Canonical Allele Identifier: CA379475470
Gene: TPP1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6617055A>T , CM000673.2:g.6617055A>T GRCh38
NC_000011.9:g.6638286A>T , CM000673.1:g.6638286A>T GRCh37
NC_000011.8:g.6594862A>T NCBI36
NG_008653.1:g.7407T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000682424.1:c.493T>A ENSP00000507321.1:p.Ser165Thr
ENST00000299427.12:c.607T>A MANE Select ENSP00000299427.6:p.Ser203Thr
ENST00000436873.7:c.312+246T>A
ENST00000524788.2:n.1766T>A
ENST00000524903.2:n.1882T>A
ENST00000528807.2:n.263T>A
ENST00000530040.2:n.479+304T>A
ENST00000533371.6:c.-123T>A ENSP00000437066.1:n.-123T>A
ENST00000534644.6:n.555T>A
ENST00000642892.1:c.-123T>A ENSP00000494165.1:n.-123T>A
ENST00000643439.1:c.*347T>A ENSP00000495849.1:n.*347T>A
ENST00000643479.1:n.636T>A
ENST00000643516.1:c.395+246T>A
ENST00000644151.1:n.2046T>A
ENST00000644218.1:c.607T>A ENSP00000493574.1:p.Ser203Thr
ENST00000644683.1:c.*60T>A ENSP00000494085.1:n.*60T>A
ENST00000644810.1:c.328T>A ENSP00000495895.1:p.Ser110Thr
ENST00000644831.1:n.783T>A
ENST00000644933.1:c.-123T>A ENSP00000496133.1:n.-123T>A
ENST00000645020.1:n.1782T>A
ENST00000645285.1:c.-123T>A ENSP00000495058.1:n.-123T>A
ENST00000645331.1:n.973T>A
ENST00000645620.1:c.-123T>A ENSP00000493657.1:n.-123T>A
ENST00000646777.1:n.783T>A
ENST00000647016.1:n.1087T>A
ENST00000647152.1:c.-123T>A ENSP00000495893.1:n.-123T>A
ENST00000647209.1:c.*476T>A ENSP00000495558.1:n.*476T>A
ENST00000647346.1:n.1627T>A
ENST00000299427.10:c.607T>A ENSP00000299427.6:p.Ser203Thr
ENST00000428886.6:n.776T>A
ENST00000436873.6:c.450+304T>A ENSP00000398136.2:n.450+304T>A
ENST00000524788.1:n.307T>A
ENST00000528571.5:c.*347T>A ENSP00000434647.1:n.*347T>A
ENST00000528807.1:n.157T>A
ENST00000533371.5:c.-123T>A ENSP00000437066.1:n.-123T>A
ENST00000534644.5:n.592T>A
ENST00000611494.4:c.607T>A ENSP00000484546.1:p.Ser203Thr
NM_000391.3:c.607T>A NP_000382.3:p.Ser203Thr
NM_000391.4:c.607T>A MANE Select NP_000382.3:p.Ser203Thr