Canonical Allele Identifier: CA252379
Gene: TPP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2646
dbSNP Id: rs28940573
gnomAD v2: 11-6638277-G-A
gnomAD v3: 11-6617046-G-A
gnomAD v4: 11-6617046-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6617046G>A , CM000673.2:g.6617046G>A GRCh38
NC_000011.9:g.6638277G>A , CM000673.1:g.6638277G>A GRCh37
NC_000011.8:g.6594853G>A NCBI36
NG_008653.1:g.7416C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000682424.1:c.502C>T ENSP00000507321.1:p.Arg168Cys
ENST00000299427.12:c.616C>T MANE Select ENSP00000299427.6:p.Arg206Cys
ENST00000436873.7:c.312+255C>T
ENST00000524788.2:n.1775C>T
ENST00000524903.2:n.1891C>T
ENST00000528807.2:n.272C>T
ENST00000530040.2:n.479+313C>T
ENST00000533371.6:c.-114C>T ENSP00000437066.1:n.-114C>T
ENST00000534644.6:n.564C>T
ENST00000642892.1:c.-114C>T ENSP00000494165.1:n.-114C>T
ENST00000643439.1:c.*356C>T ENSP00000495849.1:n.*356C>T
ENST00000643479.1:n.645C>T
ENST00000643516.1:c.395+255C>T
ENST00000644151.1:n.2055C>T
ENST00000644218.1:c.616C>T ENSP00000493574.1:p.Arg206Cys
ENST00000644683.1:c.*69C>T ENSP00000494085.1:n.*69C>T
ENST00000644810.1:c.337C>T ENSP00000495895.1:p.Arg113Cys
ENST00000644831.1:n.792C>T
ENST00000644933.1:c.-114C>T ENSP00000496133.1:n.-114C>T
ENST00000645020.1:n.1791C>T
ENST00000645285.1:c.-114C>T ENSP00000495058.1:n.-114C>T
ENST00000645331.1:n.982C>T
ENST00000645620.1:c.-114C>T ENSP00000493657.1:n.-114C>T
ENST00000646777.1:n.792C>T
ENST00000647016.1:n.1096C>T
ENST00000647152.1:c.-114C>T ENSP00000495893.1:n.-114C>T
ENST00000647209.1:c.*485C>T ENSP00000495558.1:n.*485C>T
ENST00000647346.1:n.1636C>T
ENST00000299427.10:c.616C>T ENSP00000299427.6:p.Arg206Cys
ENST00000428886.6:n.785C>T
ENST00000436873.6:c.450+313C>T ENSP00000398136.2:n.450+313C>T
ENST00000524788.1:n.316C>T
ENST00000528571.5:c.*356C>T ENSP00000434647.1:n.*356C>T
ENST00000528807.1:n.166C>T
ENST00000533371.5:c.-114C>T ENSP00000437066.1:n.-114C>T
ENST00000534644.5:n.601C>T
ENST00000611494.4:c.616C>T ENSP00000484546.1:p.Arg206Cys
NM_000391.3:c.616C>T NP_000382.3:p.Arg206Cys
NM_000391.4:c.616C>T MANE Select NP_000382.3:p.Arg206Cys