Canonical Allele Identifier: CA934783318
Gene: TPP1 HGNC NCBI

Linked Data

dbSNP Id: rs1855563843
gnomAD v3: 11-6615374-C-T
gnomAD v4: 11-6615374-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6615374C>T , CM000673.2:g.6615374C>T GRCh38
NC_000011.9:g.6636605C>T , CM000673.1:g.6636605C>T GRCh37
NC_000011.8:g.6593181C>T NCBI36
NG_008653.1:g.9088G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000682424.1:c.1153-45G>A ENSP00000507321.1:n.1153-45G>A
ENST00000299427.12:c.1267-45G>A MANE Select ENSP00000299427.6:n.1267-45G>A
ENST00000436873.7:c.504-45G>A
ENST00000524611.2:n.82G>A
ENST00000524924.2:n.387-45G>A
ENST00000533371.6:c.538-45G>A ENSP00000437066.1:n.538-45G>A
ENST00000642892.1:c.538-45G>A ENSP00000494165.1:n.538-45G>A
ENST00000643342.1:c.340-45G>A
ENST00000643439.1:c.*1007-45G>A ENSP00000495849.1:n.*1007-45G>A
ENST00000643479.1:n.1453-45G>A
ENST00000643516.1:c.776-45G>A
ENST00000644218.1:c.1078-45G>A ENSP00000493574.1:n.1078-45G>A
ENST00000644683.1:c.*720-45G>A ENSP00000494085.1:n.*720-45G>A
ENST00000644810.1:c.988-45G>A ENSP00000495895.1:n.988-45G>A
ENST00000644831.1:n.1443-45G>A
ENST00000644933.1:c.*133-45G>A ENSP00000496133.1:n.*133-45G>A
ENST00000645285.1:c.*133-45G>A ENSP00000495058.1:n.*133-45G>A
ENST00000645331.1:n.2472-45G>A
ENST00000645620.1:c.538-45G>A ENSP00000493657.1:n.538-45G>A
ENST00000646691.1:n.1109G>A
ENST00000646777.1:n.1600-45G>A
ENST00000647016.1:n.1747-45G>A
ENST00000647152.1:c.538-45G>A ENSP00000495893.1:n.538-45G>A
ENST00000647209.1:c.*1136-45G>A ENSP00000495558.1:n.*1136-45G>A
ENST00000647346.1:n.2287-45G>A
ENST00000299427.10:c.1267-45G>A ENSP00000299427.6:n.1267-45G>A
ENST00000524611.1:n.100G>A
ENST00000524924.1:n.222-45G>A
ENST00000532191.1:n.320-45G>A
ENST00000533371.5:c.538-45G>A ENSP00000437066.1:n.538-45G>A
ENST00000611494.4:c.1267-45G>A ENSP00000484546.1:n.1267-45G>A
NM_000391.3:c.1267-45G>A NP_000382.3:n.1267-45G>A
NM_000391.4:c.1267-45G>A MANE Select NP_000382.3:n.1267-45G>A