Canonical Allele Identifier: CA472922887
Gene: TPP1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.6638554G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6617323G>T , CM000673.2:g.6617323G>T GRCh38
NC_000011.9:g.6638554G>T , CM000673.1:g.6638554G>T GRCh37
NC_000011.8:g.6595130G>T NCBI36
NG_008653.1:g.7139C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000682424.1:c.372C>A ENSP00000507321.1:p.Ala124=
ENST00000299427.12:c.486C>A MANE Select ENSP00000299427.6:p.Ala162=
ENST00000428886.7:n.574C>A
ENST00000436873.7:c.290C>A
ENST00000524788.2:n.1498C>A
ENST00000524903.2:n.1614C>A
ENST00000528571.6:c.*226C>A ENSP00000434647.1:n.*226C>A
ENST00000528807.2:n.142C>A
ENST00000530040.2:n.479+36C>A
ENST00000533371.6:c.-244C>A ENSP00000437066.1:n.-244C>A
ENST00000534644.6:n.456+31C>A
ENST00000642892.1:c.-222+31C>A ENSP00000494165.1:n.-222+31C>A
ENST00000643439.1:c.*226C>A ENSP00000495849.1:n.*226C>A
ENST00000643479.1:n.515C>A
ENST00000643516.1:c.373C>A
ENST00000644151.1:n.1778C>A
ENST00000644218.1:c.486C>A ENSP00000493574.1:p.Ala162=
ENST00000644683.1:c.450+36C>A ENSP00000494085.1:n.450+36C>A
ENST00000644810.1:c.230-170C>A ENSP00000495895.1:n.230-170C>A
ENST00000644831.1:n.515C>A
ENST00000644933.1:c.-244C>A ENSP00000496133.1:n.-244C>A
ENST00000645020.1:n.1514C>A
ENST00000645285.1:c.-244C>A ENSP00000495058.1:n.-244C>A
ENST00000645331.1:n.705C>A
ENST00000645620.1:c.-222+36C>A ENSP00000493657.1:n.-222+36C>A
ENST00000646777.1:n.515C>A
ENST00000647016.1:n.819C>A
ENST00000647152.1:c.-244C>A ENSP00000495893.1:n.-244C>A
ENST00000647209.1:c.*355C>A ENSP00000495558.1:n.*355C>A
ENST00000647346.1:n.1506C>A
ENST00000299427.10:c.486C>A ENSP00000299427.6:p.Ala162=
ENST00000428886.6:n.508C>A
ENST00000436873.6:c.450+36C>A ENSP00000398136.2:n.450+36C>A
ENST00000524788.1:n.39C>A
ENST00000528571.5:c.*226C>A ENSP00000434647.1:n.*226C>A
ENST00000533371.5:c.-244C>A ENSP00000437066.1:n.-244C>A
ENST00000534644.5:n.471C>A
ENST00000611494.4:c.486C>A ENSP00000484546.1:p.Ala162=
NM_000391.3:c.486C>A NP_000382.3:p.Ala162=
NM_000391.4:c.486C>A MANE Select NP_000382.3:p.Ala162=