Canonical Allele Identifier: CA379475598
Gene: TPP1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6617120G>C , CM000673.2:g.6617120G>C GRCh38
NC_000011.9:g.6638351G>C , CM000673.1:g.6638351G>C GRCh37
NC_000011.8:g.6594927G>C NCBI36
NG_008653.1:g.7342C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000682424.1:c.428C>G ENSP00000507321.1:p.Ser143Cys
ENST00000299427.12:c.542C>G MANE Select ENSP00000299427.6:p.Ser181Cys
ENST00000428886.7:n.777C>G
ENST00000436873.7:c.312+181C>G
ENST00000524788.2:n.1701C>G
ENST00000524903.2:n.1817C>G
ENST00000528807.2:n.198C>G
ENST00000530040.2:n.479+239C>G
ENST00000533371.6:c.-188C>G ENSP00000437066.1:n.-188C>G
ENST00000534644.6:n.490C>G
ENST00000642892.1:c.-188C>G ENSP00000494165.1:n.-188C>G
ENST00000643439.1:c.*282C>G ENSP00000495849.1:n.*282C>G
ENST00000643479.1:n.571C>G
ENST00000643516.1:c.395+181C>G
ENST00000644151.1:n.1981C>G
ENST00000644218.1:c.542C>G ENSP00000493574.1:p.Ser181Cys
ENST00000644683.1:c.484C>G ENSP00000494085.1:p.Pro162Ala
ENST00000644810.1:c.263C>G ENSP00000495895.1:p.Ser88Cys
ENST00000644831.1:n.718C>G
ENST00000644933.1:c.-188C>G ENSP00000496133.1:n.-188C>G
ENST00000645020.1:n.1717C>G
ENST00000645285.1:c.-188C>G ENSP00000495058.1:n.-188C>G
ENST00000645331.1:n.908C>G
ENST00000645620.1:c.-188C>G ENSP00000493657.1:n.-188C>G
ENST00000646777.1:n.718C>G
ENST00000647016.1:n.1022C>G
ENST00000647152.1:c.-188C>G ENSP00000495893.1:n.-188C>G
ENST00000647209.1:c.*411C>G ENSP00000495558.1:n.*411C>G
ENST00000647346.1:n.1562C>G
ENST00000299427.10:c.542C>G ENSP00000299427.6:p.Ser181Cys
ENST00000428886.6:n.711C>G
ENST00000436873.6:c.450+239C>G ENSP00000398136.2:n.450+239C>G
ENST00000524788.1:n.242C>G
ENST00000528571.5:c.*282C>G ENSP00000434647.1:n.*282C>G
ENST00000528807.1:n.92C>G
ENST00000533371.5:c.-188C>G ENSP00000437066.1:n.-188C>G
ENST00000534644.5:n.527C>G
ENST00000611494.4:c.542C>G ENSP00000484546.1:p.Ser181Cys
NM_000391.3:c.542C>G NP_000382.3:p.Ser181Cys
NM_000391.4:c.542C>G MANE Select NP_000382.3:p.Ser181Cys