Canonical Allele Identifier: CA379475810
Gene: TPP1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6617348G>T , CM000673.2:g.6617348G>T GRCh38
NC_000011.9:g.6638579G>T , CM000673.1:g.6638579G>T GRCh37
NC_000011.8:g.6595155G>T NCBI36
NG_008653.1:g.7114C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000682424.1:c.347C>A ENSP00000507321.1:p.Pro116Gln
ENST00000299427.12:c.461C>A MANE Select ENSP00000299427.6:p.Pro154Gln
ENST00000428886.7:n.549C>A
ENST00000436873.7:c.265C>A
ENST00000524788.2:n.1473C>A
ENST00000524903.2:n.1589C>A
ENST00000528571.6:c.*201C>A ENSP00000434647.1:n.*201C>A
ENST00000528807.2:n.117C>A
ENST00000530040.2:n.479+11C>A
ENST00000533371.6:c.-269C>A ENSP00000437066.1:n.-269C>A
ENST00000534644.6:n.456+6C>A
ENST00000642892.1:c.-222+6C>A ENSP00000494165.1:n.-222+6C>A
ENST00000643439.1:c.*201C>A ENSP00000495849.1:n.*201C>A
ENST00000643479.1:n.490C>A
ENST00000643516.1:c.348C>A
ENST00000644151.1:n.1753C>A
ENST00000644218.1:c.461C>A ENSP00000493574.1:p.Pro154Gln
ENST00000644683.1:c.450+11C>A ENSP00000494085.1:n.450+11C>A
ENST00000644810.1:c.230-195C>A ENSP00000495895.1:n.230-195C>A
ENST00000644831.1:n.490C>A
ENST00000644933.1:c.-269C>A ENSP00000496133.1:n.-269C>A
ENST00000645020.1:n.1489C>A
ENST00000645285.1:c.-269C>A ENSP00000495058.1:n.-269C>A
ENST00000645331.1:n.680C>A
ENST00000645620.1:c.-222+11C>A ENSP00000493657.1:n.-222+11C>A
ENST00000646777.1:n.490C>A
ENST00000647016.1:n.794C>A
ENST00000647152.1:c.-269C>A ENSP00000495893.1:n.-269C>A
ENST00000647209.1:c.*330C>A ENSP00000495558.1:n.*330C>A
ENST00000647346.1:n.1481C>A
ENST00000299427.10:c.461C>A ENSP00000299427.6:p.Pro154Gln
ENST00000428886.6:n.483C>A
ENST00000436873.6:c.450+11C>A ENSP00000398136.2:n.450+11C>A
ENST00000524788.1:n.14C>A
ENST00000528571.5:c.*201C>A ENSP00000434647.1:n.*201C>A
ENST00000533371.5:c.-269C>A ENSP00000437066.1:n.-269C>A
ENST00000534644.5:n.446C>A
ENST00000611494.4:c.461C>A ENSP00000484546.1:p.Pro154Gln
NM_000391.3:c.461C>A NP_000382.3:p.Pro154Gln
NM_000391.4:c.461C>A MANE Select NP_000382.3:p.Pro154Gln