Canonical Allele Identifier: CA379476023
Gene: TPP1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6617406C>T , CM000673.2:g.6617406C>T GRCh38
NC_000011.9:g.6638637C>T , CM000673.1:g.6638637C>T GRCh37
NC_000011.8:g.6595213C>T NCBI36
NG_008653.1:g.7056G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000682424.1:c.289G>A ENSP00000507321.1:p.Gly97Arg
ENST00000299427.12:c.403G>A MANE Select ENSP00000299427.6:p.Gly135Arg
ENST00000428886.7:n.491G>A
ENST00000436873.7:c.207G>A
ENST00000524788.2:n.1415G>A
ENST00000524903.2:n.1531G>A
ENST00000528571.6:c.*143G>A ENSP00000434647.1:n.*143G>A
ENST00000528807.2:n.59G>A
ENST00000530040.2:n.432G>A
ENST00000533371.6:c.-327G>A ENSP00000437066.1:n.-327G>A
ENST00000534644.6:n.404G>A
ENST00000642892.1:c.-274G>A ENSP00000494165.1:n.-274G>A
ENST00000643439.1:c.*143G>A ENSP00000495849.1:n.*143G>A
ENST00000643479.1:n.432G>A
ENST00000643516.1:c.290G>A
ENST00000644151.1:n.1695G>A
ENST00000644218.1:c.403G>A ENSP00000493574.1:p.Gly135Arg
ENST00000644683.1:c.403G>A ENSP00000494085.1:p.Gly135Arg
ENST00000644810.1:c.230-253G>A ENSP00000495895.1:n.230-253G>A
ENST00000644831.1:n.432G>A
ENST00000644933.1:c.-327G>A ENSP00000496133.1:n.-327G>A
ENST00000645020.1:n.1431G>A
ENST00000645285.1:c.-327G>A ENSP00000495058.1:n.-327G>A
ENST00000645331.1:n.622G>A
ENST00000645620.1:c.-269G>A ENSP00000493657.1:n.-269G>A
ENST00000646777.1:n.432G>A
ENST00000647016.1:n.736G>A
ENST00000647152.1:c.-327G>A ENSP00000495893.1:n.-327G>A
ENST00000647209.1:c.*272G>A ENSP00000495558.1:n.*272G>A
ENST00000647346.1:n.1423G>A
ENST00000299427.10:c.403G>A ENSP00000299427.6:p.Gly135Arg
ENST00000428886.6:n.425G>A
ENST00000436873.6:c.403G>A ENSP00000398136.2:p.Gly135Arg
ENST00000528571.5:c.*143G>A ENSP00000434647.1:n.*143G>A
ENST00000530040.1:n.515G>A
ENST00000533371.5:c.-327G>A ENSP00000437066.1:n.-327G>A
ENST00000534644.5:n.388G>A
ENST00000611494.4:c.403G>A ENSP00000484546.1:p.Gly135Arg
NM_000391.3:c.403G>A NP_000382.3:p.Gly135Arg
NM_000391.4:c.403G>A MANE Select NP_000382.3:p.Gly135Arg