Canonical Allele Identifier: CA379476309
Gene: TPP1 HGNC NCBI

Linked Data

dbSNP Id: rs1855607081
gnomAD v4: 11-6617677-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6617677T>C , CM000673.2:g.6617677T>C GRCh38
NC_000011.9:g.6638908T>C , CM000673.1:g.6638908T>C GRCh37
NC_000011.8:g.6595484T>C NCBI36
NG_008653.1:g.6785A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000682424.1:c.215A>G ENSP00000507321.1:p.Lys72Arg
ENST00000299427.12:c.329A>G MANE Select ENSP00000299427.6:p.Lys110Arg
ENST00000428886.7:n.417A>G
ENST00000436873.7:c.133A>G
ENST00000524788.2:n.1341A>G
ENST00000524903.2:n.1457A>G
ENST00000528571.6:c.*69A>G ENSP00000434647.1:n.*69A>G
ENST00000530040.2:n.358A>G
ENST00000533371.6:c.-401A>G ENSP00000437066.1:n.-401A>G
ENST00000534644.6:n.330A>G
ENST00000642892.1:c.-348A>G ENSP00000494165.1:n.-348A>G
ENST00000643439.1:c.*69A>G ENSP00000495849.1:n.*69A>G
ENST00000643479.1:n.358A>G
ENST00000643516.1:c.216A>G
ENST00000644151.1:n.1621A>G
ENST00000644218.1:c.329A>G ENSP00000493574.1:p.Lys110Arg
ENST00000644683.1:c.329A>G ENSP00000494085.1:p.Lys110Arg
ENST00000644810.1:c.230-524A>G ENSP00000495895.1:n.230-524A>G
ENST00000644831.1:n.358A>G
ENST00000644933.1:c.-401A>G ENSP00000496133.1:n.-401A>G
ENST00000645020.1:n.1357A>G
ENST00000645285.1:c.-401A>G ENSP00000495058.1:n.-401A>G
ENST00000645331.1:n.351A>G
ENST00000645620.1:c.-343A>G ENSP00000493657.1:n.-343A>G
ENST00000646777.1:n.358A>G
ENST00000647016.1:n.662A>G
ENST00000647152.1:c.-401A>G ENSP00000495893.1:n.-401A>G
ENST00000647209.1:c.*198A>G ENSP00000495558.1:n.*198A>G
ENST00000647346.1:n.1349A>G
ENST00000299427.10:c.329A>G ENSP00000299427.6:p.Lys110Arg
ENST00000428886.6:n.351A>G
ENST00000436873.6:c.329A>G ENSP00000398136.2:p.Lys110Arg
ENST00000528571.5:c.*69A>G ENSP00000434647.1:n.*69A>G
ENST00000530040.1:n.441A>G
ENST00000533371.5:c.-401A>G ENSP00000437066.1:n.-401A>G
ENST00000534644.5:n.314A>G
ENST00000611494.4:c.329A>G ENSP00000484546.1:p.Lys110Arg
NM_000391.3:c.329A>G NP_000382.3:p.Lys110Arg
NM_000391.4:c.329A>G MANE Select NP_000382.3:p.Lys110Arg