Canonical Allele Identifier: CA1950215247
Gene: TPP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6617666C= , CM000673.2:g.6617666C= GRCh38
NC_000011.9:g.6638897C= , CM000673.1:g.6638897C= GRCh37
NC_000011.8:g.6595473C= NCBI36
NG_008653.1:g.6796G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000682424.1:c.226G= ENSP00000507321.1:p.Val76=
ENST00000299427.12:c.340G= MANE Select ENSP00000299427.6:p.Val114=
ENST00000428886.7:n.428G=
ENST00000436873.7:c.144G=
ENST00000524788.2:n.1352G=
ENST00000524903.2:n.1468G=
ENST00000528571.6:c.*80G= ENSP00000434647.1:n.*80G=
ENST00000530040.2:n.369G=
ENST00000533371.6:c.-390G= ENSP00000437066.1:n.-390G=
ENST00000534644.6:n.341G=
ENST00000642892.1:c.-337G= ENSP00000494165.1:n.-337G=
ENST00000643439.1:c.*80G= ENSP00000495849.1:n.*80G=
ENST00000643479.1:n.369G=
ENST00000643516.1:c.227G=
ENST00000644151.1:n.1632G=
ENST00000644218.1:c.340G= ENSP00000493574.1:p.Val114=
ENST00000644683.1:c.340G= ENSP00000494085.1:p.Val114=
ENST00000644810.1:c.230-513G= ENSP00000495895.1:n.230-513G=
ENST00000644831.1:n.369G=
ENST00000644933.1:c.-390G= ENSP00000496133.1:n.-390G=
ENST00000645020.1:n.1368G=
ENST00000645285.1:c.-390G= ENSP00000495058.1:n.-390G=
ENST00000645331.1:n.362G=
ENST00000645620.1:c.-332G= ENSP00000493657.1:n.-332G=
ENST00000646777.1:n.369G=
ENST00000647016.1:n.673G=
ENST00000647152.1:c.-390G= ENSP00000495893.1:n.-390G=
ENST00000647209.1:c.*209G= ENSP00000495558.1:n.*209G=
ENST00000647346.1:n.1360G=
ENST00000299427.10:c.340G= ENSP00000299427.6:p.Val114=
ENST00000428886.6:n.362G=
ENST00000436873.6:c.340G= ENSP00000398136.2:p.Val114=
ENST00000528571.5:c.*80G= ENSP00000434647.1:n.*80G=
ENST00000530040.1:n.452G=
ENST00000533371.5:c.-390G= ENSP00000437066.1:n.-390G=
ENST00000534644.5:n.325G=
ENST00000611494.4:c.340G= ENSP00000484546.1:p.Val114=
NM_000391.3:c.340G= NP_000382.3:p.Val114=
NM_000391.4:c.340G= MANE Select NP_000382.3:p.Val114=