Canonical Allele Identifier: CA2612256386
Gene: TPP1 HGNC NCBI

Linked Data

gnomAD v4: 11-6614704-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6614704A>G , CM000673.2:g.6614704A>G GRCh38
NC_000011.9:g.6635935A>G , CM000673.1:g.6635935A>G GRCh37
NC_000011.8:g.6592511A>G NCBI36
NG_008653.1:g.9758T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000682424.1:c.1438-18T>C ENSP00000507321.1:n.1438-18T>C
ENST00000299427.12:c.1552-18T>C MANE Select ENSP00000299427.6:n.1552-18T>C
ENST00000524611.2:n.573T>C
ENST00000524924.2:n.672-18T>C
ENST00000533371.6:c.823-18T>C ENSP00000437066.1:n.823-18T>C
ENST00000642892.1:c.823-18T>C ENSP00000494165.1:n.823-18T>C
ENST00000643342.1:c.625-18T>C
ENST00000643439.1:c.*1292-18T>C ENSP00000495849.1:n.*1292-18T>C
ENST00000643479.1:n.1738-18T>C
ENST00000643516.1:c.1061-18T>C
ENST00000644218.1:c.1363-18T>C ENSP00000493574.1:n.1363-18T>C
ENST00000644683.1:c.*1005-18T>C ENSP00000494085.1:n.*1005-18T>C
ENST00000644810.1:c.1273-18T>C ENSP00000495895.1:n.1273-18T>C
ENST00000644831.1:n.1728-18T>C
ENST00000644933.1:c.*418-18T>C ENSP00000496133.1:n.*418-18T>C
ENST00000645285.1:c.*418-18T>C ENSP00000495058.1:n.*418-18T>C
ENST00000645331.1:n.2757-18T>C
ENST00000645620.1:c.823-18T>C ENSP00000493657.1:n.823-18T>C
ENST00000646691.1:n.1439-18T>C
ENST00000646777.1:n.1885-18T>C
ENST00000647016.1:n.2032-18T>C
ENST00000647152.1:c.823-18T>C ENSP00000495893.1:n.823-18T>C
ENST00000647209.1:c.*1421-18T>C ENSP00000495558.1:n.*1421-18T>C
ENST00000647346.1:n.2572-18T>C
ENST00000299427.10:c.1552-18T>C ENSP00000299427.6:n.1552-18T>C
ENST00000524611.1:n.430-18T>C
ENST00000533371.5:c.823-18T>C ENSP00000437066.1:n.823-18T>C
ENST00000611494.4:c.1552-18T>C ENSP00000484546.1:n.1552-18T>C
NM_000391.3:c.1552-18T>C NP_000382.3:n.1552-18T>C
NM_000391.4:c.1552-18T>C MANE Select NP_000382.3:n.1552-18T>C