Canonical Allele Identifier: CA379475594
Gene: TPP1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6617117A>T , CM000673.2:g.6617117A>T GRCh38
NC_000011.9:g.6638348A>T , CM000673.1:g.6638348A>T GRCh37
NC_000011.8:g.6594924A>T NCBI36
NG_008653.1:g.7345T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000682424.1:c.431T>A ENSP00000507321.1:p.Leu144Gln
ENST00000299427.12:c.545T>A MANE Select ENSP00000299427.6:p.Leu182Gln
ENST00000428886.7:n.780T>A
ENST00000436873.7:c.312+184T>A
ENST00000524788.2:n.1704T>A
ENST00000524903.2:n.1820T>A
ENST00000528807.2:n.201T>A
ENST00000530040.2:n.479+242T>A
ENST00000533371.6:c.-185T>A ENSP00000437066.1:n.-185T>A
ENST00000534644.6:n.493T>A
ENST00000642892.1:c.-185T>A ENSP00000494165.1:n.-185T>A
ENST00000643439.1:c.*285T>A ENSP00000495849.1:n.*285T>A
ENST00000643479.1:n.574T>A
ENST00000643516.1:c.395+184T>A
ENST00000644151.1:n.1984T>A
ENST00000644218.1:c.545T>A ENSP00000493574.1:p.Leu182Gln
ENST00000644683.1:c.487T>A ENSP00000494085.1:p.Ter163Arg
ENST00000644810.1:c.266T>A ENSP00000495895.1:p.Leu89Gln
ENST00000644831.1:n.721T>A
ENST00000644933.1:c.-185T>A ENSP00000496133.1:n.-185T>A
ENST00000645020.1:n.1720T>A
ENST00000645285.1:c.-185T>A ENSP00000495058.1:n.-185T>A
ENST00000645331.1:n.911T>A
ENST00000645620.1:c.-185T>A ENSP00000493657.1:n.-185T>A
ENST00000646777.1:n.721T>A
ENST00000647016.1:n.1025T>A
ENST00000647152.1:c.-185T>A ENSP00000495893.1:n.-185T>A
ENST00000647209.1:c.*414T>A ENSP00000495558.1:n.*414T>A
ENST00000647346.1:n.1565T>A
ENST00000299427.10:c.545T>A ENSP00000299427.6:p.Leu182Gln
ENST00000428886.6:n.714T>A
ENST00000436873.6:c.450+242T>A ENSP00000398136.2:n.450+242T>A
ENST00000524788.1:n.245T>A
ENST00000528571.5:c.*285T>A ENSP00000434647.1:n.*285T>A
ENST00000528807.1:n.95T>A
ENST00000533371.5:c.-185T>A ENSP00000437066.1:n.-185T>A
ENST00000534644.5:n.530T>A
ENST00000611494.4:c.545T>A ENSP00000484546.1:p.Leu182Gln
NM_000391.3:c.545T>A NP_000382.3:p.Leu182Gln
NM_000391.4:c.545T>A MANE Select NP_000382.3:p.Leu182Gln