Canonical Allele Identifier: CA472772920
Gene: TPP1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.6637259G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6616028G>A , CM000673.2:g.6616028G>A GRCh38
NC_000011.9:g.6637259G>A , CM000673.1:g.6637259G>A GRCh37
NC_000011.8:g.6593835G>A NCBI36
NG_008653.1:g.8434C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000682424.1:c.1008C>T ENSP00000507321.1:p.Phe336=
ENST00000299427.12:c.1122C>T MANE Select ENSP00000299427.6:p.Phe374=
ENST00000436873.7:c.359C>T
ENST00000524924.2:n.242C>T
ENST00000533371.6:c.393C>T ENSP00000437066.1:p.Phe131=
ENST00000642892.1:c.393C>T ENSP00000494165.1:p.Phe131=
ENST00000643342.1:c.212C>T
ENST00000643439.1:c.*862C>T ENSP00000495849.1:n.*862C>T
ENST00000643479.1:n.1308C>T
ENST00000643516.1:c.631C>T
ENST00000644218.1:c.933C>T ENSP00000493574.1:p.Phe311=
ENST00000644683.1:c.*575C>T ENSP00000494085.1:n.*575C>T
ENST00000644810.1:c.843C>T ENSP00000495895.1:p.Phe281=
ENST00000644831.1:n.1298C>T
ENST00000644933.1:c.393C>T ENSP00000496133.1:p.Phe131=
ENST00000645285.1:c.204C>T ENSP00000495058.1:p.Phe68=
ENST00000645331.1:n.1885C>T
ENST00000645620.1:c.393C>T ENSP00000493657.1:p.Phe131=
ENST00000646691.1:n.455C>T
ENST00000646777.1:n.1455C>T
ENST00000647016.1:n.1602C>T
ENST00000647152.1:c.393C>T ENSP00000495893.1:p.Phe131=
ENST00000647209.1:c.*991C>T ENSP00000495558.1:n.*991C>T
ENST00000647346.1:n.2142C>T
ENST00000299427.10:c.1122C>T ENSP00000299427.6:p.Phe374=
ENST00000524924.1:n.77C>T
ENST00000533371.5:c.393C>T ENSP00000437066.1:p.Phe131=
ENST00000611494.4:c.1122C>T ENSP00000484546.1:p.Phe374=
NM_000391.3:c.1122C>T NP_000382.3:p.Phe374=
NM_000391.4:c.1122C>T MANE Select NP_000382.3:p.Phe374=