Canonical Allele Identifier: CA472769252
Gene: TPP1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.6635834T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6614603T>A , CM000673.2:g.6614603T>A GRCh38
NC_000011.9:g.6635834T>A , CM000673.1:g.6635834T>A GRCh37
NC_000011.8:g.6592410T>A NCBI36
NG_008653.1:g.9859A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000682424.1:c.1521A>T ENSP00000507321.1:p.Val507=
ENST00000299427.12:c.1635A>T MANE Select ENSP00000299427.6:p.Val545=
ENST00000524611.2:n.674A>T
ENST00000524924.2:n.755A>T
ENST00000533371.6:c.906A>T ENSP00000437066.1:p.Val302=
ENST00000642892.1:c.906A>T ENSP00000494165.1:p.Val302=
ENST00000643342.1:c.708A>T
ENST00000643439.1:c.*1375A>T ENSP00000495849.1:n.*1375A>T
ENST00000643479.1:n.1821A>T
ENST00000643516.1:c.1144A>T
ENST00000644218.1:c.1446A>T ENSP00000493574.1:p.Val482=
ENST00000644683.1:c.*1088A>T ENSP00000494085.1:n.*1088A>T
ENST00000644810.1:c.1356A>T ENSP00000495895.1:p.Val452=
ENST00000644831.1:n.1811A>T
ENST00000644933.1:c.*501A>T ENSP00000496133.1:n.*501A>T
ENST00000645285.1:c.*501A>T ENSP00000495058.1:n.*501A>T
ENST00000645331.1:n.2840A>T
ENST00000645620.1:c.906A>T ENSP00000493657.1:p.Val302=
ENST00000646691.1:n.1522A>T
ENST00000646777.1:n.1968A>T
ENST00000647016.1:n.2115A>T
ENST00000647152.1:c.906A>T ENSP00000495893.1:p.Val302=
ENST00000647209.1:c.*1504A>T ENSP00000495558.1:n.*1504A>T
ENST00000647346.1:n.2655A>T
ENST00000299427.10:c.1635A>T ENSP00000299427.6:p.Val545=
ENST00000533371.5:c.906A>T ENSP00000437066.1:p.Val302=
ENST00000611494.4:c.1635A>T ENSP00000484546.1:p.Val545=
NM_000391.3:c.1635A>T NP_000382.3:p.Val545=
NM_000391.4:c.1635A>T MANE Select NP_000382.3:p.Val545=