Canonical Allele Identifier: CA379475551
Gene: TPP1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6617096T>A , CM000673.2:g.6617096T>A GRCh38
NC_000011.9:g.6638327T>A , CM000673.1:g.6638327T>A GRCh37
NC_000011.8:g.6594903T>A NCBI36
NG_008653.1:g.7366A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000682424.1:c.452A>T ENSP00000507321.1:p.Gln151Leu
ENST00000299427.12:c.566A>T MANE Select ENSP00000299427.6:p.Gln189Leu
ENST00000428886.7:n.801A>T
ENST00000436873.7:c.312+205A>T
ENST00000524788.2:n.1725A>T
ENST00000524903.2:n.1841A>T
ENST00000528807.2:n.222A>T
ENST00000530040.2:n.479+263A>T
ENST00000533371.6:c.-164A>T ENSP00000437066.1:n.-164A>T
ENST00000534644.6:n.514A>T
ENST00000642892.1:c.-164A>T ENSP00000494165.1:n.-164A>T
ENST00000643439.1:c.*306A>T ENSP00000495849.1:n.*306A>T
ENST00000643479.1:n.595A>T
ENST00000643516.1:c.395+205A>T
ENST00000644151.1:n.2005A>T
ENST00000644218.1:c.566A>T ENSP00000493574.1:p.Gln189Leu
ENST00000644683.1:c.*19A>T ENSP00000494085.1:n.*19A>T
ENST00000644810.1:c.287A>T ENSP00000495895.1:p.Gln96Leu
ENST00000644831.1:n.742A>T
ENST00000644933.1:c.-164A>T ENSP00000496133.1:n.-164A>T
ENST00000645020.1:n.1741A>T
ENST00000645285.1:c.-164A>T ENSP00000495058.1:n.-164A>T
ENST00000645331.1:n.932A>T
ENST00000645620.1:c.-164A>T ENSP00000493657.1:n.-164A>T
ENST00000646777.1:n.742A>T
ENST00000647016.1:n.1046A>T
ENST00000647152.1:c.-164A>T ENSP00000495893.1:n.-164A>T
ENST00000647209.1:c.*435A>T ENSP00000495558.1:n.*435A>T
ENST00000647346.1:n.1586A>T
ENST00000299427.10:c.566A>T ENSP00000299427.6:p.Gln189Leu
ENST00000428886.6:n.735A>T
ENST00000436873.6:c.450+263A>T ENSP00000398136.2:n.450+263A>T
ENST00000524788.1:n.266A>T
ENST00000528571.5:c.*306A>T ENSP00000434647.1:n.*306A>T
ENST00000528807.1:n.116A>T
ENST00000533371.5:c.-164A>T ENSP00000437066.1:n.-164A>T
ENST00000534644.5:n.551A>T
ENST00000611494.4:c.566A>T ENSP00000484546.1:p.Gln189Leu
NM_000391.3:c.566A>T NP_000382.3:p.Gln189Leu
NM_000391.4:c.566A>T MANE Select NP_000382.3:p.Gln189Leu