Canonical Allele Identifier: CA379475576
Gene: TPP1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6617109G>T , CM000673.2:g.6617109G>T GRCh38
NC_000011.9:g.6638340G>T , CM000673.1:g.6638340G>T GRCh37
NC_000011.8:g.6594916G>T NCBI36
NG_008653.1:g.7353C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000682424.1:c.439C>A ENSP00000507321.1:p.Arg147Ser
ENST00000299427.12:c.553C>A MANE Select ENSP00000299427.6:p.Arg185Ser
ENST00000428886.7:n.788C>A
ENST00000436873.7:c.312+192C>A
ENST00000524788.2:n.1712C>A
ENST00000524903.2:n.1828C>A
ENST00000528807.2:n.209C>A
ENST00000530040.2:n.479+250C>A
ENST00000533371.6:c.-177C>A ENSP00000437066.1:n.-177C>A
ENST00000534644.6:n.501C>A
ENST00000642892.1:c.-177C>A ENSP00000494165.1:n.-177C>A
ENST00000643439.1:c.*293C>A ENSP00000495849.1:n.*293C>A
ENST00000643479.1:n.582C>A
ENST00000643516.1:c.395+192C>A
ENST00000644151.1:n.1992C>A
ENST00000644218.1:c.553C>A ENSP00000493574.1:p.Arg185Ser
ENST00000644683.1:c.*6C>A ENSP00000494085.1:n.*6C>A
ENST00000644810.1:c.274C>A ENSP00000495895.1:p.Arg92Ser
ENST00000644831.1:n.729C>A
ENST00000644933.1:c.-177C>A ENSP00000496133.1:n.-177C>A
ENST00000645020.1:n.1728C>A
ENST00000645285.1:c.-177C>A ENSP00000495058.1:n.-177C>A
ENST00000645331.1:n.919C>A
ENST00000645620.1:c.-177C>A ENSP00000493657.1:n.-177C>A
ENST00000646777.1:n.729C>A
ENST00000647016.1:n.1033C>A
ENST00000647152.1:c.-177C>A ENSP00000495893.1:n.-177C>A
ENST00000647209.1:c.*422C>A ENSP00000495558.1:n.*422C>A
ENST00000647346.1:n.1573C>A
ENST00000299427.10:c.553C>A ENSP00000299427.6:p.Arg185Ser
ENST00000428886.6:n.722C>A
ENST00000436873.6:c.450+250C>A ENSP00000398136.2:n.450+250C>A
ENST00000524788.1:n.253C>A
ENST00000528571.5:c.*293C>A ENSP00000434647.1:n.*293C>A
ENST00000528807.1:n.103C>A
ENST00000533371.5:c.-177C>A ENSP00000437066.1:n.-177C>A
ENST00000534644.5:n.538C>A
ENST00000611494.4:c.553C>A ENSP00000484546.1:p.Arg185Ser
NM_000391.3:c.553C>A NP_000382.3:p.Arg185Ser
NM_000391.4:c.553C>A MANE Select NP_000382.3:p.Arg185Ser