Canonical Allele Identifier: CA379476048
Gene: TPP1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6617415G>T , CM000673.2:g.6617415G>T GRCh38
NC_000011.9:g.6638646G>T , CM000673.1:g.6638646G>T GRCh37
NC_000011.8:g.6595222G>T NCBI36
NG_008653.1:g.7047C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000682424.1:c.280C>A ENSP00000507321.1:p.Leu94Met
ENST00000299427.12:c.394C>A MANE Select ENSP00000299427.6:p.Leu132Met
ENST00000428886.7:n.482C>A
ENST00000436873.7:c.198C>A
ENST00000524788.2:n.1406C>A
ENST00000524903.2:n.1522C>A
ENST00000528571.6:c.*134C>A ENSP00000434647.1:n.*134C>A
ENST00000528807.2:n.50C>A
ENST00000530040.2:n.423C>A
ENST00000533371.6:c.-336C>A ENSP00000437066.1:n.-336C>A
ENST00000534644.6:n.395C>A
ENST00000642892.1:c.-283C>A ENSP00000494165.1:n.-283C>A
ENST00000643439.1:c.*134C>A ENSP00000495849.1:n.*134C>A
ENST00000643479.1:n.423C>A
ENST00000643516.1:c.281C>A
ENST00000644151.1:n.1686C>A
ENST00000644218.1:c.394C>A ENSP00000493574.1:p.Leu132Met
ENST00000644683.1:c.394C>A ENSP00000494085.1:p.Leu132Met
ENST00000644810.1:c.230-262C>A ENSP00000495895.1:n.230-262C>A
ENST00000644831.1:n.423C>A
ENST00000644933.1:c.-336C>A ENSP00000496133.1:n.-336C>A
ENST00000645020.1:n.1422C>A
ENST00000645285.1:c.-336C>A ENSP00000495058.1:n.-336C>A
ENST00000645331.1:n.613C>A
ENST00000645620.1:c.-278C>A ENSP00000493657.1:n.-278C>A
ENST00000646777.1:n.423C>A
ENST00000647016.1:n.727C>A
ENST00000647152.1:c.-336C>A ENSP00000495893.1:n.-336C>A
ENST00000647209.1:c.*263C>A ENSP00000495558.1:n.*263C>A
ENST00000647346.1:n.1414C>A
ENST00000299427.10:c.394C>A ENSP00000299427.6:p.Leu132Met
ENST00000428886.6:n.416C>A
ENST00000436873.6:c.394C>A ENSP00000398136.2:p.Leu132Met
ENST00000528571.5:c.*134C>A ENSP00000434647.1:n.*134C>A
ENST00000530040.1:n.506C>A
ENST00000533371.5:c.-336C>A ENSP00000437066.1:n.-336C>A
ENST00000534644.5:n.379C>A
ENST00000611494.4:c.394C>A ENSP00000484546.1:p.Leu132Met
NM_000391.3:c.394C>A NP_000382.3:p.Leu132Met
NM_000391.4:c.394C>A MANE Select NP_000382.3:p.Leu132Met