Canonical Allele Identifier: CA379476240
Gene: TPP1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6617661G>C , CM000673.2:g.6617661G>C GRCh38
NC_000011.9:g.6638892G>C , CM000673.1:g.6638892G>C GRCh37
NC_000011.8:g.6595468G>C NCBI36
NG_008653.1:g.6801C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000682424.1:c.231C>G ENSP00000507321.1:p.Ile77Met
ENST00000299427.12:c.345C>G MANE Select ENSP00000299427.6:p.Ile115Met
ENST00000428886.7:n.433C>G
ENST00000436873.7:c.149C>G
ENST00000524788.2:n.1357C>G
ENST00000524903.2:n.1473C>G
ENST00000528571.6:c.*85C>G ENSP00000434647.1:n.*85C>G
ENST00000530040.2:n.374C>G
ENST00000533371.6:c.-385C>G ENSP00000437066.1:n.-385C>G
ENST00000534644.6:n.346C>G
ENST00000642892.1:c.-332C>G ENSP00000494165.1:n.-332C>G
ENST00000643439.1:c.*85C>G ENSP00000495849.1:n.*85C>G
ENST00000643479.1:n.374C>G
ENST00000643516.1:c.232C>G
ENST00000644151.1:n.1637C>G
ENST00000644218.1:c.345C>G ENSP00000493574.1:p.Ile115Met
ENST00000644683.1:c.345C>G ENSP00000494085.1:p.Ile115Met
ENST00000644810.1:c.230-508C>G ENSP00000495895.1:n.230-508C>G
ENST00000644831.1:n.374C>G
ENST00000644933.1:c.-385C>G ENSP00000496133.1:n.-385C>G
ENST00000645020.1:n.1373C>G
ENST00000645285.1:c.-385C>G ENSP00000495058.1:n.-385C>G
ENST00000645331.1:n.367C>G
ENST00000645620.1:c.-327C>G ENSP00000493657.1:n.-327C>G
ENST00000646777.1:n.374C>G
ENST00000647016.1:n.678C>G
ENST00000647152.1:c.-385C>G ENSP00000495893.1:n.-385C>G
ENST00000647209.1:c.*214C>G ENSP00000495558.1:n.*214C>G
ENST00000647346.1:n.1365C>G
ENST00000299427.10:c.345C>G ENSP00000299427.6:p.Ile115Met
ENST00000428886.6:n.367C>G
ENST00000436873.6:c.345C>G ENSP00000398136.2:p.Ile115Met
ENST00000528571.5:c.*85C>G ENSP00000434647.1:n.*85C>G
ENST00000530040.1:n.457C>G
ENST00000533371.5:c.-385C>G ENSP00000437066.1:n.-385C>G
ENST00000534644.5:n.330C>G
ENST00000611494.4:c.345C>G ENSP00000484546.1:p.Ile115Met
NM_000391.3:c.345C>G NP_000382.3:p.Ile115Met
NM_000391.4:c.345C>G MANE Select NP_000382.3:p.Ile115Met