Canonical Allele Identifier: CA217321254
Gene: TPP1 HGNC NCBI

Linked Data

dbSNP Id: rs192681652
gnomAD v3: 11-6615077-C-G
gnomAD v4: 11-6615077-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6615077C>G , CM000673.2:g.6615077C>G GRCh38
NC_000011.9:g.6636308C>G , CM000673.1:g.6636308C>G GRCh37
NC_000011.8:g.6592884C>G NCBI36
NG_008653.1:g.9385G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000682424.1:c.1312-86G>C ENSP00000507321.1:n.1312-86G>C
ENST00000299427.12:c.1426-86G>C MANE Select ENSP00000299427.6:n.1426-86G>C
ENST00000524611.2:n.286-86G>C
ENST00000524924.2:n.546-86G>C
ENST00000533371.6:c.697-86G>C ENSP00000437066.1:n.697-86G>C
ENST00000642892.1:c.697-86G>C ENSP00000494165.1:n.697-86G>C
ENST00000643342.1:c.499-86G>C
ENST00000643439.1:c.*1166-86G>C ENSP00000495849.1:n.*1166-86G>C
ENST00000643479.1:n.1612-86G>C
ENST00000643516.1:c.935-86G>C
ENST00000644218.1:c.1237-86G>C ENSP00000493574.1:n.1237-86G>C
ENST00000644683.1:c.*879-86G>C ENSP00000494085.1:n.*879-86G>C
ENST00000644810.1:c.1147-86G>C ENSP00000495895.1:n.1147-86G>C
ENST00000644831.1:n.1602-86G>C
ENST00000644933.1:c.*292-86G>C ENSP00000496133.1:n.*292-86G>C
ENST00000645285.1:c.*292-86G>C ENSP00000495058.1:n.*292-86G>C
ENST00000645331.1:n.2631-86G>C
ENST00000645620.1:c.697-86G>C ENSP00000493657.1:n.697-86G>C
ENST00000646691.1:n.1313-86G>C
ENST00000646777.1:n.1759-86G>C
ENST00000647016.1:n.1906-86G>C
ENST00000647152.1:c.697-86G>C ENSP00000495893.1:n.697-86G>C
ENST00000647209.1:c.*1295-86G>C ENSP00000495558.1:n.*1295-86G>C
ENST00000647346.1:n.2446-86G>C
ENST00000299427.10:c.1426-86G>C ENSP00000299427.6:n.1426-86G>C
ENST00000524611.1:n.304-86G>C
ENST00000533371.5:c.697-86G>C ENSP00000437066.1:n.697-86G>C
ENST00000611494.4:c.1426-86G>C ENSP00000484546.1:n.1426-86G>C
NM_000391.3:c.1426-86G>C NP_000382.3:n.1426-86G>C
NM_000391.4:c.1426-86G>C MANE Select NP_000382.3:n.1426-86G>C