Canonical Allele Identifier: CA472768897
Gene: TPP1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.6635780G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6614549G>C , CM000673.2:g.6614549G>C GRCh38
NC_000011.9:g.6635780G>C , CM000673.1:g.6635780G>C GRCh37
NC_000011.8:g.6592356G>C NCBI36
NG_008653.1:g.9913C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000682424.1:c.1575C>G ENSP00000507321.1:p.Pro525=
ENST00000299427.12:c.1689C>G MANE Select ENSP00000299427.6:p.Pro563=
ENST00000524611.2:n.728C>G
ENST00000533371.6:c.960C>G ENSP00000437066.1:p.Pro320=
ENST00000642892.1:c.960C>G ENSP00000494165.1:p.Pro320=
ENST00000643342.1:c.762C>G
ENST00000643439.1:c.*1429C>G ENSP00000495849.1:n.*1429C>G
ENST00000643479.1:n.1875C>G
ENST00000643516.1:c.1198C>G
ENST00000644218.1:c.1500C>G ENSP00000493574.1:p.Pro500=
ENST00000644683.1:c.*1142C>G ENSP00000494085.1:n.*1142C>G
ENST00000644810.1:c.1410C>G ENSP00000495895.1:p.Pro470=
ENST00000644831.1:n.1865C>G
ENST00000644933.1:c.*555C>G ENSP00000496133.1:n.*555C>G
ENST00000645285.1:c.*555C>G ENSP00000495058.1:n.*555C>G
ENST00000645331.1:n.2894C>G
ENST00000645620.1:c.960C>G ENSP00000493657.1:p.Pro320=
ENST00000646691.1:n.1576C>G
ENST00000646777.1:n.2022C>G
ENST00000647016.1:n.2169C>G
ENST00000647152.1:c.960C>G ENSP00000495893.1:p.Pro320=
ENST00000647209.1:c.*1558C>G ENSP00000495558.1:n.*1558C>G
ENST00000647346.1:n.2709C>G
ENST00000299427.10:c.1689C>G ENSP00000299427.6:p.Pro563=
ENST00000533371.5:c.960C>G ENSP00000437066.1:p.Pro320=
ENST00000611494.4:c.*17C>G ENSP00000484546.1:n.*17C>G
NM_000391.3:c.1689C>G NP_000382.3:p.Pro563=
NM_000391.4:c.1689C>G MANE Select NP_000382.3:p.Pro563=