Canonical Allele Identifier: CA379475466
Gene: TPP1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6617054G>C , CM000673.2:g.6617054G>C GRCh38
NC_000011.9:g.6638285G>C , CM000673.1:g.6638285G>C GRCh37
NC_000011.8:g.6594861G>C NCBI36
NG_008653.1:g.7408C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000682424.1:c.494C>G ENSP00000507321.1:p.Ser165Cys
ENST00000299427.12:c.608C>G MANE Select ENSP00000299427.6:p.Ser203Cys
ENST00000436873.7:c.312+247C>G
ENST00000524788.2:n.1767C>G
ENST00000524903.2:n.1883C>G
ENST00000528807.2:n.264C>G
ENST00000530040.2:n.479+305C>G
ENST00000533371.6:c.-122C>G ENSP00000437066.1:n.-122C>G
ENST00000534644.6:n.556C>G
ENST00000642892.1:c.-122C>G ENSP00000494165.1:n.-122C>G
ENST00000643439.1:c.*348C>G ENSP00000495849.1:n.*348C>G
ENST00000643479.1:n.637C>G
ENST00000643516.1:c.395+247C>G
ENST00000644151.1:n.2047C>G
ENST00000644218.1:c.608C>G ENSP00000493574.1:p.Ser203Cys
ENST00000644683.1:c.*61C>G ENSP00000494085.1:n.*61C>G
ENST00000644810.1:c.329C>G ENSP00000495895.1:p.Ser110Cys
ENST00000644831.1:n.784C>G
ENST00000644933.1:c.-122C>G ENSP00000496133.1:n.-122C>G
ENST00000645020.1:n.1783C>G
ENST00000645285.1:c.-122C>G ENSP00000495058.1:n.-122C>G
ENST00000645331.1:n.974C>G
ENST00000645620.1:c.-122C>G ENSP00000493657.1:n.-122C>G
ENST00000646777.1:n.784C>G
ENST00000647016.1:n.1088C>G
ENST00000647152.1:c.-122C>G ENSP00000495893.1:n.-122C>G
ENST00000647209.1:c.*477C>G ENSP00000495558.1:n.*477C>G
ENST00000647346.1:n.1628C>G
ENST00000299427.10:c.608C>G ENSP00000299427.6:p.Ser203Cys
ENST00000428886.6:n.777C>G
ENST00000436873.6:c.450+305C>G ENSP00000398136.2:n.450+305C>G
ENST00000524788.1:n.308C>G
ENST00000528571.5:c.*348C>G ENSP00000434647.1:n.*348C>G
ENST00000528807.1:n.158C>G
ENST00000533371.5:c.-122C>G ENSP00000437066.1:n.-122C>G
ENST00000534644.5:n.593C>G
ENST00000611494.4:c.608C>G ENSP00000484546.1:p.Ser203Cys
NM_000391.3:c.608C>G NP_000382.3:p.Ser203Cys
NM_000391.4:c.608C>G MANE Select NP_000382.3:p.Ser203Cys