Canonical Allele Identifier: CA379475387
Gene: TPP1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6617015A>T , CM000673.2:g.6617015A>T GRCh38
NC_000011.9:g.6638246A>T , CM000673.1:g.6638246A>T GRCh37
NC_000011.8:g.6594822A>T NCBI36
NG_008653.1:g.7447T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000682424.1:c.533T>A ENSP00000507321.1:p.Val178Glu
ENST00000299427.12:c.647T>A MANE Select ENSP00000299427.6:p.Val216Glu
ENST00000436873.7:c.312+286T>A
ENST00000524788.2:n.1806T>A
ENST00000524903.2:n.1922T>A
ENST00000528807.2:n.303T>A
ENST00000530040.2:n.479+344T>A
ENST00000533371.6:c.-83T>A ENSP00000437066.1:n.-83T>A
ENST00000534644.6:n.595T>A
ENST00000642892.1:c.-83T>A ENSP00000494165.1:n.-83T>A
ENST00000643439.1:c.*387T>A ENSP00000495849.1:n.*387T>A
ENST00000643479.1:n.676T>A
ENST00000643516.1:c.395+286T>A
ENST00000644151.1:n.2086T>A
ENST00000644218.1:c.647T>A ENSP00000493574.1:p.Val216Glu
ENST00000644683.1:c.*100T>A ENSP00000494085.1:n.*100T>A
ENST00000644810.1:c.368T>A ENSP00000495895.1:p.Val123Glu
ENST00000644831.1:n.823T>A
ENST00000644933.1:c.-83T>A ENSP00000496133.1:n.-83T>A
ENST00000645020.1:n.1822T>A
ENST00000645285.1:c.-83T>A ENSP00000495058.1:n.-83T>A
ENST00000645331.1:n.1013T>A
ENST00000645620.1:c.-83T>A ENSP00000493657.1:n.-83T>A
ENST00000646777.1:n.823T>A
ENST00000647016.1:n.1127T>A
ENST00000647152.1:c.-83T>A ENSP00000495893.1:n.-83T>A
ENST00000647209.1:c.*516T>A ENSP00000495558.1:n.*516T>A
ENST00000647346.1:n.1667T>A
ENST00000299427.10:c.647T>A ENSP00000299427.6:p.Val216Glu
ENST00000428886.6:n.816T>A
ENST00000436873.6:c.450+344T>A ENSP00000398136.2:n.450+344T>A
ENST00000524788.1:n.347T>A
ENST00000528571.5:c.*387T>A ENSP00000434647.1:n.*387T>A
ENST00000528807.1:n.197T>A
ENST00000533371.5:c.-83T>A ENSP00000437066.1:n.-83T>A
ENST00000534644.5:n.632T>A
ENST00000611494.4:c.647T>A ENSP00000484546.1:p.Val216Glu
NM_000391.3:c.647T>A NP_000382.3:p.Val216Glu
NM_000391.4:c.647T>A MANE Select NP_000382.3:p.Val216Glu