Canonical Allele Identifier: CA472922922
Gene: TPP1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.6638566C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6617335C>T , CM000673.2:g.6617335C>T GRCh38
NC_000011.9:g.6638566C>T , CM000673.1:g.6638566C>T GRCh37
NC_000011.8:g.6595142C>T NCBI36
NG_008653.1:g.7127G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000682424.1:c.360G>A ENSP00000507321.1:p.Gln120=
ENST00000299427.12:c.474G>A MANE Select ENSP00000299427.6:p.Gln158=
ENST00000428886.7:n.562G>A
ENST00000436873.7:c.278G>A
ENST00000524788.2:n.1486G>A
ENST00000524903.2:n.1602G>A
ENST00000528571.6:c.*214G>A ENSP00000434647.1:n.*214G>A
ENST00000528807.2:n.130G>A
ENST00000530040.2:n.479+24G>A
ENST00000533371.6:c.-256G>A ENSP00000437066.1:n.-256G>A
ENST00000534644.6:n.456+19G>A
ENST00000642892.1:c.-222+19G>A ENSP00000494165.1:n.-222+19G>A
ENST00000643439.1:c.*214G>A ENSP00000495849.1:n.*214G>A
ENST00000643479.1:n.503G>A
ENST00000643516.1:c.361G>A
ENST00000644151.1:n.1766G>A
ENST00000644218.1:c.474G>A ENSP00000493574.1:p.Gln158=
ENST00000644683.1:c.450+24G>A ENSP00000494085.1:n.450+24G>A
ENST00000644810.1:c.230-182G>A ENSP00000495895.1:n.230-182G>A
ENST00000644831.1:n.503G>A
ENST00000644933.1:c.-256G>A ENSP00000496133.1:n.-256G>A
ENST00000645020.1:n.1502G>A
ENST00000645285.1:c.-256G>A ENSP00000495058.1:n.-256G>A
ENST00000645331.1:n.693G>A
ENST00000645620.1:c.-222+24G>A ENSP00000493657.1:n.-222+24G>A
ENST00000646777.1:n.503G>A
ENST00000647016.1:n.807G>A
ENST00000647152.1:c.-256G>A ENSP00000495893.1:n.-256G>A
ENST00000647209.1:c.*343G>A ENSP00000495558.1:n.*343G>A
ENST00000647346.1:n.1494G>A
ENST00000299427.10:c.474G>A ENSP00000299427.6:p.Gln158=
ENST00000428886.6:n.496G>A
ENST00000436873.6:c.450+24G>A ENSP00000398136.2:n.450+24G>A
ENST00000524788.1:n.27G>A
ENST00000528571.5:c.*214G>A ENSP00000434647.1:n.*214G>A
ENST00000533371.5:c.-256G>A ENSP00000437066.1:n.-256G>A
ENST00000534644.5:n.459G>A
ENST00000611494.4:c.474G>A ENSP00000484546.1:p.Gln158=
NM_000391.3:c.474G>A NP_000382.3:p.Gln158=
NM_000391.4:c.474G>A MANE Select NP_000382.3:p.Gln158=