Canonical Allele Identifier: CA379476534
Gene: TPP1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6617736C>A , CM000673.2:g.6617736C>A GRCh38
NC_000011.9:g.6638967C>A , CM000673.1:g.6638967C>A GRCh37
NC_000011.8:g.6595543C>A NCBI36
NG_008653.1:g.6726G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000682424.1:c.156G>T ENSP00000507321.1:p.Arg52Ser
ENST00000299427.12:c.270G>T MANE Select ENSP00000299427.6:p.Arg90Ser
ENST00000428886.7:n.358G>T
ENST00000436873.7:c.74G>T
ENST00000524788.2:n.1282G>T
ENST00000524903.2:n.1398G>T
ENST00000528571.6:c.*10G>T ENSP00000434647.1:n.*10G>T
ENST00000530040.2:n.299G>T
ENST00000533371.6:c.-460G>T ENSP00000437066.1:n.-460G>T
ENST00000534644.6:n.271G>T
ENST00000642892.1:c.-407G>T ENSP00000494165.1:n.-407G>T
ENST00000643439.1:c.*10G>T ENSP00000495849.1:n.*10G>T
ENST00000643479.1:n.299G>T
ENST00000643516.1:c.157G>T
ENST00000644151.1:n.1562G>T
ENST00000644218.1:c.270G>T ENSP00000493574.1:p.Arg90Ser
ENST00000644683.1:c.270G>T ENSP00000494085.1:p.Arg90Ser
ENST00000644810.1:c.230-583G>T ENSP00000495895.1:n.230-583G>T
ENST00000644831.1:n.299G>T
ENST00000644933.1:c.-460G>T ENSP00000496133.1:n.-460G>T
ENST00000645020.1:n.1298G>T
ENST00000645285.1:c.-460G>T ENSP00000495058.1:n.-460G>T
ENST00000645331.1:n.292G>T
ENST00000645620.1:c.-402G>T ENSP00000493657.1:n.-402G>T
ENST00000646777.1:n.299G>T
ENST00000647016.1:n.603G>T
ENST00000647152.1:c.-460G>T ENSP00000495893.1:n.-460G>T
ENST00000647209.1:c.*139G>T ENSP00000495558.1:n.*139G>T
ENST00000647346.1:n.1290G>T
ENST00000299427.10:c.270G>T ENSP00000299427.6:p.Arg90Ser
ENST00000428886.6:n.292G>T
ENST00000436873.6:c.270G>T ENSP00000398136.2:p.Arg90Ser
ENST00000528571.5:c.*10G>T ENSP00000434647.1:n.*10G>T
ENST00000530040.1:n.382G>T
ENST00000533371.5:c.-460G>T ENSP00000437066.1:n.-460G>T
ENST00000534644.5:n.255G>T
ENST00000611494.4:c.270G>T ENSP00000484546.1:p.Arg90Ser
NM_000391.3:c.270G>T NP_000382.3:p.Arg90Ser
NM_000391.4:c.270G>T MANE Select NP_000382.3:p.Arg90Ser