Canonical Allele Identifier: CA3183114508
Community Standard Title: NM_000391.4(TPP1):c.609T= (p.Ser203=)
Gene: TPP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6617053A= , CM000673.2:g.6617053A= GRCh38
NC_000011.9:g.6638284A= , CM000673.1:g.6638284A= GRCh37
NC_000011.8:g.6594860A= NCBI36
NG_008653.1:g.7409T=

Transcript Alleles

HGVS Amino-acid Change
NM_000391.4:c.609T= MANE Select NP_000382.3:p.Ser203=
ENST00000299427.12:c.609T= MANE Select ENSP00000299427.6:p.Ser203=
NM_000391.3:c.609T= NP_000382.3:p.Ser203=
ENST00000299427.10:c.609T= ENSP00000299427.6:p.Ser203=
ENST00000428886.6:n.778T=
ENST00000436873.6:c.450+306T= ENSP00000398136.2:n.450+306T=
ENST00000436873.7:c.312+248T=
ENST00000524788.1:n.309T=
ENST00000524788.2:n.1768T=
ENST00000524903.2:n.1884T=
ENST00000528571.5:c.*349T= ENSP00000434647.1:n.*349T=
ENST00000528807.1:n.159T=
ENST00000528807.2:n.265T=
ENST00000530040.2:n.479+306T=
ENST00000533371.5:c.-121T= ENSP00000437066.1:n.-121T=
ENST00000533371.6:c.-121T= ENSP00000437066.1:n.-121T=
ENST00000534644.5:n.594T=
ENST00000534644.6:n.557T=
ENST00000611494.4:c.609T= ENSP00000484546.1:p.Ser203=
ENST00000642892.1:c.-121T= ENSP00000494165.1:n.-121T=
ENST00000643439.1:c.*349T= ENSP00000495849.1:n.*349T=
ENST00000643479.1:n.638T=
ENST00000643516.1:c.395+248T=
ENST00000644151.1:n.2048T=
ENST00000644218.1:c.609T= ENSP00000493574.1:p.Ser203=
ENST00000644683.1:c.*62T= ENSP00000494085.1:n.*62T=
ENST00000644810.1:c.330T= ENSP00000495895.1:p.Ser110=
ENST00000644831.1:n.785T=
ENST00000644933.1:c.-121T= ENSP00000496133.1:n.-121T=
ENST00000645020.1:n.1784T=
ENST00000645285.1:c.-121T= ENSP00000495058.1:n.-121T=
ENST00000645331.1:n.975T=
ENST00000645620.1:c.-121T= ENSP00000493657.1:n.-121T=
ENST00000646777.1:n.785T=
ENST00000647016.1:n.1089T=
ENST00000647152.1:c.-121T= ENSP00000495893.1:n.-121T=
ENST00000647209.1:c.*478T= ENSP00000495558.1:n.*478T=
ENST00000647346.1:n.1629T=
ENST00000682424.1:c.495T= ENSP00000507321.1:p.Ser165=