Canonical Allele Identifier: CA472922841
Gene: TPP1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.6638359T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6617128T>A , CM000673.2:g.6617128T>A GRCh38
NC_000011.9:g.6638359T>A , CM000673.1:g.6638359T>A GRCh37
NC_000011.8:g.6594935T>A NCBI36
NG_008653.1:g.7334A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000682424.1:c.420A>T ENSP00000507321.1:p.Pro140=
ENST00000299427.12:c.534A>T MANE Select ENSP00000299427.6:p.Pro178=
ENST00000428886.7:n.769A>T
ENST00000436873.7:c.312+173A>T
ENST00000524788.2:n.1693A>T
ENST00000524903.2:n.1809A>T
ENST00000528807.2:n.190A>T
ENST00000530040.2:n.479+231A>T
ENST00000533371.6:c.-196A>T ENSP00000437066.1:n.-196A>T
ENST00000534644.6:n.482A>T
ENST00000642892.1:c.-196A>T ENSP00000494165.1:n.-196A>T
ENST00000643439.1:c.*274A>T ENSP00000495849.1:n.*274A>T
ENST00000643479.1:n.563A>T
ENST00000643516.1:c.395+173A>T
ENST00000644151.1:n.1973A>T
ENST00000644218.1:c.534A>T ENSP00000493574.1:p.Pro178=
ENST00000644683.1:c.476A>T ENSP00000494085.1:p.Gln159Leu
ENST00000644810.1:c.255A>T ENSP00000495895.1:p.Pro85=
ENST00000644831.1:n.710A>T
ENST00000644933.1:c.-196A>T ENSP00000496133.1:n.-196A>T
ENST00000645020.1:n.1709A>T
ENST00000645285.1:c.-196A>T ENSP00000495058.1:n.-196A>T
ENST00000645331.1:n.900A>T
ENST00000645620.1:c.-196A>T ENSP00000493657.1:n.-196A>T
ENST00000646777.1:n.710A>T
ENST00000647016.1:n.1014A>T
ENST00000647152.1:c.-196A>T ENSP00000495893.1:n.-196A>T
ENST00000647209.1:c.*403A>T ENSP00000495558.1:n.*403A>T
ENST00000647346.1:n.1554A>T
ENST00000299427.10:c.534A>T ENSP00000299427.6:p.Pro178=
ENST00000428886.6:n.703A>T
ENST00000436873.6:c.450+231A>T ENSP00000398136.2:n.450+231A>T
ENST00000524788.1:n.234A>T
ENST00000528571.5:c.*274A>T ENSP00000434647.1:n.*274A>T
ENST00000528807.1:n.84A>T
ENST00000533371.5:c.-196A>T ENSP00000437066.1:n.-196A>T
ENST00000534644.5:n.519A>T
ENST00000611494.4:c.534A>T ENSP00000484546.1:p.Pro178=
NM_000391.3:c.534A>T NP_000382.3:p.Pro178=
NM_000391.4:c.534A>T MANE Select NP_000382.3:p.Pro178=