Canonical Allele Identifier: CA472769680
Gene: TPP1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.6635894G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6614663G>A , CM000673.2:g.6614663G>A GRCh38
NC_000011.9:g.6635894G>A , CM000673.1:g.6635894G>A GRCh37
NC_000011.8:g.6592470G>A NCBI36
NG_008653.1:g.9799C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000682424.1:c.1461C>T ENSP00000507321.1:p.Ser487=
ENST00000299427.12:c.1575C>T MANE Select ENSP00000299427.6:p.Ser525=
ENST00000524611.2:n.614C>T
ENST00000524924.2:n.695C>T
ENST00000533371.6:c.846C>T ENSP00000437066.1:p.Ser282=
ENST00000642892.1:c.846C>T ENSP00000494165.1:p.Ser282=
ENST00000643342.1:c.648C>T
ENST00000643439.1:c.*1315C>T ENSP00000495849.1:n.*1315C>T
ENST00000643479.1:n.1761C>T
ENST00000643516.1:c.1084C>T
ENST00000644218.1:c.1386C>T ENSP00000493574.1:p.Ser462=
ENST00000644683.1:c.*1028C>T ENSP00000494085.1:n.*1028C>T
ENST00000644810.1:c.1296C>T ENSP00000495895.1:p.Ser432=
ENST00000644831.1:n.1751C>T
ENST00000644933.1:c.*441C>T ENSP00000496133.1:n.*441C>T
ENST00000645285.1:c.*441C>T ENSP00000495058.1:n.*441C>T
ENST00000645331.1:n.2780C>T
ENST00000645620.1:c.846C>T ENSP00000493657.1:p.Ser282=
ENST00000646691.1:n.1462C>T
ENST00000646777.1:n.1908C>T
ENST00000647016.1:n.2055C>T
ENST00000647152.1:c.846C>T ENSP00000495893.1:p.Ser282=
ENST00000647209.1:c.*1444C>T ENSP00000495558.1:n.*1444C>T
ENST00000647346.1:n.2595C>T
ENST00000299427.10:c.1575C>T ENSP00000299427.6:p.Ser525=
ENST00000524611.1:n.453C>T
ENST00000533371.5:c.846C>T ENSP00000437066.1:p.Ser282=
ENST00000611494.4:c.1575C>T ENSP00000484546.1:p.Ser525=
NM_000391.3:c.1575C>T NP_000382.3:p.Ser525=
NM_000391.4:c.1575C>T MANE Select NP_000382.3:p.Ser525=