Canonical Allele Identifier: CA2612256525
Gene: TPP1 HGNC NCBI

Linked Data

gnomAD v4: 11-6617959-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6617959G>T , CM000673.2:g.6617959G>T GRCh38
NC_000011.9:g.6639190G>T , CM000673.1:g.6639190G>T GRCh37
NC_000011.8:g.6595766G>T NCBI36
NG_008653.1:g.6503C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000682424.1:c.116-183C>A ENSP00000507321.1:n.116-183C>A
ENST00000299427.12:c.230-183C>A MANE Select ENSP00000299427.6:n.230-183C>A
ENST00000428886.7:n.318-183C>A
ENST00000436873.7:c.34-183C>A
ENST00000524788.2:n.1059C>A
ENST00000524903.2:n.1175C>A
ENST00000528571.6:c.90-183C>A ENSP00000434647.1:n.90-183C>A
ENST00000530040.2:n.259-183C>A
ENST00000533371.6:c.-500-183C>A ENSP00000437066.1:n.-500-183C>A
ENST00000534644.6:n.231-183C>A
ENST00000642892.1:c.-447-183C>A ENSP00000494165.1:n.-447-183C>A
ENST00000643439.1:c.90-183C>A ENSP00000495849.1:n.90-183C>A
ENST00000643479.1:n.259-183C>A
ENST00000643516.1:c.117-183C>A
ENST00000644151.1:n.1339C>A
ENST00000644218.1:c.230-183C>A ENSP00000493574.1:n.230-183C>A
ENST00000644683.1:c.230-183C>A ENSP00000494085.1:n.230-183C>A
ENST00000644810.1:c.230-806C>A ENSP00000495895.1:n.230-806C>A
ENST00000644831.1:n.259-183C>A
ENST00000644933.1:c.-500-183C>A ENSP00000496133.1:n.-500-183C>A
ENST00000645020.1:n.1075C>A
ENST00000645285.1:c.-500-183C>A ENSP00000495058.1:n.-500-183C>A
ENST00000645331.1:n.252-183C>A
ENST00000645620.1:c.-442-183C>A ENSP00000493657.1:n.-442-183C>A
ENST00000646777.1:n.259-183C>A
ENST00000647016.1:n.380C>A
ENST00000647152.1:c.-500-183C>A ENSP00000495893.1:n.-500-183C>A
ENST00000647209.1:c.*99-183C>A ENSP00000495558.1:n.*99-183C>A
ENST00000647346.1:n.1067C>A
ENST00000299427.10:c.230-183C>A ENSP00000299427.6:n.230-183C>A
ENST00000428886.6:n.252-183C>A
ENST00000436873.6:c.230-183C>A ENSP00000398136.2:n.230-183C>A
ENST00000528571.5:c.90-183C>A ENSP00000434647.1:n.90-183C>A
ENST00000528917.1:n.531-183C>A
ENST00000530040.1:n.342-183C>A
ENST00000533371.5:c.-500-183C>A ENSP00000437066.1:n.-500-183C>A
ENST00000534644.5:n.215-183C>A
ENST00000611494.4:c.230-183C>A ENSP00000484546.1:n.230-183C>A
NM_000391.3:c.230-183C>A NP_000382.3:n.230-183C>A
NM_000391.4:c.230-183C>A MANE Select NP_000382.3:n.230-183C>A