Canonical Allele Identifier: CA379476285
Gene: TPP1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6617672G>T , CM000673.2:g.6617672G>T GRCh38
NC_000011.9:g.6638903G>T , CM000673.1:g.6638903G>T GRCh37
NC_000011.8:g.6595479G>T NCBI36
NG_008653.1:g.6790C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000682424.1:c.220C>A ENSP00000507321.1:p.His74Asn
ENST00000299427.12:c.334C>A MANE Select ENSP00000299427.6:p.His112Asn
ENST00000428886.7:n.422C>A
ENST00000436873.7:c.138C>A
ENST00000524788.2:n.1346C>A
ENST00000524903.2:n.1462C>A
ENST00000528571.6:c.*74C>A ENSP00000434647.1:n.*74C>A
ENST00000530040.2:n.363C>A
ENST00000533371.6:c.-396C>A ENSP00000437066.1:n.-396C>A
ENST00000534644.6:n.335C>A
ENST00000642892.1:c.-343C>A ENSP00000494165.1:n.-343C>A
ENST00000643439.1:c.*74C>A ENSP00000495849.1:n.*74C>A
ENST00000643479.1:n.363C>A
ENST00000643516.1:c.221C>A
ENST00000644151.1:n.1626C>A
ENST00000644218.1:c.334C>A ENSP00000493574.1:p.His112Asn
ENST00000644683.1:c.334C>A ENSP00000494085.1:p.His112Asn
ENST00000644810.1:c.230-519C>A ENSP00000495895.1:n.230-519C>A
ENST00000644831.1:n.363C>A
ENST00000644933.1:c.-396C>A ENSP00000496133.1:n.-396C>A
ENST00000645020.1:n.1362C>A
ENST00000645285.1:c.-396C>A ENSP00000495058.1:n.-396C>A
ENST00000645331.1:n.356C>A
ENST00000645620.1:c.-338C>A ENSP00000493657.1:n.-338C>A
ENST00000646777.1:n.363C>A
ENST00000647016.1:n.667C>A
ENST00000647152.1:c.-396C>A ENSP00000495893.1:n.-396C>A
ENST00000647209.1:c.*203C>A ENSP00000495558.1:n.*203C>A
ENST00000647346.1:n.1354C>A
ENST00000299427.10:c.334C>A ENSP00000299427.6:p.His112Asn
ENST00000428886.6:n.356C>A
ENST00000436873.6:c.334C>A ENSP00000398136.2:p.His112Asn
ENST00000528571.5:c.*74C>A ENSP00000434647.1:n.*74C>A
ENST00000530040.1:n.446C>A
ENST00000533371.5:c.-396C>A ENSP00000437066.1:n.-396C>A
ENST00000534644.5:n.319C>A
ENST00000611494.4:c.334C>A ENSP00000484546.1:p.His112Asn
NM_000391.3:c.334C>A NP_000382.3:p.His112Asn
NM_000391.4:c.334C>A MANE Select NP_000382.3:p.His112Asn