Canonical Allele Identifier: CA472922843
Gene: TPP1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.6638233G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6617002G>A , CM000673.2:g.6617002G>A GRCh38
NC_000011.9:g.6638233G>A , CM000673.1:g.6638233G>A GRCh37
NC_000011.8:g.6594809G>A NCBI36
NG_008653.1:g.7460C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000682424.1:c.546C>T ENSP00000507321.1:p.Thr182=
ENST00000299427.12:c.660C>T MANE Select ENSP00000299427.6:p.Thr220=
ENST00000436873.7:c.312+299C>T
ENST00000524788.2:n.1819C>T
ENST00000524903.2:n.1935C>T
ENST00000528807.2:n.316C>T
ENST00000530040.2:n.479+357C>T
ENST00000533371.6:c.-70C>T ENSP00000437066.1:n.-70C>T
ENST00000534644.6:n.608C>T
ENST00000642892.1:c.-70C>T ENSP00000494165.1:n.-70C>T
ENST00000643439.1:c.*400C>T ENSP00000495849.1:n.*400C>T
ENST00000643479.1:n.689C>T
ENST00000643516.1:c.395+299C>T
ENST00000644151.1:n.2099C>T
ENST00000644218.1:c.660C>T ENSP00000493574.1:p.Thr220=
ENST00000644683.1:c.*113C>T ENSP00000494085.1:n.*113C>T
ENST00000644810.1:c.381C>T ENSP00000495895.1:p.Thr127=
ENST00000644831.1:n.836C>T
ENST00000644933.1:c.-70C>T ENSP00000496133.1:n.-70C>T
ENST00000645020.1:n.1835C>T
ENST00000645285.1:c.-70C>T ENSP00000495058.1:n.-70C>T
ENST00000645331.1:n.1026C>T
ENST00000645620.1:c.-70C>T ENSP00000493657.1:n.-70C>T
ENST00000646777.1:n.836C>T
ENST00000647016.1:n.1140C>T
ENST00000647152.1:c.-70C>T ENSP00000495893.1:n.-70C>T
ENST00000647209.1:c.*529C>T ENSP00000495558.1:n.*529C>T
ENST00000647346.1:n.1680C>T
ENST00000299427.10:c.660C>T ENSP00000299427.6:p.Thr220=
ENST00000428886.6:n.829C>T
ENST00000436873.6:c.450+357C>T ENSP00000398136.2:n.450+357C>T
ENST00000524788.1:n.360C>T
ENST00000528571.5:c.*400C>T ENSP00000434647.1:n.*400C>T
ENST00000528807.1:n.210C>T
ENST00000533371.5:c.-70C>T ENSP00000437066.1:n.-70C>T
ENST00000611494.4:c.660C>T ENSP00000484546.1:p.Thr220=
NM_000391.3:c.660C>T NP_000382.3:p.Thr220=
NM_000391.4:c.660C>T MANE Select NP_000382.3:p.Thr220=