Canonical Allele Identifier: CA379475544
Gene: TPP1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6617093A>T , CM000673.2:g.6617093A>T GRCh38
NC_000011.9:g.6638324A>T , CM000673.1:g.6638324A>T GRCh37
NC_000011.8:g.6594900A>T NCBI36
NG_008653.1:g.7369T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000682424.1:c.455T>A ENSP00000507321.1:p.Val152Glu
ENST00000299427.12:c.569T>A MANE Select ENSP00000299427.6:p.Val190Glu
ENST00000428886.7:n.804T>A
ENST00000436873.7:c.312+208T>A
ENST00000524788.2:n.1728T>A
ENST00000524903.2:n.1844T>A
ENST00000528807.2:n.225T>A
ENST00000530040.2:n.479+266T>A
ENST00000533371.6:c.-161T>A ENSP00000437066.1:n.-161T>A
ENST00000534644.6:n.517T>A
ENST00000642892.1:c.-161T>A ENSP00000494165.1:n.-161T>A
ENST00000643439.1:c.*309T>A ENSP00000495849.1:n.*309T>A
ENST00000643479.1:n.598T>A
ENST00000643516.1:c.395+208T>A
ENST00000644151.1:n.2008T>A
ENST00000644218.1:c.569T>A ENSP00000493574.1:p.Val190Glu
ENST00000644683.1:c.*22T>A ENSP00000494085.1:n.*22T>A
ENST00000644810.1:c.290T>A ENSP00000495895.1:p.Val97Glu
ENST00000644831.1:n.745T>A
ENST00000644933.1:c.-161T>A ENSP00000496133.1:n.-161T>A
ENST00000645020.1:n.1744T>A
ENST00000645285.1:c.-161T>A ENSP00000495058.1:n.-161T>A
ENST00000645331.1:n.935T>A
ENST00000645620.1:c.-161T>A ENSP00000493657.1:n.-161T>A
ENST00000646777.1:n.745T>A
ENST00000647016.1:n.1049T>A
ENST00000647152.1:c.-161T>A ENSP00000495893.1:n.-161T>A
ENST00000647209.1:c.*438T>A ENSP00000495558.1:n.*438T>A
ENST00000647346.1:n.1589T>A
ENST00000299427.10:c.569T>A ENSP00000299427.6:p.Val190Glu
ENST00000428886.6:n.738T>A
ENST00000436873.6:c.450+266T>A ENSP00000398136.2:n.450+266T>A
ENST00000524788.1:n.269T>A
ENST00000528571.5:c.*309T>A ENSP00000434647.1:n.*309T>A
ENST00000528807.1:n.119T>A
ENST00000533371.5:c.-161T>A ENSP00000437066.1:n.-161T>A
ENST00000534644.5:n.554T>A
ENST00000611494.4:c.569T>A ENSP00000484546.1:p.Val190Glu
NM_000391.3:c.569T>A NP_000382.3:p.Val190Glu
NM_000391.4:c.569T>A MANE Select NP_000382.3:p.Val190Glu