Canonical Allele Identifier: CA379472160
Gene: TPP1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6614654A>T , CM000673.2:g.6614654A>T GRCh38
NC_000011.9:g.6635885A>T , CM000673.1:g.6635885A>T GRCh37
NC_000011.8:g.6592461A>T NCBI36
NG_008653.1:g.9808T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000682424.1:c.1470T>A ENSP00000507321.1:p.Asp490Glu
ENST00000299427.12:c.1584T>A MANE Select ENSP00000299427.6:p.Asp528Glu
ENST00000524611.2:n.623T>A
ENST00000524924.2:n.704T>A
ENST00000533371.6:c.855T>A ENSP00000437066.1:p.Asp285Glu
ENST00000642892.1:c.855T>A ENSP00000494165.1:p.Asp285Glu
ENST00000643342.1:c.657T>A
ENST00000643439.1:c.*1324T>A ENSP00000495849.1:n.*1324T>A
ENST00000643479.1:n.1770T>A
ENST00000643516.1:c.1093T>A
ENST00000644218.1:c.1395T>A ENSP00000493574.1:p.Asp465Glu
ENST00000644683.1:c.*1037T>A ENSP00000494085.1:n.*1037T>A
ENST00000644810.1:c.1305T>A ENSP00000495895.1:p.Asp435Glu
ENST00000644831.1:n.1760T>A
ENST00000644933.1:c.*450T>A ENSP00000496133.1:n.*450T>A
ENST00000645285.1:c.*450T>A ENSP00000495058.1:n.*450T>A
ENST00000645331.1:n.2789T>A
ENST00000645620.1:c.855T>A ENSP00000493657.1:p.Asp285Glu
ENST00000646691.1:n.1471T>A
ENST00000646777.1:n.1917T>A
ENST00000647016.1:n.2064T>A
ENST00000647152.1:c.855T>A ENSP00000495893.1:p.Asp285Glu
ENST00000647209.1:c.*1453T>A ENSP00000495558.1:n.*1453T>A
ENST00000647346.1:n.2604T>A
ENST00000299427.10:c.1584T>A ENSP00000299427.6:p.Asp528Glu
ENST00000524611.1:n.462T>A
ENST00000533371.5:c.855T>A ENSP00000437066.1:p.Asp285Glu
ENST00000611494.4:c.1584T>A ENSP00000484546.1:p.Asp528Glu
NM_000391.3:c.1584T>A NP_000382.3:p.Asp528Glu
NM_000391.4:c.1584T>A MANE Select NP_000382.3:p.Asp528Glu