Canonical Allele Identifier: CA379476611
Gene: TPP1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6617771A>C , CM000673.2:g.6617771A>C GRCh38
NC_000011.9:g.6639002A>C , CM000673.1:g.6639002A>C GRCh37
NC_000011.8:g.6595578A>C NCBI36
NG_008653.1:g.6691T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000682424.1:c.121T>G ENSP00000507321.1:p.Tyr41Asp
ENST00000299427.12:c.235T>G MANE Select ENSP00000299427.6:p.Tyr79Asp
ENST00000428886.7:n.323T>G
ENST00000436873.7:c.39T>G
ENST00000524788.2:n.1247T>G
ENST00000524903.2:n.1363T>G
ENST00000528571.6:c.95T>G ENSP00000434647.1:p.Ile32Arg
ENST00000530040.2:n.264T>G
ENST00000533371.6:c.-495T>G ENSP00000437066.1:n.-495T>G
ENST00000534644.6:n.236T>G
ENST00000642892.1:c.-442T>G ENSP00000494165.1:n.-442T>G
ENST00000643439.1:c.95T>G ENSP00000495849.1:p.Ile32Arg
ENST00000643479.1:n.264T>G
ENST00000643516.1:c.122T>G
ENST00000644151.1:n.1527T>G
ENST00000644218.1:c.235T>G ENSP00000493574.1:p.Tyr79Asp
ENST00000644683.1:c.235T>G ENSP00000494085.1:p.Tyr79Asp
ENST00000644810.1:c.230-618T>G ENSP00000495895.1:n.230-618T>G
ENST00000644831.1:n.264T>G
ENST00000644933.1:c.-495T>G ENSP00000496133.1:n.-495T>G
ENST00000645020.1:n.1263T>G
ENST00000645285.1:c.-495T>G ENSP00000495058.1:n.-495T>G
ENST00000645331.1:n.257T>G
ENST00000645620.1:c.-437T>G ENSP00000493657.1:n.-437T>G
ENST00000646777.1:n.264T>G
ENST00000647016.1:n.568T>G
ENST00000647152.1:c.-495T>G ENSP00000495893.1:n.-495T>G
ENST00000647209.1:c.*104T>G ENSP00000495558.1:n.*104T>G
ENST00000647346.1:n.1255T>G
ENST00000299427.10:c.235T>G ENSP00000299427.6:p.Tyr79Asp
ENST00000428886.6:n.257T>G
ENST00000436873.6:c.235T>G ENSP00000398136.2:p.Tyr79Asp
ENST00000528571.5:c.95T>G ENSP00000434647.1:p.Ile32Arg
ENST00000528917.1:n.536T>G
ENST00000530040.1:n.347T>G
ENST00000533371.5:c.-495T>G ENSP00000437066.1:n.-495T>G
ENST00000534644.5:n.220T>G
ENST00000611494.4:c.235T>G ENSP00000484546.1:p.Tyr79Asp
NM_000391.3:c.235T>G NP_000382.3:p.Tyr79Asp
NM_000391.4:c.235T>G MANE Select NP_000382.3:p.Tyr79Asp