Canonical Allele Identifier: CA1950237607
Gene: TPP1 HGNC NCBI

Linked Data

dbSNP Id: rs777514467
gnomAD v4: 11-6616940-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6616940G>T , CM000673.2:g.6616940G>T GRCh38
NC_000011.9:g.6638171G>T , CM000673.1:g.6638171G>T GRCh37
NC_000011.8:g.6594747G>T NCBI36
NG_008653.1:g.7522C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000682424.1:c.573+35C>A ENSP00000507321.1:n.573+35C>A
ENST00000299427.12:c.687+35C>A MANE Select ENSP00000299427.6:n.687+35C>A
ENST00000436873.7:c.312+361C>A
ENST00000524788.2:n.1846+35C>A
ENST00000524903.2:n.1962+35C>A
ENST00000528807.2:n.343+35C>A
ENST00000530040.2:n.479+419C>A
ENST00000533371.6:c.-43+35C>A ENSP00000437066.1:n.-43+35C>A
ENST00000642892.1:c.-43+35C>A ENSP00000494165.1:n.-43+35C>A
ENST00000643439.1:c.*427+35C>A ENSP00000495849.1:n.*427+35C>A
ENST00000643479.1:n.716+35C>A
ENST00000643516.1:c.395+361C>A
ENST00000644151.1:n.2126+35C>A
ENST00000644218.1:c.687+35C>A ENSP00000493574.1:n.687+35C>A
ENST00000644683.1:c.*140+35C>A ENSP00000494085.1:n.*140+35C>A
ENST00000644810.1:c.408+35C>A ENSP00000495895.1:n.408+35C>A
ENST00000644831.1:n.863+35C>A
ENST00000644933.1:c.-43+35C>A ENSP00000496133.1:n.-43+35C>A
ENST00000645020.1:n.1897C>A
ENST00000645285.1:c.-43+35C>A ENSP00000495058.1:n.-43+35C>A
ENST00000645331.1:n.1053+35C>A
ENST00000645620.1:c.-43+35C>A ENSP00000493657.1:n.-43+35C>A
ENST00000646777.1:n.863+35C>A
ENST00000647016.1:n.1167+35C>A
ENST00000647152.1:c.-43+35C>A ENSP00000495893.1:n.-43+35C>A
ENST00000647209.1:c.*556+35C>A ENSP00000495558.1:n.*556+35C>A
ENST00000647346.1:n.1707+35C>A
ENST00000299427.10:c.687+35C>A ENSP00000299427.6:n.687+35C>A
ENST00000436873.6:c.450+419C>A ENSP00000398136.2:n.450+419C>A
ENST00000524788.1:n.387+35C>A
ENST00000528807.1:n.237+35C>A
ENST00000533371.5:c.-43+35C>A ENSP00000437066.1:n.-43+35C>A
ENST00000611494.4:c.687+35C>A ENSP00000484546.1:n.687+35C>A
NM_000391.3:c.687+35C>A NP_000382.3:n.687+35C>A
NM_000391.4:c.687+35C>A MANE Select NP_000382.3:n.687+35C>A