Canonical Allele Identifier: CA472922786
Gene: TPP1 HGNC NCBI

Linked Data

dbSNP Id: rs1334167217
gnomAD v2: 11-6638320-T-C
gnomAD v4: 11-6617089-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6617089T>C , CM000673.2:g.6617089T>C GRCh38
NC_000011.9:g.6638320T>C , CM000673.1:g.6638320T>C GRCh37
NC_000011.8:g.6594896T>C NCBI36
NG_008653.1:g.7373A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000682424.1:c.459A>G ENSP00000507321.1:p.Thr153=
ENST00000299427.12:c.573A>G MANE Select ENSP00000299427.6:p.Thr191=
ENST00000428886.7:n.808A>G
ENST00000436873.7:c.312+212A>G
ENST00000524788.2:n.1732A>G
ENST00000524903.2:n.1848A>G
ENST00000528807.2:n.229A>G
ENST00000530040.2:n.479+270A>G
ENST00000533371.6:c.-157A>G ENSP00000437066.1:n.-157A>G
ENST00000534644.6:n.521A>G
ENST00000642892.1:c.-157A>G ENSP00000494165.1:n.-157A>G
ENST00000643439.1:c.*313A>G ENSP00000495849.1:n.*313A>G
ENST00000643479.1:n.602A>G
ENST00000643516.1:c.395+212A>G
ENST00000644151.1:n.2012A>G
ENST00000644218.1:c.573A>G ENSP00000493574.1:p.Thr191=
ENST00000644683.1:c.*26A>G ENSP00000494085.1:n.*26A>G
ENST00000644810.1:c.294A>G ENSP00000495895.1:p.Thr98=
ENST00000644831.1:n.749A>G
ENST00000644933.1:c.-157A>G ENSP00000496133.1:n.-157A>G
ENST00000645020.1:n.1748A>G
ENST00000645285.1:c.-157A>G ENSP00000495058.1:n.-157A>G
ENST00000645331.1:n.939A>G
ENST00000645620.1:c.-157A>G ENSP00000493657.1:n.-157A>G
ENST00000646777.1:n.749A>G
ENST00000647016.1:n.1053A>G
ENST00000647152.1:c.-157A>G ENSP00000495893.1:n.-157A>G
ENST00000647209.1:c.*442A>G ENSP00000495558.1:n.*442A>G
ENST00000647346.1:n.1593A>G
ENST00000299427.10:c.573A>G ENSP00000299427.6:p.Thr191=
ENST00000428886.6:n.742A>G
ENST00000436873.6:c.450+270A>G ENSP00000398136.2:n.450+270A>G
ENST00000524788.1:n.273A>G
ENST00000528571.5:c.*313A>G ENSP00000434647.1:n.*313A>G
ENST00000528807.1:n.123A>G
ENST00000533371.5:c.-157A>G ENSP00000437066.1:n.-157A>G
ENST00000534644.5:n.558A>G
ENST00000611494.4:c.573A>G ENSP00000484546.1:p.Thr191=
NM_000391.3:c.573A>G NP_000382.3:p.Thr191=
NM_000391.4:c.573A>G MANE Select NP_000382.3:p.Thr191=