Canonical Allele Identifier: CA319167
Gene: TPP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 207570
ClinVar RCV Id: RCV000189760
dbSNP Id: rs796053436

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6617405C>T , CM000673.2:g.6617405C>T GRCh38
NC_000011.9:g.6638636C>T , CM000673.1:g.6638636C>T GRCh37
NC_000011.8:g.6595212C>T NCBI36
NG_008653.1:g.7057G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000682424.1:c.290G>A ENSP00000507321.1:p.Gly97Glu
ENST00000299427.12:c.404G>A MANE Select ENSP00000299427.6:p.Gly135Glu
ENST00000428886.7:n.492G>A
ENST00000436873.7:c.208G>A
ENST00000524788.2:n.1416G>A
ENST00000524903.2:n.1532G>A
ENST00000528571.6:c.*144G>A ENSP00000434647.1:n.*144G>A
ENST00000528807.2:n.60G>A
ENST00000530040.2:n.433G>A
ENST00000533371.6:c.-326G>A ENSP00000437066.1:n.-326G>A
ENST00000534644.6:n.405G>A
ENST00000642892.1:c.-273G>A ENSP00000494165.1:n.-273G>A
ENST00000643439.1:c.*144G>A ENSP00000495849.1:n.*144G>A
ENST00000643479.1:n.433G>A
ENST00000643516.1:c.291G>A
ENST00000644151.1:n.1696G>A
ENST00000644218.1:c.404G>A ENSP00000493574.1:p.Gly135Glu
ENST00000644683.1:c.404G>A ENSP00000494085.1:p.Gly135Glu
ENST00000644810.1:c.230-252G>A ENSP00000495895.1:n.230-252G>A
ENST00000644831.1:n.433G>A
ENST00000644933.1:c.-326G>A ENSP00000496133.1:n.-326G>A
ENST00000645020.1:n.1432G>A
ENST00000645285.1:c.-326G>A ENSP00000495058.1:n.-326G>A
ENST00000645331.1:n.623G>A
ENST00000645620.1:c.-268G>A ENSP00000493657.1:n.-268G>A
ENST00000646777.1:n.433G>A
ENST00000647016.1:n.737G>A
ENST00000647152.1:c.-326G>A ENSP00000495893.1:n.-326G>A
ENST00000647209.1:c.*273G>A ENSP00000495558.1:n.*273G>A
ENST00000647346.1:n.1424G>A
ENST00000299427.10:c.404G>A ENSP00000299427.6:p.Gly135Glu
ENST00000428886.6:n.426G>A
ENST00000436873.6:c.404G>A ENSP00000398136.2:p.Gly135Glu
ENST00000528571.5:c.*144G>A ENSP00000434647.1:n.*144G>A
ENST00000530040.1:n.516G>A
ENST00000533371.5:c.-326G>A ENSP00000437066.1:n.-326G>A
ENST00000534644.5:n.389G>A
ENST00000611494.4:c.404G>A ENSP00000484546.1:p.Gly135Glu
NM_000391.3:c.404G>A NP_000382.3:p.Gly135Glu
NM_000391.4:c.404G>A MANE Select NP_000382.3:p.Gly135Glu