Canonical Allele Identifier: CA379475599
Gene: TPP1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6617121A>C , CM000673.2:g.6617121A>C GRCh38
NC_000011.9:g.6638352A>C , CM000673.1:g.6638352A>C GRCh37
NC_000011.8:g.6594928A>C NCBI36
NG_008653.1:g.7341T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000682424.1:c.427T>G ENSP00000507321.1:p.Ser143Ala
ENST00000299427.12:c.541T>G MANE Select ENSP00000299427.6:p.Ser181Ala
ENST00000428886.7:n.776T>G
ENST00000436873.7:c.312+180T>G
ENST00000524788.2:n.1700T>G
ENST00000524903.2:n.1816T>G
ENST00000528807.2:n.197T>G
ENST00000530040.2:n.479+238T>G
ENST00000533371.6:c.-189T>G ENSP00000437066.1:n.-189T>G
ENST00000534644.6:n.489T>G
ENST00000642892.1:c.-189T>G ENSP00000494165.1:n.-189T>G
ENST00000643439.1:c.*281T>G ENSP00000495849.1:n.*281T>G
ENST00000643479.1:n.570T>G
ENST00000643516.1:c.395+180T>G
ENST00000644151.1:n.1980T>G
ENST00000644218.1:c.541T>G ENSP00000493574.1:p.Ser181Ala
ENST00000644683.1:c.483T>G ENSP00000494085.1:p.His161Gln
ENST00000644810.1:c.262T>G ENSP00000495895.1:p.Ser88Ala
ENST00000644831.1:n.717T>G
ENST00000644933.1:c.-189T>G ENSP00000496133.1:n.-189T>G
ENST00000645020.1:n.1716T>G
ENST00000645285.1:c.-189T>G ENSP00000495058.1:n.-189T>G
ENST00000645331.1:n.907T>G
ENST00000645620.1:c.-189T>G ENSP00000493657.1:n.-189T>G
ENST00000646777.1:n.717T>G
ENST00000647016.1:n.1021T>G
ENST00000647152.1:c.-189T>G ENSP00000495893.1:n.-189T>G
ENST00000647209.1:c.*410T>G ENSP00000495558.1:n.*410T>G
ENST00000647346.1:n.1561T>G
ENST00000299427.10:c.541T>G ENSP00000299427.6:p.Ser181Ala
ENST00000428886.6:n.710T>G
ENST00000436873.6:c.450+238T>G ENSP00000398136.2:n.450+238T>G
ENST00000524788.1:n.241T>G
ENST00000528571.5:c.*281T>G ENSP00000434647.1:n.*281T>G
ENST00000528807.1:n.91T>G
ENST00000533371.5:c.-189T>G ENSP00000437066.1:n.-189T>G
ENST00000534644.5:n.526T>G
ENST00000611494.4:c.541T>G ENSP00000484546.1:p.Ser181Ala
NM_000391.3:c.541T>G NP_000382.3:p.Ser181Ala
NM_000391.4:c.541T>G MANE Select NP_000382.3:p.Ser181Ala