Canonical Allele Identifier: CA379475499
Gene: TPP1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6617071A>C , CM000673.2:g.6617071A>C GRCh38
NC_000011.9:g.6638302A>C , CM000673.1:g.6638302A>C GRCh37
NC_000011.8:g.6594878A>C NCBI36
NG_008653.1:g.7391T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000682424.1:c.477T>G ENSP00000507321.1:p.His159Gln
ENST00000299427.12:c.591T>G MANE Select ENSP00000299427.6:p.His197Gln
ENST00000428886.7:n.826T>G
ENST00000436873.7:c.312+230T>G
ENST00000524788.2:n.1750T>G
ENST00000524903.2:n.1866T>G
ENST00000528807.2:n.247T>G
ENST00000530040.2:n.479+288T>G
ENST00000533371.6:c.-139T>G ENSP00000437066.1:n.-139T>G
ENST00000534644.6:n.539T>G
ENST00000642892.1:c.-139T>G ENSP00000494165.1:n.-139T>G
ENST00000643439.1:c.*331T>G ENSP00000495849.1:n.*331T>G
ENST00000643479.1:n.620T>G
ENST00000643516.1:c.395+230T>G
ENST00000644151.1:n.2030T>G
ENST00000644218.1:c.591T>G ENSP00000493574.1:p.His197Gln
ENST00000644683.1:c.*44T>G ENSP00000494085.1:n.*44T>G
ENST00000644810.1:c.312T>G ENSP00000495895.1:p.His104Gln
ENST00000644831.1:n.767T>G
ENST00000644933.1:c.-139T>G ENSP00000496133.1:n.-139T>G
ENST00000645020.1:n.1766T>G
ENST00000645285.1:c.-139T>G ENSP00000495058.1:n.-139T>G
ENST00000645331.1:n.957T>G
ENST00000645620.1:c.-139T>G ENSP00000493657.1:n.-139T>G
ENST00000646777.1:n.767T>G
ENST00000647016.1:n.1071T>G
ENST00000647152.1:c.-139T>G ENSP00000495893.1:n.-139T>G
ENST00000647209.1:c.*460T>G ENSP00000495558.1:n.*460T>G
ENST00000647346.1:n.1611T>G
ENST00000299427.10:c.591T>G ENSP00000299427.6:p.His197Gln
ENST00000428886.6:n.760T>G
ENST00000436873.6:c.450+288T>G ENSP00000398136.2:n.450+288T>G
ENST00000524788.1:n.291T>G
ENST00000528571.5:c.*331T>G ENSP00000434647.1:n.*331T>G
ENST00000528807.1:n.141T>G
ENST00000533371.5:c.-139T>G ENSP00000437066.1:n.-139T>G
ENST00000534644.5:n.576T>G
ENST00000611494.4:c.591T>G ENSP00000484546.1:p.His197Gln
NM_000391.3:c.591T>G NP_000382.3:p.His197Gln
NM_000391.4:c.591T>G MANE Select NP_000382.3:p.His197Gln