Canonical Allele Identifier: CA1950216101
Gene: TPP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6618823A= , CM000673.2:g.6618823A= GRCh38
NC_000011.9:g.6640054A= , CM000673.1:g.6640054A= GRCh37
NC_000011.8:g.6596630A= NCBI36
NG_008653.1:g.5639T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000682424.1:c.68T= ENSP00000507321.1:p.Leu23=
ENST00000299427.12:c.182T= MANE Select ENSP00000299427.6:p.Leu61=
ENST00000428886.7:n.270T=
ENST00000524788.2:n.195T=
ENST00000524903.2:n.311T=
ENST00000528571.6:c.89+373T= ENSP00000434647.1:n.89+373T=
ENST00000528657.2:c.*369T= ENSP00000435001.1:n.*369T=
ENST00000530040.2:n.211T=
ENST00000531754.2:c.182T= ENSP00000493706.1:p.Leu61=
ENST00000533371.6:c.-548T= ENSP00000437066.1:n.-548T=
ENST00000534644.6:n.183T=
ENST00000642892.1:c.-495T= ENSP00000494165.1:n.-495T=
ENST00000643439.1:c.89+373T= ENSP00000495849.1:n.89+373T=
ENST00000643479.1:n.211T=
ENST00000643516.1:c.69T=
ENST00000644151.1:n.475T=
ENST00000644218.1:c.182T= ENSP00000493574.1:p.Leu61=
ENST00000644683.1:c.182T= ENSP00000494085.1:p.Leu61=
ENST00000644810.1:c.182T= ENSP00000495895.1:p.Leu61=
ENST00000644831.1:n.211T=
ENST00000644933.1:c.-548T= ENSP00000496133.1:n.-548T=
ENST00000645020.1:n.211T=
ENST00000645285.1:c.-501+373T= ENSP00000495058.1:n.-501+373T=
ENST00000645331.1:n.204T=
ENST00000645620.1:c.-490T= ENSP00000493657.1:n.-490T=
ENST00000646777.1:n.211T=
ENST00000647152.1:c.-501+373T= ENSP00000495893.1:n.-501+373T=
ENST00000647209.1:c.*51T= ENSP00000495558.1:n.*51T=
ENST00000647346.1:n.203T=
ENST00000299427.10:c.182T= ENSP00000299427.6:p.Leu61=
ENST00000428886.6:n.204T=
ENST00000436873.6:c.182T= ENSP00000398136.2:p.Leu61=
ENST00000524903.1:n.279T=
ENST00000528571.5:c.89+373T= ENSP00000434647.1:n.89+373T=
ENST00000528657.1:c.*369T= ENSP00000435001.1:n.*369T=
ENST00000528917.1:n.483T=
ENST00000530040.1:n.294T=
ENST00000531754.1:n.230T=
ENST00000533371.5:c.-548T= ENSP00000437066.1:n.-548T=
ENST00000534644.5:n.214+373T=
ENST00000611494.4:c.182T= ENSP00000484546.1:p.Leu61=
NM_000391.3:c.182T= NP_000382.3:p.Leu61=
NM_000391.4:c.182T= MANE Select NP_000382.3:p.Leu61=