Canonical Allele Identifier: CA379476136
Gene: TPP1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6617631G>T , CM000673.2:g.6617631G>T GRCh38
NC_000011.9:g.6638862G>T , CM000673.1:g.6638862G>T GRCh37
NC_000011.8:g.6595438G>T NCBI36
NG_008653.1:g.6831C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000682424.1:c.261C>A ENSP00000507321.1:p.Ser87Arg
ENST00000299427.12:c.375C>A MANE Select ENSP00000299427.6:p.Ser125Arg
ENST00000428886.7:n.463C>A
ENST00000436873.7:c.179C>A
ENST00000524788.2:n.1387C>A
ENST00000524903.2:n.1503C>A
ENST00000528571.6:c.*115C>A ENSP00000434647.1:n.*115C>A
ENST00000530040.2:n.404C>A
ENST00000533371.6:c.-355C>A ENSP00000437066.1:n.-355C>A
ENST00000534644.6:n.376C>A
ENST00000642892.1:c.-302C>A ENSP00000494165.1:n.-302C>A
ENST00000643439.1:c.*115C>A ENSP00000495849.1:n.*115C>A
ENST00000643479.1:n.404C>A
ENST00000643516.1:c.262C>A
ENST00000644151.1:n.1667C>A
ENST00000644218.1:c.375C>A ENSP00000493574.1:p.Ser125Arg
ENST00000644683.1:c.375C>A ENSP00000494085.1:p.Ser125Arg
ENST00000644810.1:c.230-478C>A ENSP00000495895.1:n.230-478C>A
ENST00000644831.1:n.404C>A
ENST00000644933.1:c.-355C>A ENSP00000496133.1:n.-355C>A
ENST00000645020.1:n.1403C>A
ENST00000645285.1:c.-355C>A ENSP00000495058.1:n.-355C>A
ENST00000645331.1:n.397C>A
ENST00000645620.1:c.-297C>A ENSP00000493657.1:n.-297C>A
ENST00000646777.1:n.404C>A
ENST00000647016.1:n.708C>A
ENST00000647152.1:c.-355C>A ENSP00000495893.1:n.-355C>A
ENST00000647209.1:c.*244C>A ENSP00000495558.1:n.*244C>A
ENST00000647346.1:n.1395C>A
ENST00000299427.10:c.375C>A ENSP00000299427.6:p.Ser125Arg
ENST00000428886.6:n.397C>A
ENST00000436873.6:c.375C>A ENSP00000398136.2:p.Ser125Arg
ENST00000528571.5:c.*115C>A ENSP00000434647.1:n.*115C>A
ENST00000530040.1:n.487C>A
ENST00000533371.5:c.-355C>A ENSP00000437066.1:n.-355C>A
ENST00000534644.5:n.360C>A
ENST00000611494.4:c.375C>A ENSP00000484546.1:p.Ser125Arg
NM_000391.3:c.375C>A NP_000382.3:p.Ser125Arg
NM_000391.4:c.375C>A MANE Select NP_000382.3:p.Ser125Arg