Canonical Allele Identifier: CA379476368
Gene: TPP1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6617692G>T , CM000673.2:g.6617692G>T GRCh38
NC_000011.9:g.6638923G>T , CM000673.1:g.6638923G>T GRCh37
NC_000011.8:g.6595499G>T NCBI36
NG_008653.1:g.6770C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000682424.1:c.200C>A ENSP00000507321.1:p.Ala67Glu
ENST00000299427.12:c.314C>A MANE Select ENSP00000299427.6:p.Ala105Glu
ENST00000428886.7:n.402C>A
ENST00000436873.7:c.118C>A
ENST00000524788.2:n.1326C>A
ENST00000524903.2:n.1442C>A
ENST00000528571.6:c.*54C>A ENSP00000434647.1:n.*54C>A
ENST00000530040.2:n.343C>A
ENST00000533371.6:c.-416C>A ENSP00000437066.1:n.-416C>A
ENST00000534644.6:n.315C>A
ENST00000642892.1:c.-363C>A ENSP00000494165.1:n.-363C>A
ENST00000643439.1:c.*54C>A ENSP00000495849.1:n.*54C>A
ENST00000643479.1:n.343C>A
ENST00000643516.1:c.201C>A
ENST00000644151.1:n.1606C>A
ENST00000644218.1:c.314C>A ENSP00000493574.1:p.Ala105Glu
ENST00000644683.1:c.314C>A ENSP00000494085.1:p.Ala105Glu
ENST00000644810.1:c.230-539C>A ENSP00000495895.1:n.230-539C>A
ENST00000644831.1:n.343C>A
ENST00000644933.1:c.-416C>A ENSP00000496133.1:n.-416C>A
ENST00000645020.1:n.1342C>A
ENST00000645285.1:c.-416C>A ENSP00000495058.1:n.-416C>A
ENST00000645331.1:n.336C>A
ENST00000645620.1:c.-358C>A ENSP00000493657.1:n.-358C>A
ENST00000646777.1:n.343C>A
ENST00000647016.1:n.647C>A
ENST00000647152.1:c.-416C>A ENSP00000495893.1:n.-416C>A
ENST00000647209.1:c.*183C>A ENSP00000495558.1:n.*183C>A
ENST00000647346.1:n.1334C>A
ENST00000299427.10:c.314C>A ENSP00000299427.6:p.Ala105Glu
ENST00000428886.6:n.336C>A
ENST00000436873.6:c.314C>A ENSP00000398136.2:p.Ala105Glu
ENST00000528571.5:c.*54C>A ENSP00000434647.1:n.*54C>A
ENST00000530040.1:n.426C>A
ENST00000533371.5:c.-416C>A ENSP00000437066.1:n.-416C>A
ENST00000534644.5:n.299C>A
ENST00000611494.4:c.314C>A ENSP00000484546.1:p.Ala105Glu
NM_000391.3:c.314C>A NP_000382.3:p.Ala105Glu
NM_000391.4:c.314C>A MANE Select NP_000382.3:p.Ala105Glu