Canonical Allele Identifier: CA217321206
Gene: TPP1 HGNC NCBI

Linked Data

dbSNP Id: rs568525810
gnomAD v3: 11-6615057-C-T
gnomAD v4: 11-6615057-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6615057C>T , CM000673.2:g.6615057C>T GRCh38
NC_000011.9:g.6636288C>T , CM000673.1:g.6636288C>T GRCh37
NC_000011.8:g.6592864C>T NCBI36
NG_008653.1:g.9405G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000682424.1:c.1312-66G>A ENSP00000507321.1:n.1312-66G>A
ENST00000299427.12:c.1426-66G>A MANE Select ENSP00000299427.6:n.1426-66G>A
ENST00000524611.2:n.286-66G>A
ENST00000524924.2:n.546-66G>A
ENST00000533371.6:c.697-66G>A ENSP00000437066.1:n.697-66G>A
ENST00000642892.1:c.697-66G>A ENSP00000494165.1:n.697-66G>A
ENST00000643342.1:c.499-66G>A
ENST00000643439.1:c.*1166-66G>A ENSP00000495849.1:n.*1166-66G>A
ENST00000643479.1:n.1612-66G>A
ENST00000643516.1:c.935-66G>A
ENST00000644218.1:c.1237-66G>A ENSP00000493574.1:n.1237-66G>A
ENST00000644683.1:c.*879-66G>A ENSP00000494085.1:n.*879-66G>A
ENST00000644810.1:c.1147-66G>A ENSP00000495895.1:n.1147-66G>A
ENST00000644831.1:n.1602-66G>A
ENST00000644933.1:c.*292-66G>A ENSP00000496133.1:n.*292-66G>A
ENST00000645285.1:c.*292-66G>A ENSP00000495058.1:n.*292-66G>A
ENST00000645331.1:n.2631-66G>A
ENST00000645620.1:c.697-66G>A ENSP00000493657.1:n.697-66G>A
ENST00000646691.1:n.1313-66G>A
ENST00000646777.1:n.1759-66G>A
ENST00000647016.1:n.1906-66G>A
ENST00000647152.1:c.697-66G>A ENSP00000495893.1:n.697-66G>A
ENST00000647209.1:c.*1295-66G>A ENSP00000495558.1:n.*1295-66G>A
ENST00000647346.1:n.2446-66G>A
ENST00000299427.10:c.1426-66G>A ENSP00000299427.6:n.1426-66G>A
ENST00000524611.1:n.304-66G>A
ENST00000533371.5:c.697-66G>A ENSP00000437066.1:n.697-66G>A
ENST00000611494.4:c.1426-66G>A ENSP00000484546.1:n.1426-66G>A
NM_000391.3:c.1426-66G>A NP_000382.3:n.1426-66G>A
NM_000391.4:c.1426-66G>A MANE Select NP_000382.3:n.1426-66G>A