Canonical Allele Identifier: CA2612257225
Gene: TPP1 HGNC NCBI

Linked Data

gnomAD v4: 11-6615435-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6615435C>T , CM000673.2:g.6615435C>T GRCh38
NC_000011.9:g.6636666C>T , CM000673.1:g.6636666C>T GRCh37
NC_000011.8:g.6593242C>T NCBI36
NG_008653.1:g.9027G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000682424.1:c.1152+7G>A ENSP00000507321.1:n.1152+7G>A
ENST00000299427.12:c.1266+7G>A MANE Select ENSP00000299427.6:n.1266+7G>A
ENST00000436873.7:c.503+7G>A
ENST00000524611.2:n.21G>A
ENST00000524924.2:n.386+7G>A
ENST00000533371.6:c.537+7G>A ENSP00000437066.1:n.537+7G>A
ENST00000642892.1:c.537+7G>A ENSP00000494165.1:n.537+7G>A
ENST00000643342.1:c.339+7G>A
ENST00000643439.1:c.*1006+7G>A ENSP00000495849.1:n.*1006+7G>A
ENST00000643479.1:n.1452+7G>A
ENST00000643516.1:c.775+7G>A
ENST00000644218.1:c.1077+7G>A ENSP00000493574.1:n.1077+7G>A
ENST00000644683.1:c.*719+7G>A ENSP00000494085.1:n.*719+7G>A
ENST00000644810.1:c.987+7G>A ENSP00000495895.1:n.987+7G>A
ENST00000644831.1:n.1442+7G>A
ENST00000644933.1:c.*132+7G>A ENSP00000496133.1:n.*132+7G>A
ENST00000645285.1:c.*132+7G>A ENSP00000495058.1:n.*132+7G>A
ENST00000645331.1:n.2471+7G>A
ENST00000645620.1:c.537+7G>A ENSP00000493657.1:n.537+7G>A
ENST00000646691.1:n.1048G>A
ENST00000646777.1:n.1599+7G>A
ENST00000647016.1:n.1746+7G>A
ENST00000647152.1:c.537+7G>A ENSP00000495893.1:n.537+7G>A
ENST00000647209.1:c.*1135+7G>A ENSP00000495558.1:n.*1135+7G>A
ENST00000647346.1:n.2286+7G>A
ENST00000299427.10:c.1266+7G>A ENSP00000299427.6:n.1266+7G>A
ENST00000524611.1:n.39G>A
ENST00000524924.1:n.221+7G>A
ENST00000532191.1:n.319+7G>A
ENST00000533371.5:c.537+7G>A ENSP00000437066.1:n.537+7G>A
ENST00000611494.4:c.1266+7G>A ENSP00000484546.1:n.1266+7G>A
NM_000391.3:c.1266+7G>A NP_000382.3:n.1266+7G>A
NM_000391.4:c.1266+7G>A MANE Select NP_000382.3:n.1266+7G>A