Canonical Allele Identifier: CA379475636
Gene: TPP1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6617141T>C , CM000673.2:g.6617141T>C GRCh38
NC_000011.9:g.6638372T>C , CM000673.1:g.6638372T>C GRCh37
NC_000011.8:g.6594948T>C NCBI36
NG_008653.1:g.7321A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000682424.1:c.407A>G ENSP00000507321.1:p.His136Arg
ENST00000299427.12:c.521A>G MANE Select ENSP00000299427.6:p.His174Arg
ENST00000428886.7:n.756A>G
ENST00000436873.7:c.312+160A>G
ENST00000524788.2:n.1680A>G
ENST00000524903.2:n.1796A>G
ENST00000528807.2:n.177A>G
ENST00000530040.2:n.479+218A>G
ENST00000533371.6:c.-209A>G ENSP00000437066.1:n.-209A>G
ENST00000534644.6:n.469A>G
ENST00000642892.1:c.-209A>G ENSP00000494165.1:n.-209A>G
ENST00000643439.1:c.*261A>G ENSP00000495849.1:n.*261A>G
ENST00000643479.1:n.550A>G
ENST00000643516.1:c.395+160A>G
ENST00000644151.1:n.1960A>G
ENST00000644218.1:c.521A>G ENSP00000493574.1:p.His174Arg
ENST00000644683.1:c.463A>G ENSP00000494085.1:p.Thr155Ala
ENST00000644810.1:c.242A>G ENSP00000495895.1:p.His81Arg
ENST00000644831.1:n.697A>G
ENST00000644933.1:c.-209A>G ENSP00000496133.1:n.-209A>G
ENST00000645020.1:n.1696A>G
ENST00000645285.1:c.-209A>G ENSP00000495058.1:n.-209A>G
ENST00000645331.1:n.887A>G
ENST00000645620.1:c.-209A>G ENSP00000493657.1:n.-209A>G
ENST00000646777.1:n.697A>G
ENST00000647016.1:n.1001A>G
ENST00000647152.1:c.-209A>G ENSP00000495893.1:n.-209A>G
ENST00000647209.1:c.*390A>G ENSP00000495558.1:n.*390A>G
ENST00000647346.1:n.1541A>G
ENST00000299427.10:c.521A>G ENSP00000299427.6:p.His174Arg
ENST00000428886.6:n.690A>G
ENST00000436873.6:c.450+218A>G ENSP00000398136.2:n.450+218A>G
ENST00000524788.1:n.221A>G
ENST00000528571.5:c.*261A>G ENSP00000434647.1:n.*261A>G
ENST00000528807.1:n.71A>G
ENST00000533371.5:c.-209A>G ENSP00000437066.1:n.-209A>G
ENST00000534644.5:n.506A>G
ENST00000611494.4:c.521A>G ENSP00000484546.1:p.His174Arg
NM_000391.3:c.521A>G NP_000382.3:p.His174Arg
NM_000391.4:c.521A>G MANE Select NP_000382.3:p.His174Arg