Canonical Allele Identifier: CA1950238169
Gene: TPP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6617153A= , CM000673.2:g.6617153A= GRCh38
NC_000011.9:g.6638384A= , CM000673.1:g.6638384A= GRCh37
NC_000011.8:g.6594960A= NCBI36
NG_008653.1:g.7309T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000682424.1:c.395T= ENSP00000507321.1:p.Val132=
ENST00000299427.12:c.509T= MANE Select ENSP00000299427.6:p.Val170=
ENST00000428886.7:n.744T=
ENST00000436873.7:c.312+148T=
ENST00000524788.2:n.1668T=
ENST00000524903.2:n.1784T=
ENST00000528807.2:n.165T=
ENST00000530040.2:n.479+206T=
ENST00000533371.6:c.-221T= ENSP00000437066.1:n.-221T=
ENST00000534644.6:n.457T=
ENST00000642892.1:c.-221T= ENSP00000494165.1:n.-221T=
ENST00000643439.1:c.*249T= ENSP00000495849.1:n.*249T=
ENST00000643479.1:n.538T=
ENST00000643516.1:c.395+148T=
ENST00000644151.1:n.1948T=
ENST00000644218.1:c.509T= ENSP00000493574.1:p.Val170=
ENST00000644683.1:c.451T= ENSP00000494085.1:p.Trp151=
ENST00000644810.1:c.230T= ENSP00000495895.1:p.Val77=
ENST00000644831.1:n.685T=
ENST00000644933.1:c.-221T= ENSP00000496133.1:n.-221T=
ENST00000645020.1:n.1684T=
ENST00000645285.1:c.-221T= ENSP00000495058.1:n.-221T=
ENST00000645331.1:n.875T=
ENST00000645620.1:c.-221T= ENSP00000493657.1:n.-221T=
ENST00000646777.1:n.685T=
ENST00000647016.1:n.989T=
ENST00000647152.1:c.-221T= ENSP00000495893.1:n.-221T=
ENST00000647209.1:c.*378T= ENSP00000495558.1:n.*378T=
ENST00000647346.1:n.1529T=
ENST00000299427.10:c.509T= ENSP00000299427.6:p.Val170=
ENST00000428886.6:n.678T=
ENST00000436873.6:c.450+206T= ENSP00000398136.2:n.450+206T=
ENST00000524788.1:n.209T=
ENST00000528571.5:c.*249T= ENSP00000434647.1:n.*249T=
ENST00000528807.1:n.59T=
ENST00000533371.5:c.-221T= ENSP00000437066.1:n.-221T=
ENST00000534644.5:n.494T=
ENST00000611494.4:c.509T= ENSP00000484546.1:p.Val170=
NM_000391.3:c.509T= NP_000382.3:p.Val170=
NM_000391.4:c.509T= MANE Select NP_000382.3:p.Val170=