Canonical Allele Identifier: CA472922864
Gene: TPP1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.6638377T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6617146T>A , CM000673.2:g.6617146T>A GRCh38
NC_000011.9:g.6638377T>A , CM000673.1:g.6638377T>A GRCh37
NC_000011.8:g.6594953T>A NCBI36
NG_008653.1:g.7316A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000682424.1:c.402A>T ENSP00000507321.1:p.Gly134=
ENST00000299427.12:c.516A>T MANE Select ENSP00000299427.6:p.Gly172=
ENST00000428886.7:n.751A>T
ENST00000436873.7:c.312+155A>T
ENST00000524788.2:n.1675A>T
ENST00000524903.2:n.1791A>T
ENST00000528807.2:n.172A>T
ENST00000530040.2:n.479+213A>T
ENST00000533371.6:c.-214A>T ENSP00000437066.1:n.-214A>T
ENST00000534644.6:n.464A>T
ENST00000642892.1:c.-214A>T ENSP00000494165.1:n.-214A>T
ENST00000643439.1:c.*256A>T ENSP00000495849.1:n.*256A>T
ENST00000643479.1:n.545A>T
ENST00000643516.1:c.395+155A>T
ENST00000644151.1:n.1955A>T
ENST00000644218.1:c.516A>T ENSP00000493574.1:p.Gly172=
ENST00000644683.1:c.458A>T ENSP00000494085.1:p.Asp153Val
ENST00000644810.1:c.237A>T ENSP00000495895.1:p.Gly79=
ENST00000644831.1:n.692A>T
ENST00000644933.1:c.-214A>T ENSP00000496133.1:n.-214A>T
ENST00000645020.1:n.1691A>T
ENST00000645285.1:c.-214A>T ENSP00000495058.1:n.-214A>T
ENST00000645331.1:n.882A>T
ENST00000645620.1:c.-214A>T ENSP00000493657.1:n.-214A>T
ENST00000646777.1:n.692A>T
ENST00000647016.1:n.996A>T
ENST00000647152.1:c.-214A>T ENSP00000495893.1:n.-214A>T
ENST00000647209.1:c.*385A>T ENSP00000495558.1:n.*385A>T
ENST00000647346.1:n.1536A>T
ENST00000299427.10:c.516A>T ENSP00000299427.6:p.Gly172=
ENST00000428886.6:n.685A>T
ENST00000436873.6:c.450+213A>T ENSP00000398136.2:n.450+213A>T
ENST00000524788.1:n.216A>T
ENST00000528571.5:c.*256A>T ENSP00000434647.1:n.*256A>T
ENST00000528807.1:n.66A>T
ENST00000533371.5:c.-214A>T ENSP00000437066.1:n.-214A>T
ENST00000534644.5:n.501A>T
ENST00000611494.4:c.516A>T ENSP00000484546.1:p.Gly172=
NM_000391.3:c.516A>T NP_000382.3:p.Gly172=
NM_000391.4:c.516A>T MANE Select NP_000382.3:p.Gly172=