Canonical Allele Identifier: CA2612256393
Gene: TPP1 HGNC NCBI

Linked Data

gnomAD v4: 11-6614729-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6614729G>T , CM000673.2:g.6614729G>T GRCh38
NC_000011.9:g.6635960G>T , CM000673.1:g.6635960G>T GRCh37
NC_000011.8:g.6592536G>T NCBI36
NG_008653.1:g.9733C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000682424.1:c.1438-43C>A ENSP00000507321.1:n.1438-43C>A
ENST00000299427.12:c.1552-43C>A MANE Select ENSP00000299427.6:n.1552-43C>A
ENST00000524611.2:n.548C>A
ENST00000524924.2:n.672-43C>A
ENST00000533371.6:c.823-43C>A ENSP00000437066.1:n.823-43C>A
ENST00000642892.1:c.823-43C>A ENSP00000494165.1:n.823-43C>A
ENST00000643342.1:c.625-43C>A
ENST00000643439.1:c.*1292-43C>A ENSP00000495849.1:n.*1292-43C>A
ENST00000643479.1:n.1738-43C>A
ENST00000643516.1:c.1061-43C>A
ENST00000644218.1:c.1363-43C>A ENSP00000493574.1:n.1363-43C>A
ENST00000644683.1:c.*1005-43C>A ENSP00000494085.1:n.*1005-43C>A
ENST00000644810.1:c.1273-43C>A ENSP00000495895.1:n.1273-43C>A
ENST00000644831.1:n.1728-43C>A
ENST00000644933.1:c.*418-43C>A ENSP00000496133.1:n.*418-43C>A
ENST00000645285.1:c.*418-43C>A ENSP00000495058.1:n.*418-43C>A
ENST00000645331.1:n.2757-43C>A
ENST00000645620.1:c.823-43C>A ENSP00000493657.1:n.823-43C>A
ENST00000646691.1:n.1439-43C>A
ENST00000646777.1:n.1885-43C>A
ENST00000647016.1:n.2032-43C>A
ENST00000647152.1:c.823-43C>A ENSP00000495893.1:n.823-43C>A
ENST00000647209.1:c.*1421-43C>A ENSP00000495558.1:n.*1421-43C>A
ENST00000647346.1:n.2572-43C>A
ENST00000299427.10:c.1552-43C>A ENSP00000299427.6:n.1552-43C>A
ENST00000524611.1:n.430-43C>A
ENST00000533371.5:c.823-43C>A ENSP00000437066.1:n.823-43C>A
ENST00000611494.4:c.1552-43C>A ENSP00000484546.1:n.1552-43C>A
NM_000391.3:c.1552-43C>A NP_000382.3:n.1552-43C>A
NM_000391.4:c.1552-43C>A MANE Select NP_000382.3:n.1552-43C>A