Canonical Allele Identifier: CA5858785
Gene: TPP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 382690
dbSNP Id: rs145966505
gnomAD v2: 11-6637563-G-T
gnomAD v3: 11-6616332-G-T
gnomAD v4: 11-6616332-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6616332G>T , CM000673.2:g.6616332G>T GRCh38
NC_000011.9:g.6637563G>T , CM000673.1:g.6637563G>T GRCh37
NC_000011.8:g.6594139G>T NCBI36
NG_008653.1:g.8130C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000682424.1:c.944C>A ENSP00000507321.1:p.Thr315Asn
ENST00000299427.12:c.1058C>A MANE Select ENSP00000299427.6:p.Thr353Asn
ENST00000436873.7:c.313-258C>A
ENST00000533371.6:c.329C>A ENSP00000437066.1:p.Thr110Asn
ENST00000642892.1:c.329C>A ENSP00000494165.1:p.Thr110Asn
ENST00000643342.1:c.148C>A
ENST00000643439.1:c.*798C>A ENSP00000495849.1:n.*798C>A
ENST00000643479.1:n.1244C>A
ENST00000643516.1:c.567C>A
ENST00000644218.1:c.887-258C>A ENSP00000493574.1:n.887-258C>A
ENST00000644683.1:c.*511C>A ENSP00000494085.1:n.*511C>A
ENST00000644810.1:c.779C>A ENSP00000495895.1:p.Thr260Asn
ENST00000644831.1:n.1234C>A
ENST00000644933.1:c.329C>A ENSP00000496133.1:p.Thr110Asn
ENST00000645285.1:c.158-258C>A ENSP00000495058.1:n.158-258C>A
ENST00000645331.1:n.1581C>A
ENST00000645620.1:c.329C>A ENSP00000493657.1:p.Thr110Asn
ENST00000646691.1:n.151C>A
ENST00000646777.1:n.1391C>A
ENST00000647016.1:n.1538C>A
ENST00000647152.1:c.329C>A ENSP00000495893.1:p.Thr110Asn
ENST00000647209.1:c.*927C>A ENSP00000495558.1:n.*927C>A
ENST00000647346.1:n.2078C>A
ENST00000299427.10:c.1058C>A ENSP00000299427.6:p.Thr353Asn
ENST00000533371.5:c.329C>A ENSP00000437066.1:p.Thr110Asn
ENST00000611494.4:c.1058C>A ENSP00000484546.1:p.Thr353Asn
NM_000391.3:c.1058C>A NP_000382.3:p.Thr353Asn
NM_000391.4:c.1058C>A MANE Select NP_000382.3:p.Thr353Asn