Canonical Allele Identifier: CA379472043
Gene: TPP1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6614601G>T , CM000673.2:g.6614601G>T GRCh38
NC_000011.9:g.6635832G>T , CM000673.1:g.6635832G>T GRCh37
NC_000011.8:g.6592408G>T NCBI36
NG_008653.1:g.9861C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000682424.1:c.1523C>A ENSP00000507321.1:p.Thr508Lys
ENST00000299427.12:c.1637C>A MANE Select ENSP00000299427.6:p.Thr546Lys
ENST00000524611.2:n.676C>A
ENST00000524924.2:n.757C>A
ENST00000533371.6:c.908C>A ENSP00000437066.1:p.Thr303Lys
ENST00000642892.1:c.908C>A ENSP00000494165.1:p.Thr303Lys
ENST00000643342.1:c.710C>A
ENST00000643439.1:c.*1377C>A ENSP00000495849.1:n.*1377C>A
ENST00000643479.1:n.1823C>A
ENST00000643516.1:c.1146C>A
ENST00000644218.1:c.1448C>A ENSP00000493574.1:p.Thr483Lys
ENST00000644683.1:c.*1090C>A ENSP00000494085.1:n.*1090C>A
ENST00000644810.1:c.1358C>A ENSP00000495895.1:p.Thr453Lys
ENST00000644831.1:n.1813C>A
ENST00000644933.1:c.*503C>A ENSP00000496133.1:n.*503C>A
ENST00000645285.1:c.*503C>A ENSP00000495058.1:n.*503C>A
ENST00000645331.1:n.2842C>A
ENST00000645620.1:c.908C>A ENSP00000493657.1:p.Thr303Lys
ENST00000646691.1:n.1524C>A
ENST00000646777.1:n.1970C>A
ENST00000647016.1:n.2117C>A
ENST00000647152.1:c.908C>A ENSP00000495893.1:p.Thr303Lys
ENST00000647209.1:c.*1506C>A ENSP00000495558.1:n.*1506C>A
ENST00000647346.1:n.2657C>A
ENST00000299427.10:c.1637C>A ENSP00000299427.6:p.Thr546Lys
ENST00000533371.5:c.908C>A ENSP00000437066.1:p.Thr303Lys
ENST00000611494.4:c.1637C>A ENSP00000484546.1:p.Thr546Lys
NM_000391.3:c.1637C>A NP_000382.3:p.Thr546Lys
NM_000391.4:c.1637C>A MANE Select NP_000382.3:p.Thr546Lys