Canonical Allele Identifier: CA16041516
Gene: TPP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 370272
dbSNP Id: rs1057516366

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6617053dup , CM000673.2:g.6617053dup GRCh38
NC_000011.9:g.6638284dup , CM000673.1:g.6638284dup GRCh37
NC_000011.8:g.6594860dup NCBI36
NG_008653.1:g.7409dup

Transcript Alleles

HGVS Amino-acid change
ENST00000682424.1:c.495dup ENSP00000507321.1:p.Val166CysfsTer4
ENST00000299427.12:c.609dup MANE Select ENSP00000299427.6:p.Val204CysfsTer4
ENST00000436873.7:c.312+248dup
ENST00000524788.2:n.1768dup
ENST00000524903.2:n.1884dup
ENST00000528807.2:n.265dup
ENST00000530040.2:n.479+306dup
ENST00000533371.6:c.-121dup ENSP00000437066.1:n.-121dup
ENST00000534644.6:n.557dup
ENST00000642892.1:c.-121dup ENSP00000494165.1:n.-121dup
ENST00000643439.1:c.*349dup ENSP00000495849.1:n.*349dup
ENST00000643479.1:n.638dup
ENST00000643516.1:c.395+248dup
ENST00000644151.1:n.2048dup
ENST00000644218.1:c.609dup ENSP00000493574.1:p.Val204CysfsTer4
ENST00000644683.1:c.*62dup ENSP00000494085.1:n.*62dup
ENST00000644810.1:c.330dup ENSP00000495895.1:p.Val111CysfsTer4
ENST00000644831.1:n.785dup
ENST00000644933.1:c.-121dup ENSP00000496133.1:n.-121dup
ENST00000645020.1:n.1784dup
ENST00000645285.1:c.-121dup ENSP00000495058.1:n.-121dup
ENST00000645331.1:n.975dup
ENST00000645620.1:c.-121dup ENSP00000493657.1:n.-121dup
ENST00000646777.1:n.785dup
ENST00000647016.1:n.1089dup
ENST00000647152.1:c.-121dup ENSP00000495893.1:n.-121dup
ENST00000647209.1:c.*478dup ENSP00000495558.1:n.*478dup
ENST00000647346.1:n.1629dup
ENST00000299427.10:c.609dup ENSP00000299427.6:p.Val204CysfsTer4
ENST00000428886.6:n.778dup
ENST00000436873.6:c.450+306dup ENSP00000398136.2:n.450+306dup
ENST00000524788.1:n.309dup
ENST00000528571.5:c.*349dup ENSP00000434647.1:n.*349dup
ENST00000528807.1:n.159dup
ENST00000533371.5:c.-121dup ENSP00000437066.1:n.-121dup
ENST00000534644.5:n.594dup
ENST00000611494.4:c.609dup ENSP00000484546.1:p.Val204CysfsTer4
NM_000391.3:c.609dup NP_000382.3:p.Val204CysfsTer4
NM_000391.4:c.609dup MANE Select NP_000382.3:p.Val204CysfsTer4