Canonical Allele Identifier: CA379475533
Gene: TPP1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6617088C>A , CM000673.2:g.6617088C>A GRCh38
NC_000011.9:g.6638319C>A , CM000673.1:g.6638319C>A GRCh37
NC_000011.8:g.6594895C>A NCBI36
NG_008653.1:g.7374G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000682424.1:c.460G>T ENSP00000507321.1:p.Gly154Trp
ENST00000299427.12:c.574G>T MANE Select ENSP00000299427.6:p.Gly192Trp
ENST00000428886.7:n.809G>T
ENST00000436873.7:c.312+213G>T
ENST00000524788.2:n.1733G>T
ENST00000524903.2:n.1849G>T
ENST00000528807.2:n.230G>T
ENST00000530040.2:n.479+271G>T
ENST00000533371.6:c.-156G>T ENSP00000437066.1:n.-156G>T
ENST00000534644.6:n.522G>T
ENST00000642892.1:c.-156G>T ENSP00000494165.1:n.-156G>T
ENST00000643439.1:c.*314G>T ENSP00000495849.1:n.*314G>T
ENST00000643479.1:n.603G>T
ENST00000643516.1:c.395+213G>T
ENST00000644151.1:n.2013G>T
ENST00000644218.1:c.574G>T ENSP00000493574.1:p.Gly192Trp
ENST00000644683.1:c.*27G>T ENSP00000494085.1:n.*27G>T
ENST00000644810.1:c.295G>T ENSP00000495895.1:p.Gly99Trp
ENST00000644831.1:n.750G>T
ENST00000644933.1:c.-156G>T ENSP00000496133.1:n.-156G>T
ENST00000645020.1:n.1749G>T
ENST00000645285.1:c.-156G>T ENSP00000495058.1:n.-156G>T
ENST00000645331.1:n.940G>T
ENST00000645620.1:c.-156G>T ENSP00000493657.1:n.-156G>T
ENST00000646777.1:n.750G>T
ENST00000647016.1:n.1054G>T
ENST00000647152.1:c.-156G>T ENSP00000495893.1:n.-156G>T
ENST00000647209.1:c.*443G>T ENSP00000495558.1:n.*443G>T
ENST00000647346.1:n.1594G>T
ENST00000299427.10:c.574G>T ENSP00000299427.6:p.Gly192Trp
ENST00000428886.6:n.743G>T
ENST00000436873.6:c.450+271G>T ENSP00000398136.2:n.450+271G>T
ENST00000524788.1:n.274G>T
ENST00000528571.5:c.*314G>T ENSP00000434647.1:n.*314G>T
ENST00000528807.1:n.124G>T
ENST00000533371.5:c.-156G>T ENSP00000437066.1:n.-156G>T
ENST00000534644.5:n.559G>T
ENST00000611494.4:c.574G>T ENSP00000484546.1:p.Gly192Trp
NM_000391.3:c.574G>T NP_000382.3:p.Gly192Trp
NM_000391.4:c.574G>T MANE Select NP_000382.3:p.Gly192Trp