Canonical Allele Identifier: CA1950238031
Gene: TPP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6617118G= , CM000673.2:g.6617118G= GRCh38
NC_000011.9:g.6638349G= , CM000673.1:g.6638349G= GRCh37
NC_000011.8:g.6594925G= NCBI36
NG_008653.1:g.7344C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000682424.1:c.430C= ENSP00000507321.1:p.Leu144=
ENST00000299427.12:c.544C= MANE Select ENSP00000299427.6:p.Leu182=
ENST00000428886.7:n.779C=
ENST00000436873.7:c.312+183C=
ENST00000524788.2:n.1703C=
ENST00000524903.2:n.1819C=
ENST00000528807.2:n.200C=
ENST00000530040.2:n.479+241C=
ENST00000533371.6:c.-186C= ENSP00000437066.1:n.-186C=
ENST00000534644.6:n.492C=
ENST00000642892.1:c.-186C= ENSP00000494165.1:n.-186C=
ENST00000643439.1:c.*284C= ENSP00000495849.1:n.*284C=
ENST00000643479.1:n.573C=
ENST00000643516.1:c.395+183C=
ENST00000644151.1:n.1983C=
ENST00000644218.1:c.544C= ENSP00000493574.1:p.Leu182=
ENST00000644683.1:c.486C= ENSP00000494085.1:p.Pro162=
ENST00000644810.1:c.265C= ENSP00000495895.1:p.Leu89=
ENST00000644831.1:n.720C=
ENST00000644933.1:c.-186C= ENSP00000496133.1:n.-186C=
ENST00000645020.1:n.1719C=
ENST00000645285.1:c.-186C= ENSP00000495058.1:n.-186C=
ENST00000645331.1:n.910C=
ENST00000645620.1:c.-186C= ENSP00000493657.1:n.-186C=
ENST00000646777.1:n.720C=
ENST00000647016.1:n.1024C=
ENST00000647152.1:c.-186C= ENSP00000495893.1:n.-186C=
ENST00000647209.1:c.*413C= ENSP00000495558.1:n.*413C=
ENST00000647346.1:n.1564C=
ENST00000299427.10:c.544C= ENSP00000299427.6:p.Leu182=
ENST00000428886.6:n.713C=
ENST00000436873.6:c.450+241C= ENSP00000398136.2:n.450+241C=
ENST00000524788.1:n.244C=
ENST00000528571.5:c.*284C= ENSP00000434647.1:n.*284C=
ENST00000528807.1:n.94C=
ENST00000533371.5:c.-186C= ENSP00000437066.1:n.-186C=
ENST00000534644.5:n.529C=
ENST00000611494.4:c.544C= ENSP00000484546.1:p.Leu182=
NM_000391.3:c.544C= NP_000382.3:p.Leu182=
NM_000391.4:c.544C= MANE Select NP_000382.3:p.Leu182=