Canonical Allele Identifier: CA379475912
Gene: TPP1 HGNC NCBI

Linked Data

dbSNP Id: rs1433967549
gnomAD v2: 11-6638606-G-T
gnomAD v4: 11-6617375-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6617375G>T , CM000673.2:g.6617375G>T GRCh38
NC_000011.9:g.6638606G>T , CM000673.1:g.6638606G>T GRCh37
NC_000011.8:g.6595182G>T NCBI36
NG_008653.1:g.7087C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000682424.1:c.320C>A ENSP00000507321.1:p.Pro107His
ENST00000299427.12:c.434C>A MANE Select ENSP00000299427.6:p.Pro145His
ENST00000428886.7:n.522C>A
ENST00000436873.7:c.238C>A
ENST00000524788.2:n.1446C>A
ENST00000524903.2:n.1562C>A
ENST00000528571.6:c.*174C>A ENSP00000434647.1:n.*174C>A
ENST00000528807.2:n.90C>A
ENST00000530040.2:n.463C>A
ENST00000533371.6:c.-296C>A ENSP00000437066.1:n.-296C>A
ENST00000534644.6:n.435C>A
ENST00000642892.1:c.-243C>A ENSP00000494165.1:n.-243C>A
ENST00000643439.1:c.*174C>A ENSP00000495849.1:n.*174C>A
ENST00000643479.1:n.463C>A
ENST00000643516.1:c.321C>A
ENST00000644151.1:n.1726C>A
ENST00000644218.1:c.434C>A ENSP00000493574.1:p.Pro145His
ENST00000644683.1:c.434C>A ENSP00000494085.1:p.Pro145His
ENST00000644810.1:c.230-222C>A ENSP00000495895.1:n.230-222C>A
ENST00000644831.1:n.463C>A
ENST00000644933.1:c.-296C>A ENSP00000496133.1:n.-296C>A
ENST00000645020.1:n.1462C>A
ENST00000645285.1:c.-296C>A ENSP00000495058.1:n.-296C>A
ENST00000645331.1:n.653C>A
ENST00000645620.1:c.-238C>A ENSP00000493657.1:n.-238C>A
ENST00000646777.1:n.463C>A
ENST00000647016.1:n.767C>A
ENST00000647152.1:c.-296C>A ENSP00000495893.1:n.-296C>A
ENST00000647209.1:c.*303C>A ENSP00000495558.1:n.*303C>A
ENST00000647346.1:n.1454C>A
ENST00000299427.10:c.434C>A ENSP00000299427.6:p.Pro145His
ENST00000428886.6:n.456C>A
ENST00000436873.6:c.434C>A ENSP00000398136.2:p.Pro145His
ENST00000528571.5:c.*174C>A ENSP00000434647.1:n.*174C>A
ENST00000530040.1:n.546C>A
ENST00000533371.5:c.-296C>A ENSP00000437066.1:n.-296C>A
ENST00000534644.5:n.419C>A
ENST00000611494.4:c.434C>A ENSP00000484546.1:p.Pro145His
NM_000391.3:c.434C>A NP_000382.3:p.Pro145His
NM_000391.4:c.434C>A MANE Select NP_000382.3:p.Pro145His