Canonical Allele Identifier: CA028025
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 466024
dbSNP Id: rs199800297

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.132907319G>C , CM000671.2:g.132907319G>C GRCh38
NC_000009.11:g.135782706G>C , CM000671.1:g.135782706G>C GRCh37
NC_000009.10:g.134772527G>C NCBI36
NG_012386.1:g.42315C>G , LRG_486:g.42315C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000475903.7:c.1312C>G ENSP00000496126.2:p.Leu438Val
ENST00000490179.4:c.1315C>G ENSP00000495533.2:p.Leu439Val
ENST00000642261.2:c.1315C>G ENSP00000494743.2:p.Leu439Val
ENST00000643275.2:c.1315C>G ENSP00000495598.2:p.Leu439Val
ENST00000643362.2:c.928C>G ENSP00000496398.2:p.Leu310Val
ENST00000643625.2:c.1315C>G ENSP00000495546.2:p.Leu439Val
ENST00000643691.2:c.952C>G ENSP00000494916.2:p.Leu318Val
ENST00000644184.2:c.1315C>G ENSP00000495428.2:p.Leu439Val
ENST00000645129.2:c.1159C>G ENSP00000493639.2:p.Leu387Val
ENST00000646440.2:c.1315C>G ENSP00000495830.2:p.Leu439Val
ENST00000298552.9:c.1315C>G MANE Select ENSP00000298552.3:p.Leu439Val
ENST00000642344.1:c.*1056C>G ENSP00000494847.1:n.*1056C>G
ENST00000642617.1:c.1312C>G ENSP00000493773.1:p.Leu438Val
ENST00000642627.1:c.1312C>G ENSP00000496772.1:p.Leu438Val
ENST00000642811.1:c.*1085C>G ENSP00000495554.1:n.*1085C>G
ENST00000643072.1:c.1162C>G ENSP00000496691.1:p.Leu388Val
ENST00000643362.1:c.928C>G ENSP00000496398.1:p.Leu310Val
ENST00000643583.1:c.1315C>G ENSP00000494685.1:p.Leu439Val
ENST00000643875.1:c.1315C>G ENSP00000495158.1:p.Leu439Val
ENST00000644097.1:c.1312C>G ENSP00000494682.1:p.Leu438Val
ENST00000644184.1:c.52C>G ENSP00000495428.1:p.Leu18Val
ENST00000644255.1:c.*1082C>G ENSP00000493608.1:n.*1082C>G
ENST00000644319.1:n.1690C>G
ENST00000645901.1:n.2166C>G
ENST00000646391.1:c.*1085C>G ENSP00000494104.1:n.*1085C>G
ENST00000646625.1:c.1315C>G ENSP00000496263.1:p.Leu439Val
ENST00000647279.1:c.*554C>G ENSP00000494502.1:n.*554C>G
ENST00000647506.1:n.2191C>G
ENST00000647534.1:n.379C>G
ENST00000298552.7:c.1315C>G ENSP00000298552.3:p.Leu439Val
ENST00000440111.6:c.1315C>G ENSP00000394524.2:p.Leu439Val
ENST00000545250.5:c.1162C>G ENSP00000444017.1:p.Leu388Val
NM_000368.4:c.1315C>G , LRG_486t1:c.1315C>G NP_000359.1:p.Leu439Val
NM_001162426.1:c.1312C>G NP_001155898.1:p.Leu438Val
NM_001162427.1:c.1162C>G NP_001155899.1:p.Leu388Val
XM_005272211.1:c.1315C>G XP_005272268.1:p.Leu439Val
XM_006717271.1:c.1315C>G XP_006717334.1:p.Leu439Val
XM_006717272.2:c.1315C>G XP_006717335.1:p.Leu439Val
XM_011518979.1:c.1315C>G XP_011517281.1:p.Leu439Val
NM_001362177.1:c.952C>G NP_001349106.1:p.Leu318Val
XM_011518979.2:c.1315C>G XP_011517281.1:p.Leu439Val
XM_017015096.1:c.1315C>G XP_016870585.1:p.Leu439Val
XM_017015097.1:c.1315C>G XP_016870586.1:p.Leu439Val
XM_017015098.1:c.1312C>G XP_016870587.1:p.Leu438Val
XM_017015100.1:c.952C>G XP_016870589.1:p.Leu318Val
XM_017015101.1:c.949C>G XP_016870590.1:p.Leu317Val
NM_000368.5:c.1315C>G MANE Select NP_000359.1:p.Leu439Val
NM_001162426.2:c.1312C>G NP_001155898.1:p.Leu438Val
NM_001162427.2:c.1162C>G NP_001155899.1:p.Leu388Val
NM_001362177.2:c.952C>G NP_001349106.1:p.Leu318Val