Canonical Allele Identifier: CA379476198
Gene: TPP1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6617649A>C , CM000673.2:g.6617649A>C GRCh38
NC_000011.9:g.6638880A>C , CM000673.1:g.6638880A>C GRCh37
NC_000011.8:g.6595456A>C NCBI36
NG_008653.1:g.6813T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000682424.1:c.243T>G ENSP00000507321.1:p.Phe81Leu
ENST00000299427.12:c.357T>G MANE Select ENSP00000299427.6:p.Phe119Leu
ENST00000428886.7:n.445T>G
ENST00000436873.7:c.161T>G
ENST00000524788.2:n.1369T>G
ENST00000524903.2:n.1485T>G
ENST00000528571.6:c.*97T>G ENSP00000434647.1:n.*97T>G
ENST00000530040.2:n.386T>G
ENST00000533371.6:c.-373T>G ENSP00000437066.1:n.-373T>G
ENST00000534644.6:n.358T>G
ENST00000642892.1:c.-320T>G ENSP00000494165.1:n.-320T>G
ENST00000643439.1:c.*97T>G ENSP00000495849.1:n.*97T>G
ENST00000643479.1:n.386T>G
ENST00000643516.1:c.244T>G
ENST00000644151.1:n.1649T>G
ENST00000644218.1:c.357T>G ENSP00000493574.1:p.Phe119Leu
ENST00000644683.1:c.357T>G ENSP00000494085.1:p.Phe119Leu
ENST00000644810.1:c.230-496T>G ENSP00000495895.1:n.230-496T>G
ENST00000644831.1:n.386T>G
ENST00000644933.1:c.-373T>G ENSP00000496133.1:n.-373T>G
ENST00000645020.1:n.1385T>G
ENST00000645285.1:c.-373T>G ENSP00000495058.1:n.-373T>G
ENST00000645331.1:n.379T>G
ENST00000645620.1:c.-315T>G ENSP00000493657.1:n.-315T>G
ENST00000646777.1:n.386T>G
ENST00000647016.1:n.690T>G
ENST00000647152.1:c.-373T>G ENSP00000495893.1:n.-373T>G
ENST00000647209.1:c.*226T>G ENSP00000495558.1:n.*226T>G
ENST00000647346.1:n.1377T>G
ENST00000299427.10:c.357T>G ENSP00000299427.6:p.Phe119Leu
ENST00000428886.6:n.379T>G
ENST00000436873.6:c.357T>G ENSP00000398136.2:p.Phe119Leu
ENST00000528571.5:c.*97T>G ENSP00000434647.1:n.*97T>G
ENST00000530040.1:n.469T>G
ENST00000533371.5:c.-373T>G ENSP00000437066.1:n.-373T>G
ENST00000534644.5:n.342T>G
ENST00000611494.4:c.357T>G ENSP00000484546.1:p.Phe119Leu
NM_000391.3:c.357T>G NP_000382.3:p.Phe119Leu
NM_000391.4:c.357T>G MANE Select NP_000382.3:p.Phe119Leu