Canonical Allele Identifier: CA379475959
Gene: TPP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1038577
ClinVar RCV Id: RCV001341906
dbSNP Id: rs1057521538

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6617389G>T , CM000673.2:g.6617389G>T GRCh38
NC_000011.9:g.6638620G>T , CM000673.1:g.6638620G>T GRCh37
NC_000011.8:g.6595196G>T NCBI36
NG_008653.1:g.7073C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000682424.1:c.306C>A ENSP00000507321.1:p.His102Gln
ENST00000299427.12:c.420C>A MANE Select ENSP00000299427.6:p.His140Gln
ENST00000428886.7:n.508C>A
ENST00000436873.7:c.224C>A
ENST00000524788.2:n.1432C>A
ENST00000524903.2:n.1548C>A
ENST00000528571.6:c.*160C>A ENSP00000434647.1:n.*160C>A
ENST00000528807.2:n.76C>A
ENST00000530040.2:n.449C>A
ENST00000533371.6:c.-310C>A ENSP00000437066.1:n.-310C>A
ENST00000534644.6:n.421C>A
ENST00000642892.1:c.-257C>A ENSP00000494165.1:n.-257C>A
ENST00000643439.1:c.*160C>A ENSP00000495849.1:n.*160C>A
ENST00000643479.1:n.449C>A
ENST00000643516.1:c.307C>A
ENST00000644151.1:n.1712C>A
ENST00000644218.1:c.420C>A ENSP00000493574.1:p.His140Gln
ENST00000644683.1:c.420C>A ENSP00000494085.1:p.His140Gln
ENST00000644810.1:c.230-236C>A ENSP00000495895.1:n.230-236C>A
ENST00000644831.1:n.449C>A
ENST00000644933.1:c.-310C>A ENSP00000496133.1:n.-310C>A
ENST00000645020.1:n.1448C>A
ENST00000645285.1:c.-310C>A ENSP00000495058.1:n.-310C>A
ENST00000645331.1:n.639C>A
ENST00000645620.1:c.-252C>A ENSP00000493657.1:n.-252C>A
ENST00000646777.1:n.449C>A
ENST00000647016.1:n.753C>A
ENST00000647152.1:c.-310C>A ENSP00000495893.1:n.-310C>A
ENST00000647209.1:c.*289C>A ENSP00000495558.1:n.*289C>A
ENST00000647346.1:n.1440C>A
ENST00000299427.10:c.420C>A ENSP00000299427.6:p.His140Gln
ENST00000428886.6:n.442C>A
ENST00000436873.6:c.420C>A ENSP00000398136.2:p.His140Gln
ENST00000528571.5:c.*160C>A ENSP00000434647.1:n.*160C>A
ENST00000530040.1:n.532C>A
ENST00000533371.5:c.-310C>A ENSP00000437066.1:n.-310C>A
ENST00000534644.5:n.405C>A
ENST00000611494.4:c.420C>A ENSP00000484546.1:p.His140Gln
NM_000391.3:c.420C>A NP_000382.3:p.His140Gln
NM_000391.4:c.420C>A MANE Select NP_000382.3:p.His140Gln