly305=
ENST00000643691.1:c.552G>C ENSP00000494916.1:p.Gly184=
ENST00000643875.1:c.915G>C ENSP00000495158.1:p.Gly305=
ENST00000644097.1:c.915G>C ENSP00000494682.1:p.Gly305=
ENST00000644255.1:c.*685G>C ENSP00000493608.1:p.=
ENST00000644319.1:n.642G>C
ENST00000644997.1:c.*572G>C ENSP00000495654.1:p.=
ENST00000645129.1:c.762G>C ENSP00000493639.1:p.Gly254=
ENST00000645150.1:c.915G>C ENSP00000494365.1:p.Gly305=
ENST00000645901.1:n.1118G>C
ENST00000646391.1:c.*685G>C ENSP00000494104.1:p.=
ENST00000646625.1:c.915G>C ENSP00000496263.1:p.Gly305=
ENST00000647078.1:c.915G>C ENSP00000496066.1:p.Gly305=
ENST00000647279.1:c.*154G>C ENSP00000494502.1:p.=
ENST00000647462.1:c.915G>C ENSP00000495821.1:p.Gly305=
ENST00000647506.1:n.1143G>C
ENST00000298552.7:c.915G>C ENSP00000298552.3:p.Gly305=
ENST00000403810.5:c.915G>C ENSP00000386093.1:p.Gly305=
ENST00000440111.6:c.915G>C ENSP00000394524.2:p.Gly305=
ENST00000493467.5:n.1111G>C
ENST00000545250.5:c.762G>C ENSP00000444017.1:p.Gly254=
NM_000368.4:c.915G>C , LRG_486t1:c.915G>C NP_000359.1:p.Gly305=
NM_001162426.1:c.915G>C NP_001155898.1:p.Gly305=
NM_001162427.1:c.762G>C NP_001155899.1:p.Gly254=
XM_005272211.1:c.915G>C XP_005272268.1:p.Gly305=
XM_006717271.1:c.915G>C XP_006717334.1:p.Gly305=
XM_006717272.2:c.915G>C XP_006717335.1:p.Gly305=
XM_011518979.1:c.915G>C XP_011517281.1:p.Gly305=
NM_001362177.1:c.552G>C NP_001349106.1:p.Gly184=
XM_011518979.2:c.915G>C XP_011517281.1:p.Gly305=
XM_017015096.1:c.915G>C XP_016870585.1:p.Gly305=
XM_017015097.1:c.915G>C XP_016870586.1:p.Gly305=
XM_017015098.1:c.915G>C XP_016870587.1:p.Gly305=
XM_017015100.1:c.552G>C XP_016870589.1:p.Gly184=
XM_017015101.1:c.552G>C XP_016870590.1:p.Gly184=
NM_000368.5:c.915G>C MANE Select NP_000359.1:p.Gly305=
NM_001162426.2:c.915G>C NP_001155898.1:p.Gly305=
NM_001162427.2:c.762G>C NP_001155899.1:p.Gly254=
NM_001362177.2:c.552G>C NP_001349106.1:p.Gly184=