Canonical Allele Identifier: CA231555
Gene: TPP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 130611
dbSNP Id: rs587780481
gnomAD v2: 11-6638045-G-A
gnomAD v3: 11-6616814-G-A
gnomAD v4: 11-6616814-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6616814G>A , CM000673.2:g.6616814G>A GRCh38
NC_000011.9:g.6638045G>A , CM000673.1:g.6638045G>A GRCh37
NC_000011.8:g.6594621G>A NCBI36
NG_008653.1:g.7648C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000682424.1:c.619C>T ENSP00000507321.1:p.Arg207Cys
ENST00000299427.12:c.733C>T MANE Select ENSP00000299427.6:p.Arg245Cys
ENST00000436873.7:c.312+487C>T
ENST00000524788.2:n.1892C>T
ENST00000524903.2:n.2008C>T
ENST00000528807.2:n.389C>T
ENST00000530040.2:n.480-311C>T
ENST00000533371.6:c.4C>T ENSP00000437066.1:p.Arg2Cys
ENST00000642892.1:c.4C>T ENSP00000494165.1:p.Arg2Cys
ENST00000643439.1:c.*473C>T ENSP00000495849.1:n.*473C>T
ENST00000643479.1:n.762C>T
ENST00000643516.1:c.396-311C>T
ENST00000644151.1:n.2172C>T
ENST00000644218.1:c.733C>T ENSP00000493574.1:p.Arg245Cys
ENST00000644683.1:c.*186C>T ENSP00000494085.1:n.*186C>T
ENST00000644810.1:c.454C>T ENSP00000495895.1:p.Arg152Cys
ENST00000644831.1:n.909C>T
ENST00000644933.1:c.4C>T ENSP00000496133.1:p.Arg2Cys
ENST00000645020.1:n.2023C>T
ENST00000645285.1:c.4C>T ENSP00000495058.1:p.Arg2Cys
ENST00000645331.1:n.1099C>T
ENST00000645620.1:c.4C>T ENSP00000493657.1:p.Arg2Cys
ENST00000646777.1:n.909C>T
ENST00000647016.1:n.1213C>T
ENST00000647152.1:c.4C>T ENSP00000495893.1:p.Arg2Cys
ENST00000647209.1:c.*602C>T ENSP00000495558.1:n.*602C>T
ENST00000647346.1:n.1753C>T
ENST00000299427.10:c.733C>T ENSP00000299427.6:p.Arg245Cys
ENST00000436873.6:c.451-311C>T ENSP00000398136.2:n.451-311C>T
ENST00000524788.1:n.433C>T
ENST00000528807.1:n.283C>T
ENST00000533371.5:c.4C>T ENSP00000437066.1:p.Arg2Cys
ENST00000611494.4:c.733C>T ENSP00000484546.1:p.Arg245Cys
NM_000391.3:c.733C>T NP_000382.3:p.Arg245Cys
NM_000391.4:c.733C>T MANE Select NP_000382.3:p.Arg245Cys