Canonical Allele Identifier: CA379472915
Gene: TPP1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6615471T>C , CM000673.2:g.6615471T>C GRCh38
NC_000011.9:g.6636702T>C , CM000673.1:g.6636702T>C GRCh37
NC_000011.8:g.6593278T>C NCBI36
NG_008653.1:g.8991A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000682424.1:c.1123A>G ENSP00000507321.1:p.Ser375Gly
ENST00000299427.12:c.1237A>G MANE Select ENSP00000299427.6:p.Ser413Gly
ENST00000436873.7:c.474A>G
ENST00000524924.2:n.357A>G
ENST00000533371.6:c.508A>G ENSP00000437066.1:p.Ser170Gly
ENST00000642892.1:c.508A>G ENSP00000494165.1:p.Ser170Gly
ENST00000643342.1:c.310A>G
ENST00000643439.1:c.*977A>G ENSP00000495849.1:n.*977A>G
ENST00000643479.1:n.1423A>G
ENST00000643516.1:c.746A>G
ENST00000644218.1:c.1048A>G ENSP00000493574.1:p.Ser350Gly
ENST00000644683.1:c.*690A>G ENSP00000494085.1:n.*690A>G
ENST00000644810.1:c.958A>G ENSP00000495895.1:p.Ser320Gly
ENST00000644831.1:n.1413A>G
ENST00000644933.1:c.*103A>G ENSP00000496133.1:n.*103A>G
ENST00000645285.1:c.*103A>G ENSP00000495058.1:n.*103A>G
ENST00000645331.1:n.2442A>G
ENST00000645620.1:c.508A>G ENSP00000493657.1:p.Ser170Gly
ENST00000646691.1:n.1012A>G
ENST00000646777.1:n.1570A>G
ENST00000647016.1:n.1717A>G
ENST00000647152.1:c.508A>G ENSP00000495893.1:p.Ser170Gly
ENST00000647209.1:c.*1106A>G ENSP00000495558.1:n.*1106A>G
ENST00000647346.1:n.2257A>G
ENST00000299427.10:c.1237A>G ENSP00000299427.6:p.Ser413Gly
ENST00000524611.1:n.3A>G
ENST00000524924.1:n.192A>G
ENST00000532191.1:n.290A>G
ENST00000533371.5:c.508A>G ENSP00000437066.1:p.Ser170Gly
ENST00000611494.4:c.1237A>G ENSP00000484546.1:p.Ser413Gly
NM_000391.3:c.1237A>G NP_000382.3:p.Ser413Gly
NM_000391.4:c.1237A>G MANE Select NP_000382.3:p.Ser413Gly