Canonical Allele Identifier: CA472922744
Gene: TPP1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.6638301G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6617070G>A , CM000673.2:g.6617070G>A GRCh38
NC_000011.9:g.6638301G>A , CM000673.1:g.6638301G>A GRCh37
NC_000011.8:g.6594877G>A NCBI36
NG_008653.1:g.7392C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000682424.1:c.478C>T ENSP00000507321.1:p.Leu160=
ENST00000299427.12:c.592C>T MANE Select ENSP00000299427.6:p.Leu198=
ENST00000428886.7:n.827C>T
ENST00000436873.7:c.312+231C>T
ENST00000524788.2:n.1751C>T
ENST00000524903.2:n.1867C>T
ENST00000528807.2:n.248C>T
ENST00000530040.2:n.479+289C>T
ENST00000533371.6:c.-138C>T ENSP00000437066.1:n.-138C>T
ENST00000534644.6:n.540C>T
ENST00000642892.1:c.-138C>T ENSP00000494165.1:n.-138C>T
ENST00000643439.1:c.*332C>T ENSP00000495849.1:n.*332C>T
ENST00000643479.1:n.621C>T
ENST00000643516.1:c.395+231C>T
ENST00000644151.1:n.2031C>T
ENST00000644218.1:c.592C>T ENSP00000493574.1:p.Leu198=
ENST00000644683.1:c.*45C>T ENSP00000494085.1:n.*45C>T
ENST00000644810.1:c.313C>T ENSP00000495895.1:p.Leu105=
ENST00000644831.1:n.768C>T
ENST00000644933.1:c.-138C>T ENSP00000496133.1:n.-138C>T
ENST00000645020.1:n.1767C>T
ENST00000645285.1:c.-138C>T ENSP00000495058.1:n.-138C>T
ENST00000645331.1:n.958C>T
ENST00000645620.1:c.-138C>T ENSP00000493657.1:n.-138C>T
ENST00000646777.1:n.768C>T
ENST00000647016.1:n.1072C>T
ENST00000647152.1:c.-138C>T ENSP00000495893.1:n.-138C>T
ENST00000647209.1:c.*461C>T ENSP00000495558.1:n.*461C>T
ENST00000647346.1:n.1612C>T
ENST00000299427.10:c.592C>T ENSP00000299427.6:p.Leu198=
ENST00000428886.6:n.761C>T
ENST00000436873.6:c.450+289C>T ENSP00000398136.2:n.450+289C>T
ENST00000524788.1:n.292C>T
ENST00000528571.5:c.*332C>T ENSP00000434647.1:n.*332C>T
ENST00000528807.1:n.142C>T
ENST00000533371.5:c.-138C>T ENSP00000437066.1:n.-138C>T
ENST00000534644.5:n.577C>T
ENST00000611494.4:c.592C>T ENSP00000484546.1:p.Leu198=
NM_000391.3:c.592C>T NP_000382.3:p.Leu198=
NM_000391.4:c.592C>T MANE Select NP_000382.3:p.Leu198=