Canonical Allele Identifier: CA379476068
Gene: TPP1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6617423G>C , CM000673.2:g.6617423G>C GRCh38
NC_000011.9:g.6638654G>C , CM000673.1:g.6638654G>C GRCh37
NC_000011.8:g.6595230G>C NCBI36
NG_008653.1:g.7039C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000682424.1:c.272C>G ENSP00000507321.1:p.Ala91Gly
ENST00000299427.12:c.386C>G MANE Select ENSP00000299427.6:p.Ala129Gly
ENST00000428886.7:n.474C>G
ENST00000436873.7:c.190C>G
ENST00000524788.2:n.1398C>G
ENST00000524903.2:n.1514C>G
ENST00000528571.6:c.*126C>G ENSP00000434647.1:n.*126C>G
ENST00000528807.2:n.42C>G
ENST00000530040.2:n.415C>G
ENST00000533371.6:c.-344C>G ENSP00000437066.1:n.-344C>G
ENST00000534644.6:n.387C>G
ENST00000642892.1:c.-291C>G ENSP00000494165.1:n.-291C>G
ENST00000643439.1:c.*126C>G ENSP00000495849.1:n.*126C>G
ENST00000643479.1:n.415C>G
ENST00000643516.1:c.273C>G
ENST00000644151.1:n.1678C>G
ENST00000644218.1:c.386C>G ENSP00000493574.1:p.Ala129Gly
ENST00000644683.1:c.386C>G ENSP00000494085.1:p.Ala129Gly
ENST00000644810.1:c.230-270C>G ENSP00000495895.1:n.230-270C>G
ENST00000644831.1:n.415C>G
ENST00000644933.1:c.-344C>G ENSP00000496133.1:n.-344C>G
ENST00000645020.1:n.1414C>G
ENST00000645285.1:c.-344C>G ENSP00000495058.1:n.-344C>G
ENST00000645331.1:n.605C>G
ENST00000645620.1:c.-286C>G ENSP00000493657.1:n.-286C>G
ENST00000646777.1:n.415C>G
ENST00000647016.1:n.719C>G
ENST00000647152.1:c.-344C>G ENSP00000495893.1:n.-344C>G
ENST00000647209.1:c.*255C>G ENSP00000495558.1:n.*255C>G
ENST00000647346.1:n.1406C>G
ENST00000299427.10:c.386C>G ENSP00000299427.6:p.Ala129Gly
ENST00000428886.6:n.408C>G
ENST00000436873.6:c.386C>G ENSP00000398136.2:p.Ala129Gly
ENST00000528571.5:c.*126C>G ENSP00000434647.1:n.*126C>G
ENST00000530040.1:n.498C>G
ENST00000533371.5:c.-344C>G ENSP00000437066.1:n.-344C>G
ENST00000534644.5:n.371C>G
ENST00000611494.4:c.386C>G ENSP00000484546.1:p.Ala129Gly
NM_000391.3:c.386C>G NP_000382.3:p.Ala129Gly
NM_000391.4:c.386C>G MANE Select NP_000382.3:p.Ala129Gly