Canonical Allele Identifier: CA379476055
Gene: TPP1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6617418G>T , CM000673.2:g.6617418G>T GRCh38
NC_000011.9:g.6638649G>T , CM000673.1:g.6638649G>T GRCh37
NC_000011.8:g.6595225G>T NCBI36
NG_008653.1:g.7044C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000682424.1:c.277C>A ENSP00000507321.1:p.Leu93Met
ENST00000299427.12:c.391C>A MANE Select ENSP00000299427.6:p.Leu131Met
ENST00000428886.7:n.479C>A
ENST00000436873.7:c.195C>A
ENST00000524788.2:n.1403C>A
ENST00000524903.2:n.1519C>A
ENST00000528571.6:c.*131C>A ENSP00000434647.1:n.*131C>A
ENST00000528807.2:n.47C>A
ENST00000530040.2:n.420C>A
ENST00000533371.6:c.-339C>A ENSP00000437066.1:n.-339C>A
ENST00000534644.6:n.392C>A
ENST00000642892.1:c.-286C>A ENSP00000494165.1:n.-286C>A
ENST00000643439.1:c.*131C>A ENSP00000495849.1:n.*131C>A
ENST00000643479.1:n.420C>A
ENST00000643516.1:c.278C>A
ENST00000644151.1:n.1683C>A
ENST00000644218.1:c.391C>A ENSP00000493574.1:p.Leu131Met
ENST00000644683.1:c.391C>A ENSP00000494085.1:p.Leu131Met
ENST00000644810.1:c.230-265C>A ENSP00000495895.1:n.230-265C>A
ENST00000644831.1:n.420C>A
ENST00000644933.1:c.-339C>A ENSP00000496133.1:n.-339C>A
ENST00000645020.1:n.1419C>A
ENST00000645285.1:c.-339C>A ENSP00000495058.1:n.-339C>A
ENST00000645331.1:n.610C>A
ENST00000645620.1:c.-281C>A ENSP00000493657.1:n.-281C>A
ENST00000646777.1:n.420C>A
ENST00000647016.1:n.724C>A
ENST00000647152.1:c.-339C>A ENSP00000495893.1:n.-339C>A
ENST00000647209.1:c.*260C>A ENSP00000495558.1:n.*260C>A
ENST00000647346.1:n.1411C>A
ENST00000299427.10:c.391C>A ENSP00000299427.6:p.Leu131Met
ENST00000428886.6:n.413C>A
ENST00000436873.6:c.391C>A ENSP00000398136.2:p.Leu131Met
ENST00000528571.5:c.*131C>A ENSP00000434647.1:n.*131C>A
ENST00000530040.1:n.503C>A
ENST00000533371.5:c.-339C>A ENSP00000437066.1:n.-339C>A
ENST00000534644.5:n.376C>A
ENST00000611494.4:c.391C>A ENSP00000484546.1:p.Leu131Met
NM_000391.3:c.391C>A NP_000382.3:p.Leu131Met
NM_000391.4:c.391C>A MANE Select NP_000382.3:p.Leu131Met