Canonical Allele Identifier: CA379472097
Gene: TPP1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6614627G>T , CM000673.2:g.6614627G>T GRCh38
NC_000011.9:g.6635858G>T , CM000673.1:g.6635858G>T GRCh37
NC_000011.8:g.6592434G>T NCBI36
NG_008653.1:g.9835C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000682424.1:c.1497C>A ENSP00000507321.1:p.Cys499Ter
ENST00000299427.12:c.1611C>A MANE Select ENSP00000299427.6:p.Cys537Ter
ENST00000524611.2:n.650C>A
ENST00000524924.2:n.731C>A
ENST00000533371.6:c.882C>A ENSP00000437066.1:p.Cys294Ter
ENST00000642892.1:c.882C>A ENSP00000494165.1:p.Cys294Ter
ENST00000643342.1:c.684C>A
ENST00000643439.1:c.*1351C>A ENSP00000495849.1:n.*1351C>A
ENST00000643479.1:n.1797C>A
ENST00000643516.1:c.1120C>A
ENST00000644218.1:c.1422C>A ENSP00000493574.1:p.Cys474Ter
ENST00000644683.1:c.*1064C>A ENSP00000494085.1:n.*1064C>A
ENST00000644810.1:c.1332C>A ENSP00000495895.1:p.Cys444Ter
ENST00000644831.1:n.1787C>A
ENST00000644933.1:c.*477C>A ENSP00000496133.1:n.*477C>A
ENST00000645285.1:c.*477C>A ENSP00000495058.1:n.*477C>A
ENST00000645331.1:n.2816C>A
ENST00000645620.1:c.882C>A ENSP00000493657.1:p.Cys294Ter
ENST00000646691.1:n.1498C>A
ENST00000646777.1:n.1944C>A
ENST00000647016.1:n.2091C>A
ENST00000647152.1:c.882C>A ENSP00000495893.1:p.Cys294Ter
ENST00000647209.1:c.*1480C>A ENSP00000495558.1:n.*1480C>A
ENST00000647346.1:n.2631C>A
ENST00000299427.10:c.1611C>A ENSP00000299427.6:p.Cys537Ter
ENST00000533371.5:c.882C>A ENSP00000437066.1:p.Cys294Ter
ENST00000611494.4:c.1611C>A ENSP00000484546.1:p.Cys537Ter
NM_000391.3:c.1611C>A NP_000382.3:p.Cys537Ter
NM_000391.4:c.1611C>A MANE Select NP_000382.3:p.Cys537Ter