Canonical Allele Identifier: CA379475446
Gene: TPP1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6617043T>A , CM000673.2:g.6617043T>A GRCh38
NC_000011.9:g.6638274T>A , CM000673.1:g.6638274T>A GRCh37
NC_000011.8:g.6594850T>A NCBI36
NG_008653.1:g.7419A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000682424.1:c.505A>T ENSP00000507321.1:p.Lys169Ter
ENST00000299427.12:c.619A>T MANE Select ENSP00000299427.6:p.Lys207Ter
ENST00000436873.7:c.312+258A>T
ENST00000524788.2:n.1778A>T
ENST00000524903.2:n.1894A>T
ENST00000528807.2:n.275A>T
ENST00000530040.2:n.479+316A>T
ENST00000533371.6:c.-111A>T ENSP00000437066.1:n.-111A>T
ENST00000534644.6:n.567A>T
ENST00000642892.1:c.-111A>T ENSP00000494165.1:n.-111A>T
ENST00000643439.1:c.*359A>T ENSP00000495849.1:n.*359A>T
ENST00000643479.1:n.648A>T
ENST00000643516.1:c.395+258A>T
ENST00000644151.1:n.2058A>T
ENST00000644218.1:c.619A>T ENSP00000493574.1:p.Lys207Ter
ENST00000644683.1:c.*72A>T ENSP00000494085.1:n.*72A>T
ENST00000644810.1:c.340A>T ENSP00000495895.1:p.Lys114Ter
ENST00000644831.1:n.795A>T
ENST00000644933.1:c.-111A>T ENSP00000496133.1:n.-111A>T
ENST00000645020.1:n.1794A>T
ENST00000645285.1:c.-111A>T ENSP00000495058.1:n.-111A>T
ENST00000645331.1:n.985A>T
ENST00000645620.1:c.-111A>T ENSP00000493657.1:n.-111A>T
ENST00000646777.1:n.795A>T
ENST00000647016.1:n.1099A>T
ENST00000647152.1:c.-111A>T ENSP00000495893.1:n.-111A>T
ENST00000647209.1:c.*488A>T ENSP00000495558.1:n.*488A>T
ENST00000647346.1:n.1639A>T
ENST00000299427.10:c.619A>T ENSP00000299427.6:p.Lys207Ter
ENST00000428886.6:n.788A>T
ENST00000436873.6:c.450+316A>T ENSP00000398136.2:n.450+316A>T
ENST00000524788.1:n.319A>T
ENST00000528571.5:c.*359A>T ENSP00000434647.1:n.*359A>T
ENST00000528807.1:n.169A>T
ENST00000533371.5:c.-111A>T ENSP00000437066.1:n.-111A>T
ENST00000534644.5:n.604A>T
ENST00000611494.4:c.619A>T ENSP00000484546.1:p.Lys207Ter
NM_000391.3:c.619A>T NP_000382.3:p.Lys207Ter
NM_000391.4:c.619A>T MANE Select NP_000382.3:p.Lys207Ter