Canonical Allele Identifier: CA379475584
Gene: TPP1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6617112G>T , CM000673.2:g.6617112G>T GRCh38
NC_000011.9:g.6638343G>T , CM000673.1:g.6638343G>T GRCh37
NC_000011.8:g.6594919G>T NCBI36
NG_008653.1:g.7350C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000682424.1:c.436C>A ENSP00000507321.1:p.Gln146Lys
ENST00000299427.12:c.550C>A MANE Select ENSP00000299427.6:p.Gln184Lys
ENST00000428886.7:n.785C>A
ENST00000436873.7:c.312+189C>A
ENST00000524788.2:n.1709C>A
ENST00000524903.2:n.1825C>A
ENST00000528807.2:n.206C>A
ENST00000530040.2:n.479+247C>A
ENST00000533371.6:c.-180C>A ENSP00000437066.1:n.-180C>A
ENST00000534644.6:n.498C>A
ENST00000642892.1:c.-180C>A ENSP00000494165.1:n.-180C>A
ENST00000643439.1:c.*290C>A ENSP00000495849.1:n.*290C>A
ENST00000643479.1:n.579C>A
ENST00000643516.1:c.395+189C>A
ENST00000644151.1:n.1989C>A
ENST00000644218.1:c.550C>A ENSP00000493574.1:p.Gln184Lys
ENST00000644683.1:c.*3C>A ENSP00000494085.1:n.*3C>A
ENST00000644810.1:c.271C>A ENSP00000495895.1:p.Gln91Lys
ENST00000644831.1:n.726C>A
ENST00000644933.1:c.-180C>A ENSP00000496133.1:n.-180C>A
ENST00000645020.1:n.1725C>A
ENST00000645285.1:c.-180C>A ENSP00000495058.1:n.-180C>A
ENST00000645331.1:n.916C>A
ENST00000645620.1:c.-180C>A ENSP00000493657.1:n.-180C>A
ENST00000646777.1:n.726C>A
ENST00000647016.1:n.1030C>A
ENST00000647152.1:c.-180C>A ENSP00000495893.1:n.-180C>A
ENST00000647209.1:c.*419C>A ENSP00000495558.1:n.*419C>A
ENST00000647346.1:n.1570C>A
ENST00000299427.10:c.550C>A ENSP00000299427.6:p.Gln184Lys
ENST00000428886.6:n.719C>A
ENST00000436873.6:c.450+247C>A ENSP00000398136.2:n.450+247C>A
ENST00000524788.1:n.250C>A
ENST00000528571.5:c.*290C>A ENSP00000434647.1:n.*290C>A
ENST00000528807.1:n.100C>A
ENST00000533371.5:c.-180C>A ENSP00000437066.1:n.-180C>A
ENST00000534644.5:n.535C>A
ENST00000611494.4:c.550C>A ENSP00000484546.1:p.Gln184Lys
NM_000391.3:c.550C>A NP_000382.3:p.Gln184Lys
NM_000391.4:c.550C>A MANE Select NP_000382.3:p.Gln184Lys