Canonical Allele Identifier: CA16041514
Gene: TPP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 371488
ClinVar RCV Id: RCV000410935
dbSNP Id: rs1057517313

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6616729del , CM000673.2:g.6616729del GRCh38
NC_000011.9:g.6637960del , CM000673.1:g.6637960del GRCh37
NC_000011.8:g.6594536del NCBI36
NG_008653.1:g.7734del

Transcript Alleles

HGVS Amino-acid change
ENST00000682424.1:c.705del ENSP00000507321.1:p.Ser236ValfsTer2
ENST00000299427.12:c.819del MANE Select ENSP00000299427.6:p.Ser274ValfsTer2
ENST00000436873.7:c.312+573del
ENST00000524788.2:n.1978del
ENST00000524903.2:n.2094del
ENST00000528807.2:n.475del
ENST00000530040.2:n.480-225del
ENST00000533371.6:c.90del ENSP00000437066.1:p.Ser31ValfsTer2
ENST00000642892.1:c.90del ENSP00000494165.1:p.Ser31ValfsTer2
ENST00000643439.1:c.*559del ENSP00000495849.1:n.*559del
ENST00000643479.1:n.848del
ENST00000643516.1:c.396-225del
ENST00000644151.1:n.2258del
ENST00000644218.1:c.819del ENSP00000493574.1:p.Ser274ValfsTer2
ENST00000644683.1:c.*272del ENSP00000494085.1:n.*272del
ENST00000644810.1:c.540del ENSP00000495895.1:p.Ser181ValfsTer2
ENST00000644831.1:n.995del
ENST00000644933.1:c.90del ENSP00000496133.1:p.Ser31ValfsTer2
ENST00000645020.1:n.2109del
ENST00000645285.1:c.90del ENSP00000495058.1:p.Ser31ValfsTer2
ENST00000645331.1:n.1185del
ENST00000645620.1:c.90del ENSP00000493657.1:p.Ser31ValfsTer2
ENST00000646777.1:n.995del
ENST00000647016.1:n.1299del
ENST00000647152.1:c.90del ENSP00000495893.1:p.Ser31ValfsTer2
ENST00000647209.1:c.*688del ENSP00000495558.1:n.*688del
ENST00000647346.1:n.1839del
ENST00000299427.10:c.819del ENSP00000299427.6:p.Ser274ValfsTer2
ENST00000436873.6:c.451-225del ENSP00000398136.2:n.451-225del
ENST00000524788.1:n.519del
ENST00000528807.1:n.369del
ENST00000533371.5:c.90del ENSP00000437066.1:p.Ser31ValfsTer2
ENST00000611494.4:c.819del ENSP00000484546.1:p.Ser274ValfsTer2
NM_000391.3:c.819del NP_000382.3:p.Ser274ValfsTer2
NM_000391.4:c.819del MANE Select NP_000382.3:p.Ser274ValfsTer2