Canonical Allele Identifier: CA934783028
Gene: TPP1 HGNC NCBI

Linked Data

dbSNP Id: rs1855550263
gnomAD v3: 11-6614781-C-T
gnomAD v4: 11-6614781-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6614781C>T , CM000673.2:g.6614781C>T GRCh38
NC_000011.9:g.6636012C>T , CM000673.1:g.6636012C>T GRCh37
NC_000011.8:g.6592588C>T NCBI36
NG_008653.1:g.9681G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000682424.1:c.1437+85G>A ENSP00000507321.1:n.1437+85G>A
ENST00000299427.12:c.1551+85G>A MANE Select ENSP00000299427.6:n.1551+85G>A
ENST00000524611.2:n.496G>A
ENST00000524924.2:n.671+85G>A
ENST00000533371.6:c.822+85G>A ENSP00000437066.1:n.822+85G>A
ENST00000642892.1:c.822+85G>A ENSP00000494165.1:n.822+85G>A
ENST00000643342.1:c.624+85G>A
ENST00000643439.1:c.*1291+85G>A ENSP00000495849.1:n.*1291+85G>A
ENST00000643479.1:n.1737+85G>A
ENST00000643516.1:c.1060+85G>A
ENST00000644218.1:c.1362+85G>A ENSP00000493574.1:n.1362+85G>A
ENST00000644683.1:c.*1004+85G>A ENSP00000494085.1:n.*1004+85G>A
ENST00000644810.1:c.1272+85G>A ENSP00000495895.1:n.1272+85G>A
ENST00000644831.1:n.1727+85G>A
ENST00000644933.1:c.*417+85G>A ENSP00000496133.1:n.*417+85G>A
ENST00000645285.1:c.*417+85G>A ENSP00000495058.1:n.*417+85G>A
ENST00000645331.1:n.2756+85G>A
ENST00000645620.1:c.822+85G>A ENSP00000493657.1:n.822+85G>A
ENST00000646691.1:n.1438+85G>A
ENST00000646777.1:n.1884+85G>A
ENST00000647016.1:n.2031+85G>A
ENST00000647152.1:c.822+85G>A ENSP00000495893.1:n.822+85G>A
ENST00000647209.1:c.*1420+85G>A ENSP00000495558.1:n.*1420+85G>A
ENST00000647346.1:n.2571+85G>A
ENST00000299427.10:c.1551+85G>A ENSP00000299427.6:n.1551+85G>A
ENST00000524611.1:n.429+85G>A
ENST00000533371.5:c.822+85G>A ENSP00000437066.1:n.822+85G>A
ENST00000611494.4:c.1551+85G>A ENSP00000484546.1:n.1551+85G>A
NM_000391.3:c.1551+85G>A NP_000382.3:n.1551+85G>A
NM_000391.4:c.1551+85G>A MANE Select NP_000382.3:n.1551+85G>A