Canonical Allele Identifier: CA1950234047
Gene: TPP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6615235G= , CM000673.2:g.6615235G= GRCh38
NC_000011.9:g.6636466G= , CM000673.1:g.6636466G= GRCh37
NC_000011.8:g.6593042G= NCBI36
NG_008653.1:g.9227C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000682424.1:c.1247C= ENSP00000507321.1:p.Ala416=
ENST00000299427.12:c.1361C= MANE Select ENSP00000299427.6:p.Ala454=
ENST00000524611.2:n.221C=
ENST00000524924.2:n.481C=
ENST00000533371.6:c.632C= ENSP00000437066.1:p.Ala211=
ENST00000642892.1:c.632C= ENSP00000494165.1:p.Ala211=
ENST00000643342.1:c.434C=
ENST00000643439.1:c.*1101C= ENSP00000495849.1:n.*1101C=
ENST00000643479.1:n.1547C=
ENST00000643516.1:c.870C=
ENST00000644218.1:c.1172C= ENSP00000493574.1:p.Ala391=
ENST00000644683.1:c.*814C= ENSP00000494085.1:n.*814C=
ENST00000644810.1:c.1082C= ENSP00000495895.1:p.Ala361=
ENST00000644831.1:n.1537C=
ENST00000644933.1:c.*227C= ENSP00000496133.1:n.*227C=
ENST00000645285.1:c.*227C= ENSP00000495058.1:n.*227C=
ENST00000645331.1:n.2566C=
ENST00000645620.1:c.632C= ENSP00000493657.1:p.Ala211=
ENST00000646691.1:n.1248C=
ENST00000646777.1:n.1694C=
ENST00000647016.1:n.1841C=
ENST00000647152.1:c.632C= ENSP00000495893.1:p.Ala211=
ENST00000647209.1:c.*1230C= ENSP00000495558.1:n.*1230C=
ENST00000647346.1:n.2381C=
ENST00000299427.10:c.1361C= ENSP00000299427.6:p.Ala454=
ENST00000524611.1:n.239C=
ENST00000532191.1:n.414C=
ENST00000533371.5:c.632C= ENSP00000437066.1:p.Ala211=
ENST00000611494.4:c.1361C= ENSP00000484546.1:p.Ala454=
NM_000391.3:c.1361C= NP_000382.3:p.Ala454=
NM_000391.4:c.1361C= MANE Select NP_000382.3:p.Ala454=