Canonical Allele Identifier: CA379474726
Gene: TPP1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6616498G>C , CM000673.2:g.6616498G>C GRCh38
NC_000011.9:g.6637729G>C , CM000673.1:g.6637729G>C GRCh37
NC_000011.8:g.6594305G>C NCBI36
NG_008653.1:g.7964C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000682424.1:c.778C>G ENSP00000507321.1:p.His260Asp
ENST00000299427.12:c.892C>G MANE Select ENSP00000299427.6:p.His298Asp
ENST00000436873.7:c.313-424C>G
ENST00000530040.2:n.485C>G
ENST00000533371.6:c.163C>G ENSP00000437066.1:p.His55Asp
ENST00000642892.1:c.163C>G ENSP00000494165.1:p.His55Asp
ENST00000643439.1:c.*632C>G ENSP00000495849.1:n.*632C>G
ENST00000643479.1:n.1078C>G
ENST00000643516.1:c.401C>G
ENST00000644218.1:c.886+163C>G ENSP00000493574.1:n.886+163C>G
ENST00000644683.1:c.*345C>G ENSP00000494085.1:n.*345C>G
ENST00000644810.1:c.613C>G ENSP00000495895.1:p.His205Asp
ENST00000644831.1:n.1068C>G
ENST00000644933.1:c.163C>G ENSP00000496133.1:p.His55Asp
ENST00000645285.1:c.157+163C>G ENSP00000495058.1:n.157+163C>G
ENST00000645331.1:n.1415C>G
ENST00000645620.1:c.163C>G ENSP00000493657.1:p.His55Asp
ENST00000646777.1:n.1225C>G
ENST00000647016.1:n.1372C>G
ENST00000647152.1:c.163C>G ENSP00000495893.1:p.His55Asp
ENST00000647209.1:c.*761C>G ENSP00000495558.1:n.*761C>G
ENST00000647346.1:n.1912C>G
ENST00000299427.10:c.892C>G ENSP00000299427.6:p.His298Asp
ENST00000436873.6:c.456C>G ENSP00000398136.2:p.Gly152=
ENST00000533371.5:c.163C>G ENSP00000437066.1:p.His55Asp
ENST00000611494.4:c.892C>G ENSP00000484546.1:p.His298Asp
NM_000391.3:c.892C>G NP_000382.3:p.His298Asp
NM_000391.4:c.892C>G MANE Select NP_000382.3:p.His298Asp