Canonical Allele Identifier: CA379476011
Gene: TPP1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6617402G>C , CM000673.2:g.6617402G>C GRCh38
NC_000011.9:g.6638633G>C , CM000673.1:g.6638633G>C GRCh37
NC_000011.8:g.6595209G>C NCBI36
NG_008653.1:g.7060C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000682424.1:c.293C>G ENSP00000507321.1:p.Ala98Gly
ENST00000299427.12:c.407C>G MANE Select ENSP00000299427.6:p.Ala136Gly
ENST00000428886.7:n.495C>G
ENST00000436873.7:c.211C>G
ENST00000524788.2:n.1419C>G
ENST00000524903.2:n.1535C>G
ENST00000528571.6:c.*147C>G ENSP00000434647.1:n.*147C>G
ENST00000528807.2:n.63C>G
ENST00000530040.2:n.436C>G
ENST00000533371.6:c.-323C>G ENSP00000437066.1:n.-323C>G
ENST00000534644.6:n.408C>G
ENST00000642892.1:c.-270C>G ENSP00000494165.1:n.-270C>G
ENST00000643439.1:c.*147C>G ENSP00000495849.1:n.*147C>G
ENST00000643479.1:n.436C>G
ENST00000643516.1:c.294C>G
ENST00000644151.1:n.1699C>G
ENST00000644218.1:c.407C>G ENSP00000493574.1:p.Ala136Gly
ENST00000644683.1:c.407C>G ENSP00000494085.1:p.Ala136Gly
ENST00000644810.1:c.230-249C>G ENSP00000495895.1:n.230-249C>G
ENST00000644831.1:n.436C>G
ENST00000644933.1:c.-323C>G ENSP00000496133.1:n.-323C>G
ENST00000645020.1:n.1435C>G
ENST00000645285.1:c.-323C>G ENSP00000495058.1:n.-323C>G
ENST00000645331.1:n.626C>G
ENST00000645620.1:c.-265C>G ENSP00000493657.1:n.-265C>G
ENST00000646777.1:n.436C>G
ENST00000647016.1:n.740C>G
ENST00000647152.1:c.-323C>G ENSP00000495893.1:n.-323C>G
ENST00000647209.1:c.*276C>G ENSP00000495558.1:n.*276C>G
ENST00000647346.1:n.1427C>G
ENST00000299427.10:c.407C>G ENSP00000299427.6:p.Ala136Gly
ENST00000428886.6:n.429C>G
ENST00000436873.6:c.407C>G ENSP00000398136.2:p.Ala136Gly
ENST00000528571.5:c.*147C>G ENSP00000434647.1:n.*147C>G
ENST00000530040.1:n.519C>G
ENST00000533371.5:c.-323C>G ENSP00000437066.1:n.-323C>G
ENST00000534644.5:n.392C>G
ENST00000611494.4:c.407C>G ENSP00000484546.1:p.Ala136Gly
NM_000391.3:c.407C>G NP_000382.3:p.Ala136Gly
NM_000391.4:c.407C>G MANE Select NP_000382.3:p.Ala136Gly