Canonical Allele Identifier: CA379475834
Gene: TPP1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6617354C>A , CM000673.2:g.6617354C>A GRCh38
NC_000011.9:g.6638585C>A , CM000673.1:g.6638585C>A GRCh37
NC_000011.8:g.6595161C>A NCBI36
NG_008653.1:g.7108G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000682424.1:c.341G>T ENSP00000507321.1:p.Arg114Met
ENST00000299427.12:c.455G>T MANE Select ENSP00000299427.6:p.Arg152Met
ENST00000428886.7:n.543G>T
ENST00000436873.7:c.259G>T
ENST00000524788.2:n.1467G>T
ENST00000524903.2:n.1583G>T
ENST00000528571.6:c.*195G>T ENSP00000434647.1:n.*195G>T
ENST00000528807.2:n.111G>T
ENST00000530040.2:n.479+5G>T
ENST00000533371.6:c.-275G>T ENSP00000437066.1:n.-275G>T
ENST00000534644.6:n.456G>T
ENST00000642892.1:c.-222G>T ENSP00000494165.1:n.-222G>T
ENST00000643439.1:c.*195G>T ENSP00000495849.1:n.*195G>T
ENST00000643479.1:n.484G>T
ENST00000643516.1:c.342G>T
ENST00000644151.1:n.1747G>T
ENST00000644218.1:c.455G>T ENSP00000493574.1:p.Arg152Met
ENST00000644683.1:c.450+5G>T ENSP00000494085.1:n.450+5G>T
ENST00000644810.1:c.230-201G>T ENSP00000495895.1:n.230-201G>T
ENST00000644831.1:n.484G>T
ENST00000644933.1:c.-275G>T ENSP00000496133.1:n.-275G>T
ENST00000645020.1:n.1483G>T
ENST00000645285.1:c.-275G>T ENSP00000495058.1:n.-275G>T
ENST00000645331.1:n.674G>T
ENST00000645620.1:c.-222+5G>T ENSP00000493657.1:n.-222+5G>T
ENST00000646777.1:n.484G>T
ENST00000647016.1:n.788G>T
ENST00000647152.1:c.-275G>T ENSP00000495893.1:n.-275G>T
ENST00000647209.1:c.*324G>T ENSP00000495558.1:n.*324G>T
ENST00000647346.1:n.1475G>T
ENST00000299427.10:c.455G>T ENSP00000299427.6:p.Arg152Met
ENST00000428886.6:n.477G>T
ENST00000436873.6:c.450+5G>T ENSP00000398136.2:n.450+5G>T
ENST00000524788.1:n.8G>T
ENST00000528571.5:c.*195G>T ENSP00000434647.1:n.*195G>T
ENST00000533371.5:c.-275G>T ENSP00000437066.1:n.-275G>T
ENST00000534644.5:n.440G>T
ENST00000611494.4:c.455G>T ENSP00000484546.1:p.Arg152Met
NM_000391.3:c.455G>T NP_000382.3:p.Arg152Met
NM_000391.4:c.455G>T MANE Select NP_000382.3:p.Arg152Met