Canonical Allele Identifier: CA472923058
Gene: TPP1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.6638635C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6617404C>A , CM000673.2:g.6617404C>A GRCh38
NC_000011.9:g.6638635C>A , CM000673.1:g.6638635C>A GRCh37
NC_000011.8:g.6595211C>A NCBI36
NG_008653.1:g.7058G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000682424.1:c.291G>T ENSP00000507321.1:p.Gly97=
ENST00000299427.12:c.405G>T MANE Select ENSP00000299427.6:p.Gly135=
ENST00000428886.7:n.493G>T
ENST00000436873.7:c.209G>T
ENST00000524788.2:n.1417G>T
ENST00000524903.2:n.1533G>T
ENST00000528571.6:c.*145G>T ENSP00000434647.1:n.*145G>T
ENST00000528807.2:n.61G>T
ENST00000530040.2:n.434G>T
ENST00000533371.6:c.-325G>T ENSP00000437066.1:n.-325G>T
ENST00000534644.6:n.406G>T
ENST00000642892.1:c.-272G>T ENSP00000494165.1:n.-272G>T
ENST00000643439.1:c.*145G>T ENSP00000495849.1:n.*145G>T
ENST00000643479.1:n.434G>T
ENST00000643516.1:c.292G>T
ENST00000644151.1:n.1697G>T
ENST00000644218.1:c.405G>T ENSP00000493574.1:p.Gly135=
ENST00000644683.1:c.405G>T ENSP00000494085.1:p.Gly135=
ENST00000644810.1:c.230-251G>T ENSP00000495895.1:n.230-251G>T
ENST00000644831.1:n.434G>T
ENST00000644933.1:c.-325G>T ENSP00000496133.1:n.-325G>T
ENST00000645020.1:n.1433G>T
ENST00000645285.1:c.-325G>T ENSP00000495058.1:n.-325G>T
ENST00000645331.1:n.624G>T
ENST00000645620.1:c.-267G>T ENSP00000493657.1:n.-267G>T
ENST00000646777.1:n.434G>T
ENST00000647016.1:n.738G>T
ENST00000647152.1:c.-325G>T ENSP00000495893.1:n.-325G>T
ENST00000647209.1:c.*274G>T ENSP00000495558.1:n.*274G>T
ENST00000647346.1:n.1425G>T
ENST00000299427.10:c.405G>T ENSP00000299427.6:p.Gly135=
ENST00000428886.6:n.427G>T
ENST00000436873.6:c.405G>T ENSP00000398136.2:p.Gly135=
ENST00000528571.5:c.*145G>T ENSP00000434647.1:n.*145G>T
ENST00000530040.1:n.517G>T
ENST00000533371.5:c.-325G>T ENSP00000437066.1:n.-325G>T
ENST00000534644.5:n.390G>T
ENST00000611494.4:c.405G>T ENSP00000484546.1:p.Gly135=
NM_000391.3:c.405G>T NP_000382.3:p.Gly135=
NM_000391.4:c.405G>T MANE Select NP_000382.3:p.Gly135=