Canonical Allele Identifier: CA266181
Gene: TPP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 68738
dbSNP Id: rs121908200
gnomAD v2: 11-6636673-C-G
gnomAD v3: 11-6615442-C-G
gnomAD v4: 11-6615442-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6615442C>G , CM000673.2:g.6615442C>G GRCh38
NC_000011.9:g.6636673C>G , CM000673.1:g.6636673C>G GRCh37
NC_000011.8:g.6593249C>G NCBI36
NG_008653.1:g.9020G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000682424.1:c.1152G>C ENSP00000507321.1:p.Gln384His
ENST00000299427.12:c.1266G>C MANE Select ENSP00000299427.6:p.Gln422His
ENST00000436873.7:c.503G>C
ENST00000524611.2:n.14G>C
ENST00000524924.2:n.386G>C
ENST00000533371.6:c.537G>C ENSP00000437066.1:p.Gln179His
ENST00000642892.1:c.537G>C ENSP00000494165.1:p.Gln179His
ENST00000643342.1:c.339G>C
ENST00000643439.1:c.*1006G>C ENSP00000495849.1:n.*1006G>C
ENST00000643479.1:n.1452G>C
ENST00000643516.1:c.775G>C
ENST00000644218.1:c.1077G>C ENSP00000493574.1:p.Gln359His
ENST00000644683.1:c.*719G>C ENSP00000494085.1:n.*719G>C
ENST00000644810.1:c.987G>C ENSP00000495895.1:p.Gln329His
ENST00000644831.1:n.1442G>C
ENST00000644933.1:c.*132G>C ENSP00000496133.1:n.*132G>C
ENST00000645285.1:c.*132G>C ENSP00000495058.1:n.*132G>C
ENST00000645331.1:n.2471G>C
ENST00000645620.1:c.537G>C ENSP00000493657.1:p.Gln179His
ENST00000646691.1:n.1041G>C
ENST00000646777.1:n.1599G>C
ENST00000647016.1:n.1746G>C
ENST00000647152.1:c.537G>C ENSP00000495893.1:p.Gln179His
ENST00000647209.1:c.*1135G>C ENSP00000495558.1:n.*1135G>C
ENST00000647346.1:n.2286G>C
ENST00000299427.10:c.1266G>C ENSP00000299427.6:p.Gln422His
ENST00000524611.1:n.32G>C
ENST00000524924.1:n.221G>C
ENST00000532191.1:n.319G>C
ENST00000533371.5:c.537G>C ENSP00000437066.1:p.Gln179His
ENST00000611494.4:c.1266G>C ENSP00000484546.1:p.Gln422His
NM_000391.3:c.1266G>C NP_000382.3:p.Gln422His
NM_000391.4:c.1266G>C MANE Select NP_000382.3:p.Gln422His