Canonical Allele Identifier: CA379475496
Gene: TPP1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6617069A>T , CM000673.2:g.6617069A>T GRCh38
NC_000011.9:g.6638300A>T , CM000673.1:g.6638300A>T GRCh37
NC_000011.8:g.6594876A>T NCBI36
NG_008653.1:g.7393T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000682424.1:c.479T>A ENSP00000507321.1:p.Leu160Gln
ENST00000299427.12:c.593T>A MANE Select ENSP00000299427.6:p.Leu198Gln
ENST00000428886.7:n.828T>A
ENST00000436873.7:c.312+232T>A
ENST00000524788.2:n.1752T>A
ENST00000524903.2:n.1868T>A
ENST00000528807.2:n.249T>A
ENST00000530040.2:n.479+290T>A
ENST00000533371.6:c.-137T>A ENSP00000437066.1:n.-137T>A
ENST00000534644.6:n.541T>A
ENST00000642892.1:c.-137T>A ENSP00000494165.1:n.-137T>A
ENST00000643439.1:c.*333T>A ENSP00000495849.1:n.*333T>A
ENST00000643479.1:n.622T>A
ENST00000643516.1:c.395+232T>A
ENST00000644151.1:n.2032T>A
ENST00000644218.1:c.593T>A ENSP00000493574.1:p.Leu198Gln
ENST00000644683.1:c.*46T>A ENSP00000494085.1:n.*46T>A
ENST00000644810.1:c.314T>A ENSP00000495895.1:p.Leu105Gln
ENST00000644831.1:n.769T>A
ENST00000644933.1:c.-137T>A ENSP00000496133.1:n.-137T>A
ENST00000645020.1:n.1768T>A
ENST00000645285.1:c.-137T>A ENSP00000495058.1:n.-137T>A
ENST00000645331.1:n.959T>A
ENST00000645620.1:c.-137T>A ENSP00000493657.1:n.-137T>A
ENST00000646777.1:n.769T>A
ENST00000647016.1:n.1073T>A
ENST00000647152.1:c.-137T>A ENSP00000495893.1:n.-137T>A
ENST00000647209.1:c.*462T>A ENSP00000495558.1:n.*462T>A
ENST00000647346.1:n.1613T>A
ENST00000299427.10:c.593T>A ENSP00000299427.6:p.Leu198Gln
ENST00000428886.6:n.762T>A
ENST00000436873.6:c.450+290T>A ENSP00000398136.2:n.450+290T>A
ENST00000524788.1:n.293T>A
ENST00000528571.5:c.*333T>A ENSP00000434647.1:n.*333T>A
ENST00000528807.1:n.143T>A
ENST00000533371.5:c.-137T>A ENSP00000437066.1:n.-137T>A
ENST00000534644.5:n.578T>A
ENST00000611494.4:c.593T>A ENSP00000484546.1:p.Leu198Gln
NM_000391.3:c.593T>A NP_000382.3:p.Leu198Gln
NM_000391.4:c.593T>A MANE Select NP_000382.3:p.Leu198Gln