Canonical Allele Identifier: CA217323353
Gene: TPP1 HGNC NCBI

Linked Data

dbSNP Id: rs143313287

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6616993dup , CM000673.2:g.6616993dup GRCh38
NC_000011.9:g.6638224dup , CM000673.1:g.6638224dup GRCh37
NC_000011.8:g.6594800dup NCBI36
NG_008653.1:g.7469dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000682424.1:c.555dup ENSP00000507321.1:p.Ser186GlnfsTer14
ENST00000299427.12:c.669dup MANE Select ENSP00000299427.6:p.Ser224GlnfsTer14
ENST00000436873.7:c.312+308dup
ENST00000524788.2:n.1828dup
ENST00000524903.2:n.1944dup
ENST00000528807.2:n.325dup
ENST00000530040.2:n.479+366dup
ENST00000533371.6:c.-61dup ENSP00000437066.1:n.-61dup
ENST00000534644.6:n.617dup
ENST00000642892.1:c.-61dup ENSP00000494165.1:n.-61dup
ENST00000643439.1:c.*409dup ENSP00000495849.1:n.*409dup
ENST00000643479.1:n.698dup
ENST00000643516.1:c.395+308dup
ENST00000644151.1:n.2108dup
ENST00000644218.1:c.669dup ENSP00000493574.1:p.Ser224GlnfsTer14
ENST00000644683.1:c.*122dup ENSP00000494085.1:n.*122dup
ENST00000644810.1:c.390dup ENSP00000495895.1:p.Ser131GlnfsTer14
ENST00000644831.1:n.845dup
ENST00000644933.1:c.-61dup ENSP00000496133.1:n.-61dup
ENST00000645020.1:n.1844dup
ENST00000645285.1:c.-61dup ENSP00000495058.1:n.-61dup
ENST00000645331.1:n.1035dup
ENST00000645620.1:c.-61dup ENSP00000493657.1:n.-61dup
ENST00000646777.1:n.845dup
ENST00000647016.1:n.1149dup
ENST00000647152.1:c.-61dup ENSP00000495893.1:n.-61dup
ENST00000647209.1:c.*538dup ENSP00000495558.1:n.*538dup
ENST00000647346.1:n.1689dup
ENST00000299427.10:c.669dup ENSP00000299427.6:p.Ser224GlnfsTer14
ENST00000428886.6:n.838dup
ENST00000436873.6:c.450+366dup ENSP00000398136.2:n.450+366dup
ENST00000524788.1:n.369dup
ENST00000528571.5:c.*409dup ENSP00000434647.1:n.*409dup
ENST00000528807.1:n.219dup
ENST00000533371.5:c.-61dup ENSP00000437066.1:n.-61dup
ENST00000611494.4:c.669dup ENSP00000484546.1:p.Ser224GlnfsTer14
NM_000391.3:c.669dup NP_000382.3:p.Ser224GlnfsTer14
NM_000391.4:c.669dup MANE Select NP_000382.3:p.Ser224GlnfsTer14