Canonical Allele Identifier: CA472923003
Gene: TPP1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.6638605A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6617374A>C , CM000673.2:g.6617374A>C GRCh38
NC_000011.9:g.6638605A>C , CM000673.1:g.6638605A>C GRCh37
NC_000011.8:g.6595181A>C NCBI36
NG_008653.1:g.7088T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000682424.1:c.321T>G ENSP00000507321.1:p.Pro107=
ENST00000299427.12:c.435T>G MANE Select ENSP00000299427.6:p.Pro145=
ENST00000428886.7:n.523T>G
ENST00000436873.7:c.239T>G
ENST00000524788.2:n.1447T>G
ENST00000524903.2:n.1563T>G
ENST00000528571.6:c.*175T>G ENSP00000434647.1:n.*175T>G
ENST00000528807.2:n.91T>G
ENST00000530040.2:n.464T>G
ENST00000533371.6:c.-295T>G ENSP00000437066.1:n.-295T>G
ENST00000534644.6:n.436T>G
ENST00000642892.1:c.-242T>G ENSP00000494165.1:n.-242T>G
ENST00000643439.1:c.*175T>G ENSP00000495849.1:n.*175T>G
ENST00000643479.1:n.464T>G
ENST00000643516.1:c.322T>G
ENST00000644151.1:n.1727T>G
ENST00000644218.1:c.435T>G ENSP00000493574.1:p.Pro145=
ENST00000644683.1:c.435T>G ENSP00000494085.1:p.Pro145=
ENST00000644810.1:c.230-221T>G ENSP00000495895.1:n.230-221T>G
ENST00000644831.1:n.464T>G
ENST00000644933.1:c.-295T>G ENSP00000496133.1:n.-295T>G
ENST00000645020.1:n.1463T>G
ENST00000645285.1:c.-295T>G ENSP00000495058.1:n.-295T>G
ENST00000645331.1:n.654T>G
ENST00000645620.1:c.-237T>G ENSP00000493657.1:n.-237T>G
ENST00000646777.1:n.464T>G
ENST00000647016.1:n.768T>G
ENST00000647152.1:c.-295T>G ENSP00000495893.1:n.-295T>G
ENST00000647209.1:c.*304T>G ENSP00000495558.1:n.*304T>G
ENST00000647346.1:n.1455T>G
ENST00000299427.10:c.435T>G ENSP00000299427.6:p.Pro145=
ENST00000428886.6:n.457T>G
ENST00000436873.6:c.435T>G ENSP00000398136.2:p.Pro145=
ENST00000528571.5:c.*175T>G ENSP00000434647.1:n.*175T>G
ENST00000530040.1:n.547T>G
ENST00000533371.5:c.-295T>G ENSP00000437066.1:n.-295T>G
ENST00000534644.5:n.420T>G
ENST00000611494.4:c.435T>G ENSP00000484546.1:p.Pro145=
NM_000391.3:c.435T>G NP_000382.3:p.Pro145=
NM_000391.4:c.435T>G MANE Select NP_000382.3:p.Pro145=