Canonical Allele Identifier: CA2612257177
Gene: TPP1 HGNC NCBI

Linked Data

gnomAD v4: 11-6615376-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6615376G>A , CM000673.2:g.6615376G>A GRCh38
NC_000011.9:g.6636607G>A , CM000673.1:g.6636607G>A GRCh37
NC_000011.8:g.6593183G>A NCBI36
NG_008653.1:g.9086C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000682424.1:c.1153-47C>T ENSP00000507321.1:n.1153-47C>T
ENST00000299427.12:c.1267-47C>T MANE Select ENSP00000299427.6:n.1267-47C>T
ENST00000436873.7:c.504-47C>T
ENST00000524611.2:n.80C>T
ENST00000524924.2:n.387-47C>T
ENST00000533371.6:c.538-47C>T ENSP00000437066.1:n.538-47C>T
ENST00000642892.1:c.538-47C>T ENSP00000494165.1:n.538-47C>T
ENST00000643342.1:c.340-47C>T
ENST00000643439.1:c.*1007-47C>T ENSP00000495849.1:n.*1007-47C>T
ENST00000643479.1:n.1453-47C>T
ENST00000643516.1:c.776-47C>T
ENST00000644218.1:c.1078-47C>T ENSP00000493574.1:n.1078-47C>T
ENST00000644683.1:c.*720-47C>T ENSP00000494085.1:n.*720-47C>T
ENST00000644810.1:c.988-47C>T ENSP00000495895.1:n.988-47C>T
ENST00000644831.1:n.1443-47C>T
ENST00000644933.1:c.*133-47C>T ENSP00000496133.1:n.*133-47C>T
ENST00000645285.1:c.*133-47C>T ENSP00000495058.1:n.*133-47C>T
ENST00000645331.1:n.2472-47C>T
ENST00000645620.1:c.538-47C>T ENSP00000493657.1:n.538-47C>T
ENST00000646691.1:n.1107C>T
ENST00000646777.1:n.1600-47C>T
ENST00000647016.1:n.1747-47C>T
ENST00000647152.1:c.538-47C>T ENSP00000495893.1:n.538-47C>T
ENST00000647209.1:c.*1136-47C>T ENSP00000495558.1:n.*1136-47C>T
ENST00000647346.1:n.2287-47C>T
ENST00000299427.10:c.1267-47C>T ENSP00000299427.6:n.1267-47C>T
ENST00000524611.1:n.98C>T
ENST00000524924.1:n.222-47C>T
ENST00000532191.1:n.320-47C>T
ENST00000533371.5:c.538-47C>T ENSP00000437066.1:n.538-47C>T
ENST00000611494.4:c.1267-47C>T ENSP00000484546.1:n.1267-47C>T
NM_000391.3:c.1267-47C>T NP_000382.3:n.1267-47C>T
NM_000391.4:c.1267-47C>T MANE Select NP_000382.3:n.1267-47C>T