Canonical Allele Identifier: CA2612257163
Gene: TPP1 HGNC NCBI

Linked Data

gnomAD v4: 11-6615369-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6615369C>G , CM000673.2:g.6615369C>G GRCh38
NC_000011.9:g.6636600C>G , CM000673.1:g.6636600C>G GRCh37
NC_000011.8:g.6593176C>G NCBI36
NG_008653.1:g.9093G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000682424.1:c.1153-40G>C ENSP00000507321.1:n.1153-40G>C
ENST00000299427.12:c.1267-40G>C MANE Select ENSP00000299427.6:n.1267-40G>C
ENST00000436873.7:c.504-40G>C
ENST00000524611.2:n.87G>C
ENST00000524924.2:n.387-40G>C
ENST00000533371.6:c.538-40G>C ENSP00000437066.1:n.538-40G>C
ENST00000642892.1:c.538-40G>C ENSP00000494165.1:n.538-40G>C
ENST00000643342.1:c.340-40G>C
ENST00000643439.1:c.*1007-40G>C ENSP00000495849.1:n.*1007-40G>C
ENST00000643479.1:n.1453-40G>C
ENST00000643516.1:c.776-40G>C
ENST00000644218.1:c.1078-40G>C ENSP00000493574.1:n.1078-40G>C
ENST00000644683.1:c.*720-40G>C ENSP00000494085.1:n.*720-40G>C
ENST00000644810.1:c.988-40G>C ENSP00000495895.1:n.988-40G>C
ENST00000644831.1:n.1443-40G>C
ENST00000644933.1:c.*133-40G>C ENSP00000496133.1:n.*133-40G>C
ENST00000645285.1:c.*133-40G>C ENSP00000495058.1:n.*133-40G>C
ENST00000645331.1:n.2472-40G>C
ENST00000645620.1:c.538-40G>C ENSP00000493657.1:n.538-40G>C
ENST00000646691.1:n.1114G>C
ENST00000646777.1:n.1600-40G>C
ENST00000647016.1:n.1747-40G>C
ENST00000647152.1:c.538-40G>C ENSP00000495893.1:n.538-40G>C
ENST00000647209.1:c.*1136-40G>C ENSP00000495558.1:n.*1136-40G>C
ENST00000647346.1:n.2287-40G>C
ENST00000299427.10:c.1267-40G>C ENSP00000299427.6:n.1267-40G>C
ENST00000524611.1:n.105G>C
ENST00000524924.1:n.222-40G>C
ENST00000532191.1:n.320-40G>C
ENST00000533371.5:c.538-40G>C ENSP00000437066.1:n.538-40G>C
ENST00000611494.4:c.1267-40G>C ENSP00000484546.1:n.1267-40G>C
NM_000391.3:c.1267-40G>C NP_000382.3:n.1267-40G>C
NM_000391.4:c.1267-40G>C MANE Select NP_000382.3:n.1267-40G>C