Canonical Allele Identifier: CA472923000
Gene: TPP1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.6638602C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6617371C>G , CM000673.2:g.6617371C>G GRCh38
NC_000011.9:g.6638602C>G , CM000673.1:g.6638602C>G GRCh37
NC_000011.8:g.6595178C>G NCBI36
NG_008653.1:g.7091G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000682424.1:c.324G>C ENSP00000507321.1:p.Thr108=
ENST00000299427.12:c.438G>C MANE Select ENSP00000299427.6:p.Thr146=
ENST00000428886.7:n.526G>C
ENST00000436873.7:c.242G>C
ENST00000524788.2:n.1450G>C
ENST00000524903.2:n.1566G>C
ENST00000528571.6:c.*178G>C ENSP00000434647.1:n.*178G>C
ENST00000528807.2:n.94G>C
ENST00000530040.2:n.467G>C
ENST00000533371.6:c.-292G>C ENSP00000437066.1:n.-292G>C
ENST00000534644.6:n.439G>C
ENST00000642892.1:c.-239G>C ENSP00000494165.1:n.-239G>C
ENST00000643439.1:c.*178G>C ENSP00000495849.1:n.*178G>C
ENST00000643479.1:n.467G>C
ENST00000643516.1:c.325G>C
ENST00000644151.1:n.1730G>C
ENST00000644218.1:c.438G>C ENSP00000493574.1:p.Thr146=
ENST00000644683.1:c.438G>C ENSP00000494085.1:p.Thr146=
ENST00000644810.1:c.230-218G>C ENSP00000495895.1:n.230-218G>C
ENST00000644831.1:n.467G>C
ENST00000644933.1:c.-292G>C ENSP00000496133.1:n.-292G>C
ENST00000645020.1:n.1466G>C
ENST00000645285.1:c.-292G>C ENSP00000495058.1:n.-292G>C
ENST00000645331.1:n.657G>C
ENST00000645620.1:c.-234G>C ENSP00000493657.1:n.-234G>C
ENST00000646777.1:n.467G>C
ENST00000647016.1:n.771G>C
ENST00000647152.1:c.-292G>C ENSP00000495893.1:n.-292G>C
ENST00000647209.1:c.*307G>C ENSP00000495558.1:n.*307G>C
ENST00000647346.1:n.1458G>C
ENST00000299427.10:c.438G>C ENSP00000299427.6:p.Thr146=
ENST00000428886.6:n.460G>C
ENST00000436873.6:c.438G>C ENSP00000398136.2:p.Thr146=
ENST00000528571.5:c.*178G>C ENSP00000434647.1:n.*178G>C
ENST00000530040.1:n.550G>C
ENST00000533371.5:c.-292G>C ENSP00000437066.1:n.-292G>C
ENST00000534644.5:n.423G>C
ENST00000611494.4:c.438G>C ENSP00000484546.1:p.Thr146=
NM_000391.3:c.438G>C NP_000382.3:p.Thr146=
NM_000391.4:c.438G>C MANE Select NP_000382.3:p.Thr146=