Canonical Allele Identifier: CA037947
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 486571
dbSNP Id: rs777484049

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.132921964G>A , CM000671.2:g.132921964G>A GRCh38
NC_000009.11:g.135797351G>A , CM000671.1:g.135797351G>A GRCh37
NC_000009.10:g.134787172G>A NCBI36
NG_012386.1:g.27670C>T , LRG_486:g.27670C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000475903.7:c.518C>T ENSP00000496126.2:p.Ala173Val
ENST00000490179.4:c.518C>T ENSP00000495533.2:p.Ala173Val
ENST00000642261.2:c.518C>T ENSP00000494743.2:p.Ala173Val
ENST00000643275.2:c.518C>T ENSP00000495598.2:p.Ala173Val
ENST00000643362.2:c.365C>T ENSP00000496398.2:p.Ala122Val
ENST00000643625.2:c.518C>T ENSP00000495546.2:p.Ala173Val
ENST00000643691.2:c.155C>T ENSP00000494916.2:p.Ala52Val
ENST00000644184.2:c.518C>T ENSP00000495428.2:p.Ala173Val
ENST00000645129.2:c.365C>T ENSP00000493639.2:p.Ala122Val
ENST00000646440.2:c.518C>T ENSP00000495830.2:p.Ala173Val
ENST00000647078.2:c.518C>T ENSP00000496066.1:p.Ala173Val
ENST00000298552.9:c.518C>T MANE Select ENSP00000298552.3:p.Ala173Val
ENST00000403810.6:c.518C>T ENSP00000386093.1:p.Ala173Val
ENST00000475903.6:c.518C>T ENSP00000496126.1:p.Ala173Val
ENST00000642344.1:c.*259C>T ENSP00000494847.1:n.*259C>T
ENST00000642617.1:c.518C>T ENSP00000493773.1:p.Ala173Val
ENST00000642627.1:c.518C>T ENSP00000496772.1:p.Ala173Val
ENST00000642646.1:c.518C>T ENSP00000496292.1:p.Ala173Val
ENST00000642745.1:c.518C>T ENSP00000493963.1:p.Ala173Val
ENST00000642811.1:c.*288C>T ENSP00000495554.1:n.*288C>T
ENST00000642854.1:c.*303C>T ENSP00000494639.1:n.*303C>T
ENST00000643072.1:c.365C>T ENSP00000496691.1:p.Ala122Val
ENST00000643362.1:c.365C>T ENSP00000496398.1:p.Ala122Val
ENST00000643583.1:c.518C>T ENSP00000494685.1:p.Ala173Val
ENST00000643691.1:c.155C>T ENSP00000494916.1:p.Ala52Val
ENST00000643875.1:c.518C>T ENSP00000495158.1:p.Ala173Val
ENST00000644097.1:c.518C>T ENSP00000494682.1:p.Ala173Val
ENST00000644255.1:c.*288C>T ENSP00000493608.1:n.*288C>T
ENST00000644997.1:c.*175C>T ENSP00000495654.1:n.*175C>T
ENST00000645129.1:c.365C>T ENSP00000493639.1:p.Ala122Val
ENST00000645150.1:c.518C>T ENSP00000494365.1:p.Ala173Val
ENST00000645901.1:n.721C>T
ENST00000645904.1:n.2196C>T
ENST00000646391.1:c.*288C>T ENSP00000494104.1:n.*288C>T
ENST00000646625.1:c.518C>T ENSP00000496263.1:p.Ala173Val
ENST00000647078.1:c.518C>T ENSP00000496066.1:p.Ala173Val
ENST00000647279.1:c.518C>T ENSP00000494502.1:p.Ala173Val
ENST00000647462.1:c.518C>T ENSP00000495821.1:p.Ala173Val
ENST00000647506.1:n.746C>T
ENST00000298552.7:c.518C>T ENSP00000298552.3:p.Ala173Val
ENST00000403810.5:c.518C>T ENSP00000386093.1:p.Ala173Val
ENST00000440111.6:c.518C>T ENSP00000394524.2:p.Ala173Val
ENST00000461879.5:n.347C>T
ENST00000475903.5:n.675C>T
ENST00000493467.5:n.714C>T
ENST00000545250.5:c.365C>T ENSP00000444017.1:p.Ala122Val
NM_000368.4:c.518C>T , LRG_486t1:c.518C>T NP_000359.1:p.Ala173Val
NM_001162426.1:c.518C>T NP_001155898.1:p.Ala173Val
NM_001162427.1:c.365C>T NP_001155899.1:p.Ala122Val
XM_005272211.1:c.518C>T XP_005272268.1:p.Ala173Val
XM_006717271.1:c.518C>T XP_006717334.1:p.Ala173Val
XM_006717272.2:c.518C>T XP_006717335.1:p.Ala173Val
XM_011518979.1:c.518C>T XP_011517281.1:p.Ala173Val
NM_001362177.1:c.155C>T NP_001349106.1:p.Ala52Val
XM_011518979.2:c.518C>T XP_011517281.1:p.Ala173Val
XM_017015096.1:c.518C>T XP_016870585.1:p.Ala173Val
XM_017015097.1:c.518C>T XP_016870586.1:p.Ala173Val
XM_017015098.1:c.518C>T XP_016870587.1:p.Ala173Val
XM_017015100.1:c.155C>T XP_016870589.1:p.Ala52Val
XM_017015101.1:c.155C>T XP_016870590.1:p.Ala52Val
NM_000368.5:c.518C>T MANE Select NP_000359.1:p.Ala173Val
NM_001162426.2:c.518C>T NP_001155898.1:p.Ala173Val
NM_001162427.2:c.365C>T NP_001155899.1:p.Ala122Val
NM_001362177.2:c.155C>T NP_001349106.1:p.Ala52Val