Canonical Allele Identifier: CA379476605
Community Standard Title: NM_000391.4(TPP1):c.237C>G (p.Tyr79Ter)
Gene: TPP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6617769G>C , CM000673.2:g.6617769G>C GRCh38
NC_000011.9:g.6639000G>C , CM000673.1:g.6639000G>C GRCh37
NC_000011.8:g.6595576G>C NCBI36
NG_008653.1:g.6693C>G

Transcript Alleles

HGVS Amino-acid Change
NM_000391.4:c.237C>G MANE Select NP_000382.3:p.Tyr79Ter
ENST00000299427.12:c.237C>G MANE Select ENSP00000299427.6:p.Tyr79Ter
NM_000391.3:c.237C>G NP_000382.3:p.Tyr79Ter
ENST00000299427.10:c.237C>G ENSP00000299427.6:p.Tyr79Ter
ENST00000428886.6:n.259C>G
ENST00000428886.7:n.325C>G
ENST00000436873.6:c.237C>G ENSP00000398136.2:p.Tyr79Ter
ENST00000436873.7:c.41C>G
ENST00000524788.2:n.1249C>G
ENST00000524903.2:n.1365C>G
ENST00000528571.5:c.97C>G ENSP00000434647.1:p.Pro33Ala
ENST00000528571.6:c.97C>G ENSP00000434647.1:p.Pro33Ala
ENST00000528917.1:n.538C>G
ENST00000530040.1:n.349C>G
ENST00000530040.2:n.266C>G
ENST00000533371.5:c.-493C>G ENSP00000437066.1:n.-493C>G
ENST00000533371.6:c.-493C>G ENSP00000437066.1:n.-493C>G
ENST00000534644.5:n.222C>G
ENST00000534644.6:n.238C>G
ENST00000611494.4:c.237C>G ENSP00000484546.1:p.Tyr79Ter
ENST00000642892.1:c.-440C>G ENSP00000494165.1:n.-440C>G
ENST00000643439.1:c.97C>G ENSP00000495849.1:p.Pro33Ala
ENST00000643479.1:n.266C>G
ENST00000643516.1:c.124C>G
ENST00000644151.1:n.1529C>G
ENST00000644218.1:c.237C>G ENSP00000493574.1:p.Tyr79Ter
ENST00000644683.1:c.237C>G ENSP00000494085.1:p.Tyr79Ter
ENST00000644810.1:c.230-616C>G ENSP00000495895.1:n.230-616C>G
ENST00000644831.1:n.266C>G
ENST00000644933.1:c.-493C>G ENSP00000496133.1:n.-493C>G
ENST00000645020.1:n.1265C>G
ENST00000645285.1:c.-493C>G ENSP00000495058.1:n.-493C>G
ENST00000645331.1:n.259C>G
ENST00000645620.1:c.-435C>G ENSP00000493657.1:n.-435C>G
ENST00000646777.1:n.266C>G
ENST00000647016.1:n.570C>G
ENST00000647152.1:c.-493C>G ENSP00000495893.1:n.-493C>G
ENST00000647209.1:c.*106C>G ENSP00000495558.1:n.*106C>G
ENST00000647346.1:n.1257C>G
ENST00000682424.1:c.123C>G ENSP00000507321.1:p.Tyr41Ter