Canonical Allele Identifier: CA915947963
Gene: TPP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 751768
ClinVar RCV Id: RCV000928864
dbSNP Id: rs1166231114

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6615338C>G , CM000673.2:g.6615338C>G GRCh38
NC_000011.9:g.6636569C>G , CM000673.1:g.6636569C>G GRCh37
NC_000011.8:g.6593145C>G NCBI36
NG_008653.1:g.9124G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000682424.1:c.1153-9G>C ENSP00000507321.1:n.1153-9G>C
ENST00000299427.12:c.1267-9G>C MANE Select ENSP00000299427.6:n.1267-9G>C
ENST00000436873.7:c.504-9G>C
ENST00000524611.2:n.118G>C
ENST00000524924.2:n.387-9G>C
ENST00000533371.6:c.538-9G>C ENSP00000437066.1:n.538-9G>C
ENST00000642892.1:c.538-9G>C ENSP00000494165.1:n.538-9G>C
ENST00000643342.1:c.340-9G>C
ENST00000643439.1:c.*1007-9G>C ENSP00000495849.1:n.*1007-9G>C
ENST00000643479.1:n.1453-9G>C
ENST00000643516.1:c.776-9G>C
ENST00000644218.1:c.1078-9G>C ENSP00000493574.1:n.1078-9G>C
ENST00000644683.1:c.*720-9G>C ENSP00000494085.1:n.*720-9G>C
ENST00000644810.1:c.988-9G>C ENSP00000495895.1:n.988-9G>C
ENST00000644831.1:n.1443-9G>C
ENST00000644933.1:c.*133-9G>C ENSP00000496133.1:n.*133-9G>C
ENST00000645285.1:c.*133-9G>C ENSP00000495058.1:n.*133-9G>C
ENST00000645331.1:n.2472-9G>C
ENST00000645620.1:c.538-9G>C ENSP00000493657.1:n.538-9G>C
ENST00000646691.1:n.1145G>C
ENST00000646777.1:n.1600-9G>C
ENST00000647016.1:n.1747-9G>C
ENST00000647152.1:c.538-9G>C ENSP00000495893.1:n.538-9G>C
ENST00000647209.1:c.*1136-9G>C ENSP00000495558.1:n.*1136-9G>C
ENST00000647346.1:n.2287-9G>C
ENST00000299427.10:c.1267-9G>C ENSP00000299427.6:n.1267-9G>C
ENST00000524611.1:n.136G>C
ENST00000524924.1:n.222-9G>C
ENST00000532191.1:n.320-9G>C
ENST00000533371.5:c.538-9G>C ENSP00000437066.1:n.538-9G>C
ENST00000611494.4:c.1267-9G>C ENSP00000484546.1:n.1267-9G>C
NM_000391.3:c.1267-9G>C NP_000382.3:n.1267-9G>C
NM_000391.4:c.1267-9G>C MANE Select NP_000382.3:n.1267-9G>C