Canonical Allele Identifier: CA379475408
Gene: TPP1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6617025A>C , CM000673.2:g.6617025A>C GRCh38
NC_000011.9:g.6638256A>C , CM000673.1:g.6638256A>C GRCh37
NC_000011.8:g.6594832A>C NCBI36
NG_008653.1:g.7437T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000682424.1:c.523T>G ENSP00000507321.1:p.Ser175Ala
ENST00000299427.12:c.637T>G MANE Select ENSP00000299427.6:p.Ser213Ala
ENST00000436873.7:c.312+276T>G
ENST00000524788.2:n.1796T>G
ENST00000524903.2:n.1912T>G
ENST00000528807.2:n.293T>G
ENST00000530040.2:n.479+334T>G
ENST00000533371.6:c.-93T>G ENSP00000437066.1:n.-93T>G
ENST00000534644.6:n.585T>G
ENST00000642892.1:c.-93T>G ENSP00000494165.1:n.-93T>G
ENST00000643439.1:c.*377T>G ENSP00000495849.1:n.*377T>G
ENST00000643479.1:n.666T>G
ENST00000643516.1:c.395+276T>G
ENST00000644151.1:n.2076T>G
ENST00000644218.1:c.637T>G ENSP00000493574.1:p.Ser213Ala
ENST00000644683.1:c.*90T>G ENSP00000494085.1:n.*90T>G
ENST00000644810.1:c.358T>G ENSP00000495895.1:p.Ser120Ala
ENST00000644831.1:n.813T>G
ENST00000644933.1:c.-93T>G ENSP00000496133.1:n.-93T>G
ENST00000645020.1:n.1812T>G
ENST00000645285.1:c.-93T>G ENSP00000495058.1:n.-93T>G
ENST00000645331.1:n.1003T>G
ENST00000645620.1:c.-93T>G ENSP00000493657.1:n.-93T>G
ENST00000646777.1:n.813T>G
ENST00000647016.1:n.1117T>G
ENST00000647152.1:c.-93T>G ENSP00000495893.1:n.-93T>G
ENST00000647209.1:c.*506T>G ENSP00000495558.1:n.*506T>G
ENST00000647346.1:n.1657T>G
ENST00000299427.10:c.637T>G ENSP00000299427.6:p.Ser213Ala
ENST00000428886.6:n.806T>G
ENST00000436873.6:c.450+334T>G ENSP00000398136.2:n.450+334T>G
ENST00000524788.1:n.337T>G
ENST00000528571.5:c.*377T>G ENSP00000434647.1:n.*377T>G
ENST00000528807.1:n.187T>G
ENST00000533371.5:c.-93T>G ENSP00000437066.1:n.-93T>G
ENST00000534644.5:n.622T>G
ENST00000611494.4:c.637T>G ENSP00000484546.1:p.Ser213Ala
NM_000391.3:c.637T>G NP_000382.3:p.Ser213Ala
NM_000391.4:c.637T>G MANE Select NP_000382.3:p.Ser213Ala