Canonical Allele Identifier: CA379476364
Gene: TPP1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6617690C>T , CM000673.2:g.6617690C>T GRCh38
NC_000011.9:g.6638921C>T , CM000673.1:g.6638921C>T GRCh37
NC_000011.8:g.6595497C>T NCBI36
NG_008653.1:g.6772G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000682424.1:c.202G>A ENSP00000507321.1:p.Ala68Thr
ENST00000299427.12:c.316G>A MANE Select ENSP00000299427.6:p.Ala106Thr
ENST00000428886.7:n.404G>A
ENST00000436873.7:c.120G>A
ENST00000524788.2:n.1328G>A
ENST00000524903.2:n.1444G>A
ENST00000528571.6:c.*56G>A ENSP00000434647.1:n.*56G>A
ENST00000530040.2:n.345G>A
ENST00000533371.6:c.-414G>A ENSP00000437066.1:n.-414G>A
ENST00000534644.6:n.317G>A
ENST00000642892.1:c.-361G>A ENSP00000494165.1:n.-361G>A
ENST00000643439.1:c.*56G>A ENSP00000495849.1:n.*56G>A
ENST00000643479.1:n.345G>A
ENST00000643516.1:c.203G>A
ENST00000644151.1:n.1608G>A
ENST00000644218.1:c.316G>A ENSP00000493574.1:p.Ala106Thr
ENST00000644683.1:c.316G>A ENSP00000494085.1:p.Ala106Thr
ENST00000644810.1:c.230-537G>A ENSP00000495895.1:n.230-537G>A
ENST00000644831.1:n.345G>A
ENST00000644933.1:c.-414G>A ENSP00000496133.1:n.-414G>A
ENST00000645020.1:n.1344G>A
ENST00000645285.1:c.-414G>A ENSP00000495058.1:n.-414G>A
ENST00000645331.1:n.338G>A
ENST00000645620.1:c.-356G>A ENSP00000493657.1:n.-356G>A
ENST00000646777.1:n.345G>A
ENST00000647016.1:n.649G>A
ENST00000647152.1:c.-414G>A ENSP00000495893.1:n.-414G>A
ENST00000647209.1:c.*185G>A ENSP00000495558.1:n.*185G>A
ENST00000647346.1:n.1336G>A
ENST00000299427.10:c.316G>A ENSP00000299427.6:p.Ala106Thr
ENST00000428886.6:n.338G>A
ENST00000436873.6:c.316G>A ENSP00000398136.2:p.Ala106Thr
ENST00000528571.5:c.*56G>A ENSP00000434647.1:n.*56G>A
ENST00000530040.1:n.428G>A
ENST00000533371.5:c.-414G>A ENSP00000437066.1:n.-414G>A
ENST00000534644.5:n.301G>A
ENST00000611494.4:c.316G>A ENSP00000484546.1:p.Ala106Thr
NM_000391.3:c.316G>A NP_000382.3:p.Ala106Thr
NM_000391.4:c.316G>A MANE Select NP_000382.3:p.Ala106Thr