Canonical Allele Identifier: CA1950235682
Gene: TPP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6616057A= , CM000673.2:g.6616057A= GRCh38
NC_000011.9:g.6637288A= , CM000673.1:g.6637288A= GRCh37
NC_000011.8:g.6593864A= NCBI36
NG_008653.1:g.8405T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000682424.1:c.979T= ENSP00000507321.1:p.Cys327=
ENST00000299427.12:c.1093T= MANE Select ENSP00000299427.6:p.Cys365=
ENST00000436873.7:c.330T=
ENST00000524924.2:n.213T=
ENST00000533371.6:c.364T= ENSP00000437066.1:p.Cys122=
ENST00000642892.1:c.364T= ENSP00000494165.1:p.Cys122=
ENST00000643342.1:c.183T=
ENST00000643439.1:c.*833T= ENSP00000495849.1:n.*833T=
ENST00000643479.1:n.1279T=
ENST00000643516.1:c.602T=
ENST00000644218.1:c.904T= ENSP00000493574.1:p.Cys302=
ENST00000644683.1:c.*546T= ENSP00000494085.1:n.*546T=
ENST00000644810.1:c.814T= ENSP00000495895.1:p.Cys272=
ENST00000644831.1:n.1269T=
ENST00000644933.1:c.364T= ENSP00000496133.1:p.Cys122=
ENST00000645285.1:c.175T= ENSP00000495058.1:p.Cys59=
ENST00000645331.1:n.1856T=
ENST00000645620.1:c.364T= ENSP00000493657.1:p.Cys122=
ENST00000646691.1:n.426T=
ENST00000646777.1:n.1426T=
ENST00000647016.1:n.1573T=
ENST00000647152.1:c.364T= ENSP00000495893.1:p.Cys122=
ENST00000647209.1:c.*962T= ENSP00000495558.1:n.*962T=
ENST00000647346.1:n.2113T=
ENST00000299427.10:c.1093T= ENSP00000299427.6:p.Cys365=
ENST00000524924.1:n.48T=
ENST00000533371.5:c.364T= ENSP00000437066.1:p.Cys122=
ENST00000611494.4:c.1093T= ENSP00000484546.1:p.Cys365=
NM_000391.3:c.1093T= NP_000382.3:p.Cys365=
NM_000391.4:c.1093T= MANE Select NP_000382.3:p.Cys365=