Canonical Allele Identifier: CA379475984
Gene: TPP1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6617395A>C , CM000673.2:g.6617395A>C GRCh38
NC_000011.9:g.6638626A>C , CM000673.1:g.6638626A>C GRCh37
NC_000011.8:g.6595202A>C NCBI36
NG_008653.1:g.7067T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000682424.1:c.300T>G ENSP00000507321.1:p.Phe100Leu
ENST00000299427.12:c.414T>G MANE Select ENSP00000299427.6:p.Phe138Leu
ENST00000428886.7:n.502T>G
ENST00000436873.7:c.218T>G
ENST00000524788.2:n.1426T>G
ENST00000524903.2:n.1542T>G
ENST00000528571.6:c.*154T>G ENSP00000434647.1:n.*154T>G
ENST00000528807.2:n.70T>G
ENST00000530040.2:n.443T>G
ENST00000533371.6:c.-316T>G ENSP00000437066.1:n.-316T>G
ENST00000534644.6:n.415T>G
ENST00000642892.1:c.-263T>G ENSP00000494165.1:n.-263T>G
ENST00000643439.1:c.*154T>G ENSP00000495849.1:n.*154T>G
ENST00000643479.1:n.443T>G
ENST00000643516.1:c.301T>G
ENST00000644151.1:n.1706T>G
ENST00000644218.1:c.414T>G ENSP00000493574.1:p.Phe138Leu
ENST00000644683.1:c.414T>G ENSP00000494085.1:p.Phe138Leu
ENST00000644810.1:c.230-242T>G ENSP00000495895.1:n.230-242T>G
ENST00000644831.1:n.443T>G
ENST00000644933.1:c.-316T>G ENSP00000496133.1:n.-316T>G
ENST00000645020.1:n.1442T>G
ENST00000645285.1:c.-316T>G ENSP00000495058.1:n.-316T>G
ENST00000645331.1:n.633T>G
ENST00000645620.1:c.-258T>G ENSP00000493657.1:n.-258T>G
ENST00000646777.1:n.443T>G
ENST00000647016.1:n.747T>G
ENST00000647152.1:c.-316T>G ENSP00000495893.1:n.-316T>G
ENST00000647209.1:c.*283T>G ENSP00000495558.1:n.*283T>G
ENST00000647346.1:n.1434T>G
ENST00000299427.10:c.414T>G ENSP00000299427.6:p.Phe138Leu
ENST00000428886.6:n.436T>G
ENST00000436873.6:c.414T>G ENSP00000398136.2:p.Phe138Leu
ENST00000528571.5:c.*154T>G ENSP00000434647.1:n.*154T>G
ENST00000530040.1:n.526T>G
ENST00000533371.5:c.-316T>G ENSP00000437066.1:n.-316T>G
ENST00000534644.5:n.399T>G
ENST00000611494.4:c.414T>G ENSP00000484546.1:p.Phe138Leu
NM_000391.3:c.414T>G NP_000382.3:p.Phe138Leu
NM_000391.4:c.414T>G MANE Select NP_000382.3:p.Phe138Leu