Canonical Allele Identifier: CA934783766
Gene: TPP1 HGNC NCBI

Linked Data

gnomAD v3: 11-6616535-T-G
gnomAD v4: 11-6616535-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6616535T>G , CM000673.2:g.6616535T>G GRCh38
NC_000011.9:g.6637766T>G , CM000673.1:g.6637766T>G GRCh37
NC_000011.8:g.6594342T>G NCBI36
NG_008653.1:g.7927A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000682424.1:c.773-32A>C ENSP00000507321.1:n.773-32A>C
ENST00000299427.12:c.887-32A>C MANE Select ENSP00000299427.6:n.887-32A>C
ENST00000436873.7:c.313-461A>C
ENST00000524903.2:n.2287A>C
ENST00000530040.2:n.480-32A>C
ENST00000533371.6:c.158-32A>C ENSP00000437066.1:n.158-32A>C
ENST00000642892.1:c.158-32A>C ENSP00000494165.1:n.158-32A>C
ENST00000643439.1:c.*627-32A>C ENSP00000495849.1:n.*627-32A>C
ENST00000643479.1:n.1041A>C
ENST00000643516.1:c.396-32A>C
ENST00000644218.1:c.886+126A>C ENSP00000493574.1:n.886+126A>C
ENST00000644683.1:c.*340-32A>C ENSP00000494085.1:n.*340-32A>C
ENST00000644810.1:c.608-32A>C ENSP00000495895.1:n.608-32A>C
ENST00000644831.1:n.1063-32A>C
ENST00000644933.1:c.158-32A>C ENSP00000496133.1:n.158-32A>C
ENST00000645285.1:c.157+126A>C ENSP00000495058.1:n.157+126A>C
ENST00000645331.1:n.1378A>C
ENST00000645620.1:c.158-32A>C ENSP00000493657.1:n.158-32A>C
ENST00000646777.1:n.1188A>C
ENST00000647016.1:n.1367-32A>C
ENST00000647152.1:c.158-32A>C ENSP00000495893.1:n.158-32A>C
ENST00000647209.1:c.*756-32A>C ENSP00000495558.1:n.*756-32A>C
ENST00000647346.1:n.1907-32A>C
ENST00000299427.10:c.887-32A>C ENSP00000299427.6:n.887-32A>C
ENST00000436873.6:c.451-32A>C ENSP00000398136.2:n.451-32A>C
ENST00000528807.1:n.562A>C
ENST00000533371.5:c.158-32A>C ENSP00000437066.1:n.158-32A>C
ENST00000611494.4:c.887-32A>C ENSP00000484546.1:n.887-32A>C
NM_000391.3:c.887-32A>C NP_000382.3:n.887-32A>C
NM_000391.4:c.887-32A>C MANE Select NP_000382.3:n.887-32A>C