Canonical Allele Identifier: CA379475554
Gene: TPP1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6617097G>T , CM000673.2:g.6617097G>T GRCh38
NC_000011.9:g.6638328G>T , CM000673.1:g.6638328G>T GRCh37
NC_000011.8:g.6594904G>T NCBI36
NG_008653.1:g.7365C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000682424.1:c.451C>A ENSP00000507321.1:p.Gln151Lys
ENST00000299427.12:c.565C>A MANE Select ENSP00000299427.6:p.Gln189Lys
ENST00000428886.7:n.800C>A
ENST00000436873.7:c.312+204C>A
ENST00000524788.2:n.1724C>A
ENST00000524903.2:n.1840C>A
ENST00000528807.2:n.221C>A
ENST00000530040.2:n.479+262C>A
ENST00000533371.6:c.-165C>A ENSP00000437066.1:n.-165C>A
ENST00000534644.6:n.513C>A
ENST00000642892.1:c.-165C>A ENSP00000494165.1:n.-165C>A
ENST00000643439.1:c.*305C>A ENSP00000495849.1:n.*305C>A
ENST00000643479.1:n.594C>A
ENST00000643516.1:c.395+204C>A
ENST00000644151.1:n.2004C>A
ENST00000644218.1:c.565C>A ENSP00000493574.1:p.Gln189Lys
ENST00000644683.1:c.*18C>A ENSP00000494085.1:n.*18C>A
ENST00000644810.1:c.286C>A ENSP00000495895.1:p.Gln96Lys
ENST00000644831.1:n.741C>A
ENST00000644933.1:c.-165C>A ENSP00000496133.1:n.-165C>A
ENST00000645020.1:n.1740C>A
ENST00000645285.1:c.-165C>A ENSP00000495058.1:n.-165C>A
ENST00000645331.1:n.931C>A
ENST00000645620.1:c.-165C>A ENSP00000493657.1:n.-165C>A
ENST00000646777.1:n.741C>A
ENST00000647016.1:n.1045C>A
ENST00000647152.1:c.-165C>A ENSP00000495893.1:n.-165C>A
ENST00000647209.1:c.*434C>A ENSP00000495558.1:n.*434C>A
ENST00000647346.1:n.1585C>A
ENST00000299427.10:c.565C>A ENSP00000299427.6:p.Gln189Lys
ENST00000428886.6:n.734C>A
ENST00000436873.6:c.450+262C>A ENSP00000398136.2:n.450+262C>A
ENST00000524788.1:n.265C>A
ENST00000528571.5:c.*305C>A ENSP00000434647.1:n.*305C>A
ENST00000528807.1:n.115C>A
ENST00000533371.5:c.-165C>A ENSP00000437066.1:n.-165C>A
ENST00000534644.5:n.550C>A
ENST00000611494.4:c.565C>A ENSP00000484546.1:p.Gln189Lys
NM_000391.3:c.565C>A NP_000382.3:p.Gln189Lys
NM_000391.4:c.565C>A MANE Select NP_000382.3:p.Gln189Lys