Canonical Allele Identifier: CA379475570
Gene: TPP1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6617105G>T , CM000673.2:g.6617105G>T GRCh38
NC_000011.9:g.6638336G>T , CM000673.1:g.6638336G>T GRCh37
NC_000011.8:g.6594912G>T NCBI36
NG_008653.1:g.7357C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000682424.1:c.443C>A ENSP00000507321.1:p.Pro148His
ENST00000299427.12:c.557C>A MANE Select ENSP00000299427.6:p.Pro186His
ENST00000428886.7:n.792C>A
ENST00000436873.7:c.312+196C>A
ENST00000524788.2:n.1716C>A
ENST00000524903.2:n.1832C>A
ENST00000528807.2:n.213C>A
ENST00000530040.2:n.479+254C>A
ENST00000533371.6:c.-173C>A ENSP00000437066.1:n.-173C>A
ENST00000534644.6:n.505C>A
ENST00000642892.1:c.-173C>A ENSP00000494165.1:n.-173C>A
ENST00000643439.1:c.*297C>A ENSP00000495849.1:n.*297C>A
ENST00000643479.1:n.586C>A
ENST00000643516.1:c.395+196C>A
ENST00000644151.1:n.1996C>A
ENST00000644218.1:c.557C>A ENSP00000493574.1:p.Pro186His
ENST00000644683.1:c.*10C>A ENSP00000494085.1:n.*10C>A
ENST00000644810.1:c.278C>A ENSP00000495895.1:p.Pro93His
ENST00000644831.1:n.733C>A
ENST00000644933.1:c.-173C>A ENSP00000496133.1:n.-173C>A
ENST00000645020.1:n.1732C>A
ENST00000645285.1:c.-173C>A ENSP00000495058.1:n.-173C>A
ENST00000645331.1:n.923C>A
ENST00000645620.1:c.-173C>A ENSP00000493657.1:n.-173C>A
ENST00000646777.1:n.733C>A
ENST00000647016.1:n.1037C>A
ENST00000647152.1:c.-173C>A ENSP00000495893.1:n.-173C>A
ENST00000647209.1:c.*426C>A ENSP00000495558.1:n.*426C>A
ENST00000647346.1:n.1577C>A
ENST00000299427.10:c.557C>A ENSP00000299427.6:p.Pro186His
ENST00000428886.6:n.726C>A
ENST00000436873.6:c.450+254C>A ENSP00000398136.2:n.450+254C>A
ENST00000524788.1:n.257C>A
ENST00000528571.5:c.*297C>A ENSP00000434647.1:n.*297C>A
ENST00000528807.1:n.107C>A
ENST00000533371.5:c.-173C>A ENSP00000437066.1:n.-173C>A
ENST00000534644.5:n.542C>A
ENST00000611494.4:c.557C>A ENSP00000484546.1:p.Pro186His
NM_000391.3:c.557C>A NP_000382.3:p.Pro186His
NM_000391.4:c.557C>A MANE Select NP_000382.3:p.Pro186His