Canonical Allele Identifier: CA5858956
Gene: TPP1 HGNC NCBI

Linked Data

dbSNP Id: rs771835626
gnomAD v2: 11-6638612-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6617381C>T , CM000673.2:g.6617381C>T GRCh38
NC_000011.9:g.6638612C>T , CM000673.1:g.6638612C>T GRCh37
NC_000011.8:g.6595188C>T NCBI36
NG_008653.1:g.7081G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000682424.1:c.314G>A ENSP00000507321.1:p.Gly105Glu
ENST00000299427.12:c.428G>A MANE Select ENSP00000299427.6:p.Gly143Glu
ENST00000428886.7:n.516G>A
ENST00000436873.7:c.232G>A
ENST00000524788.2:n.1440G>A
ENST00000524903.2:n.1556G>A
ENST00000528571.6:c.*168G>A ENSP00000434647.1:n.*168G>A
ENST00000528807.2:n.84G>A
ENST00000530040.2:n.457G>A
ENST00000533371.6:c.-302G>A ENSP00000437066.1:n.-302G>A
ENST00000534644.6:n.429G>A
ENST00000642892.1:c.-249G>A ENSP00000494165.1:n.-249G>A
ENST00000643439.1:c.*168G>A ENSP00000495849.1:n.*168G>A
ENST00000643479.1:n.457G>A
ENST00000643516.1:c.315G>A
ENST00000644151.1:n.1720G>A
ENST00000644218.1:c.428G>A ENSP00000493574.1:p.Gly143Glu
ENST00000644683.1:c.428G>A ENSP00000494085.1:p.Gly143Glu
ENST00000644810.1:c.230-228G>A ENSP00000495895.1:n.230-228G>A
ENST00000644831.1:n.457G>A
ENST00000644933.1:c.-302G>A ENSP00000496133.1:n.-302G>A
ENST00000645020.1:n.1456G>A
ENST00000645285.1:c.-302G>A ENSP00000495058.1:n.-302G>A
ENST00000645331.1:n.647G>A
ENST00000645620.1:c.-244G>A ENSP00000493657.1:n.-244G>A
ENST00000646777.1:n.457G>A
ENST00000647016.1:n.761G>A
ENST00000647152.1:c.-302G>A ENSP00000495893.1:n.-302G>A
ENST00000647209.1:c.*297G>A ENSP00000495558.1:n.*297G>A
ENST00000647346.1:n.1448G>A
ENST00000299427.10:c.428G>A ENSP00000299427.6:p.Gly143Glu
ENST00000428886.6:n.450G>A
ENST00000436873.6:c.428G>A ENSP00000398136.2:p.Gly143Glu
ENST00000528571.5:c.*168G>A ENSP00000434647.1:n.*168G>A
ENST00000530040.1:n.540G>A
ENST00000533371.5:c.-302G>A ENSP00000437066.1:n.-302G>A
ENST00000534644.5:n.413G>A
ENST00000611494.4:c.428G>A ENSP00000484546.1:p.Gly143Glu
NM_000391.3:c.428G>A NP_000382.3:p.Gly143Glu
NM_000391.4:c.428G>A MANE Select NP_000382.3:p.Gly143Glu