Canonical Allele Identifier: CA379475423
Gene: TPP1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6617032G>T , CM000673.2:g.6617032G>T GRCh38
NC_000011.9:g.6638263G>T , CM000673.1:g.6638263G>T GRCh37
NC_000011.8:g.6594839G>T NCBI36
NG_008653.1:g.7430C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000682424.1:c.516C>A ENSP00000507321.1:p.Asn172Lys
ENST00000299427.12:c.630C>A MANE Select ENSP00000299427.6:p.Asn210Lys
ENST00000436873.7:c.312+269C>A
ENST00000524788.2:n.1789C>A
ENST00000524903.2:n.1905C>A
ENST00000528807.2:n.286C>A
ENST00000530040.2:n.479+327C>A
ENST00000533371.6:c.-100C>A ENSP00000437066.1:n.-100C>A
ENST00000534644.6:n.578C>A
ENST00000642892.1:c.-100C>A ENSP00000494165.1:n.-100C>A
ENST00000643439.1:c.*370C>A ENSP00000495849.1:n.*370C>A
ENST00000643479.1:n.659C>A
ENST00000643516.1:c.395+269C>A
ENST00000644151.1:n.2069C>A
ENST00000644218.1:c.630C>A ENSP00000493574.1:p.Asn210Lys
ENST00000644683.1:c.*83C>A ENSP00000494085.1:n.*83C>A
ENST00000644810.1:c.351C>A ENSP00000495895.1:p.Asn117Lys
ENST00000644831.1:n.806C>A
ENST00000644933.1:c.-100C>A ENSP00000496133.1:n.-100C>A
ENST00000645020.1:n.1805C>A
ENST00000645285.1:c.-100C>A ENSP00000495058.1:n.-100C>A
ENST00000645331.1:n.996C>A
ENST00000645620.1:c.-100C>A ENSP00000493657.1:n.-100C>A
ENST00000646777.1:n.806C>A
ENST00000647016.1:n.1110C>A
ENST00000647152.1:c.-100C>A ENSP00000495893.1:n.-100C>A
ENST00000647209.1:c.*499C>A ENSP00000495558.1:n.*499C>A
ENST00000647346.1:n.1650C>A
ENST00000299427.10:c.630C>A ENSP00000299427.6:p.Asn210Lys
ENST00000428886.6:n.799C>A
ENST00000436873.6:c.450+327C>A ENSP00000398136.2:n.450+327C>A
ENST00000524788.1:n.330C>A
ENST00000528571.5:c.*370C>A ENSP00000434647.1:n.*370C>A
ENST00000528807.1:n.180C>A
ENST00000533371.5:c.-100C>A ENSP00000437066.1:n.-100C>A
ENST00000534644.5:n.615C>A
ENST00000611494.4:c.630C>A ENSP00000484546.1:p.Asn210Lys
NM_000391.3:c.630C>A NP_000382.3:p.Asn210Lys
NM_000391.4:c.630C>A MANE Select NP_000382.3:p.Asn210Lys