Canonical Allele Identifier: CA379476006
Gene: TPP1 HGNC NCBI

Linked Data

dbSNP Id: rs1564855637

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6617400C>T , CM000673.2:g.6617400C>T GRCh38
NC_000011.9:g.6638631C>T , CM000673.1:g.6638631C>T GRCh37
NC_000011.8:g.6595207C>T NCBI36
NG_008653.1:g.7062G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000682424.1:c.295G>A ENSP00000507321.1:p.Glu99Lys
ENST00000299427.12:c.409G>A MANE Select ENSP00000299427.6:p.Glu137Lys
ENST00000428886.7:n.497G>A
ENST00000436873.7:c.213G>A
ENST00000524788.2:n.1421G>A
ENST00000524903.2:n.1537G>A
ENST00000528571.6:c.*149G>A ENSP00000434647.1:n.*149G>A
ENST00000528807.2:n.65G>A
ENST00000530040.2:n.438G>A
ENST00000533371.6:c.-321G>A ENSP00000437066.1:n.-321G>A
ENST00000534644.6:n.410G>A
ENST00000642892.1:c.-268G>A ENSP00000494165.1:n.-268G>A
ENST00000643439.1:c.*149G>A ENSP00000495849.1:n.*149G>A
ENST00000643479.1:n.438G>A
ENST00000643516.1:c.296G>A
ENST00000644151.1:n.1701G>A
ENST00000644218.1:c.409G>A ENSP00000493574.1:p.Glu137Lys
ENST00000644683.1:c.409G>A ENSP00000494085.1:p.Glu137Lys
ENST00000644810.1:c.230-247G>A ENSP00000495895.1:n.230-247G>A
ENST00000644831.1:n.438G>A
ENST00000644933.1:c.-321G>A ENSP00000496133.1:n.-321G>A
ENST00000645020.1:n.1437G>A
ENST00000645285.1:c.-321G>A ENSP00000495058.1:n.-321G>A
ENST00000645331.1:n.628G>A
ENST00000645620.1:c.-263G>A ENSP00000493657.1:n.-263G>A
ENST00000646777.1:n.438G>A
ENST00000647016.1:n.742G>A
ENST00000647152.1:c.-321G>A ENSP00000495893.1:n.-321G>A
ENST00000647209.1:c.*278G>A ENSP00000495558.1:n.*278G>A
ENST00000647346.1:n.1429G>A
ENST00000299427.10:c.409G>A ENSP00000299427.6:p.Glu137Lys
ENST00000428886.6:n.431G>A
ENST00000436873.6:c.409G>A ENSP00000398136.2:p.Glu137Lys
ENST00000528571.5:c.*149G>A ENSP00000434647.1:n.*149G>A
ENST00000530040.1:n.521G>A
ENST00000533371.5:c.-321G>A ENSP00000437066.1:n.-321G>A
ENST00000534644.5:n.394G>A
ENST00000611494.4:c.409G>A ENSP00000484546.1:p.Glu137Lys
NM_000391.3:c.409G>A NP_000382.3:p.Glu137Lys
NM_000391.4:c.409G>A MANE Select NP_000382.3:p.Glu137Lys