Canonical Allele Identifier: CA379476233
Gene: TPP1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6617659G>C , CM000673.2:g.6617659G>C GRCh38
NC_000011.9:g.6638890G>C , CM000673.1:g.6638890G>C GRCh37
NC_000011.8:g.6595466G>C NCBI36
NG_008653.1:g.6803C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000682424.1:c.233C>G ENSP00000507321.1:p.Thr78Arg
ENST00000299427.12:c.347C>G MANE Select ENSP00000299427.6:p.Thr116Arg
ENST00000428886.7:n.435C>G
ENST00000436873.7:c.151C>G
ENST00000524788.2:n.1359C>G
ENST00000524903.2:n.1475C>G
ENST00000528571.6:c.*87C>G ENSP00000434647.1:n.*87C>G
ENST00000530040.2:n.376C>G
ENST00000533371.6:c.-383C>G ENSP00000437066.1:n.-383C>G
ENST00000534644.6:n.348C>G
ENST00000642892.1:c.-330C>G ENSP00000494165.1:n.-330C>G
ENST00000643439.1:c.*87C>G ENSP00000495849.1:n.*87C>G
ENST00000643479.1:n.376C>G
ENST00000643516.1:c.234C>G
ENST00000644151.1:n.1639C>G
ENST00000644218.1:c.347C>G ENSP00000493574.1:p.Thr116Arg
ENST00000644683.1:c.347C>G ENSP00000494085.1:p.Thr116Arg
ENST00000644810.1:c.230-506C>G ENSP00000495895.1:n.230-506C>G
ENST00000644831.1:n.376C>G
ENST00000644933.1:c.-383C>G ENSP00000496133.1:n.-383C>G
ENST00000645020.1:n.1375C>G
ENST00000645285.1:c.-383C>G ENSP00000495058.1:n.-383C>G
ENST00000645331.1:n.369C>G
ENST00000645620.1:c.-325C>G ENSP00000493657.1:n.-325C>G
ENST00000646777.1:n.376C>G
ENST00000647016.1:n.680C>G
ENST00000647152.1:c.-383C>G ENSP00000495893.1:n.-383C>G
ENST00000647209.1:c.*216C>G ENSP00000495558.1:n.*216C>G
ENST00000647346.1:n.1367C>G
ENST00000299427.10:c.347C>G ENSP00000299427.6:p.Thr116Arg
ENST00000428886.6:n.369C>G
ENST00000436873.6:c.347C>G ENSP00000398136.2:p.Thr116Arg
ENST00000528571.5:c.*87C>G ENSP00000434647.1:n.*87C>G
ENST00000530040.1:n.459C>G
ENST00000533371.5:c.-383C>G ENSP00000437066.1:n.-383C>G
ENST00000534644.5:n.332C>G
ENST00000611494.4:c.347C>G ENSP00000484546.1:p.Thr116Arg
NM_000391.3:c.347C>G NP_000382.3:p.Thr116Arg
NM_000391.4:c.347C>G MANE Select NP_000382.3:p.Thr116Arg