Canonical Allele Identifier: CA379476238
Gene: TPP1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6617660T>G , CM000673.2:g.6617660T>G GRCh38
NC_000011.9:g.6638891T>G , CM000673.1:g.6638891T>G GRCh37
NC_000011.8:g.6595467T>G NCBI36
NG_008653.1:g.6802A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000682424.1:c.232A>C ENSP00000507321.1:p.Thr78Pro
ENST00000299427.12:c.346A>C MANE Select ENSP00000299427.6:p.Thr116Pro
ENST00000428886.7:n.434A>C
ENST00000436873.7:c.150A>C
ENST00000524788.2:n.1358A>C
ENST00000524903.2:n.1474A>C
ENST00000528571.6:c.*86A>C ENSP00000434647.1:n.*86A>C
ENST00000530040.2:n.375A>C
ENST00000533371.6:c.-384A>C ENSP00000437066.1:n.-384A>C
ENST00000534644.6:n.347A>C
ENST00000642892.1:c.-331A>C ENSP00000494165.1:n.-331A>C
ENST00000643439.1:c.*86A>C ENSP00000495849.1:n.*86A>C
ENST00000643479.1:n.375A>C
ENST00000643516.1:c.233A>C
ENST00000644151.1:n.1638A>C
ENST00000644218.1:c.346A>C ENSP00000493574.1:p.Thr116Pro
ENST00000644683.1:c.346A>C ENSP00000494085.1:p.Thr116Pro
ENST00000644810.1:c.230-507A>C ENSP00000495895.1:n.230-507A>C
ENST00000644831.1:n.375A>C
ENST00000644933.1:c.-384A>C ENSP00000496133.1:n.-384A>C
ENST00000645020.1:n.1374A>C
ENST00000645285.1:c.-384A>C ENSP00000495058.1:n.-384A>C
ENST00000645331.1:n.368A>C
ENST00000645620.1:c.-326A>C ENSP00000493657.1:n.-326A>C
ENST00000646777.1:n.375A>C
ENST00000647016.1:n.679A>C
ENST00000647152.1:c.-384A>C ENSP00000495893.1:n.-384A>C
ENST00000647209.1:c.*215A>C ENSP00000495558.1:n.*215A>C
ENST00000647346.1:n.1366A>C
ENST00000299427.10:c.346A>C ENSP00000299427.6:p.Thr116Pro
ENST00000428886.6:n.368A>C
ENST00000436873.6:c.346A>C ENSP00000398136.2:p.Thr116Pro
ENST00000528571.5:c.*86A>C ENSP00000434647.1:n.*86A>C
ENST00000530040.1:n.458A>C
ENST00000533371.5:c.-384A>C ENSP00000437066.1:n.-384A>C
ENST00000534644.5:n.331A>C
ENST00000611494.4:c.346A>C ENSP00000484546.1:p.Thr116Pro
NM_000391.3:c.346A>C NP_000382.3:p.Thr116Pro
NM_000391.4:c.346A>C MANE Select NP_000382.3:p.Thr116Pro