Canonical Allele Identifier: CA597439659
Gene: TPP1 HGNC NCBI

Linked Data

dbSNP Id: rs1020990502
gnomAD v2: 11-6637769-G-A
gnomAD v3: 11-6616538-G-A
gnomAD v4: 11-6616538-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6616538G>A , CM000673.2:g.6616538G>A GRCh38
NC_000011.9:g.6637769G>A , CM000673.1:g.6637769G>A GRCh37
NC_000011.8:g.6594345G>A NCBI36
NG_008653.1:g.7924C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000682424.1:c.773-35C>T ENSP00000507321.1:n.773-35C>T
ENST00000299427.12:c.887-35C>T MANE Select ENSP00000299427.6:n.887-35C>T
ENST00000436873.7:c.313-464C>T
ENST00000524903.2:n.2284C>T
ENST00000530040.2:n.480-35C>T
ENST00000533371.6:c.158-35C>T ENSP00000437066.1:n.158-35C>T
ENST00000642892.1:c.158-35C>T ENSP00000494165.1:n.158-35C>T
ENST00000643439.1:c.*627-35C>T ENSP00000495849.1:n.*627-35C>T
ENST00000643479.1:n.1038C>T
ENST00000643516.1:c.396-35C>T
ENST00000644218.1:c.886+123C>T ENSP00000493574.1:n.886+123C>T
ENST00000644683.1:c.*340-35C>T ENSP00000494085.1:n.*340-35C>T
ENST00000644810.1:c.608-35C>T ENSP00000495895.1:n.608-35C>T
ENST00000644831.1:n.1063-35C>T
ENST00000644933.1:c.158-35C>T ENSP00000496133.1:n.158-35C>T
ENST00000645285.1:c.157+123C>T ENSP00000495058.1:n.157+123C>T
ENST00000645331.1:n.1375C>T
ENST00000645620.1:c.158-35C>T ENSP00000493657.1:n.158-35C>T
ENST00000646777.1:n.1185C>T
ENST00000647016.1:n.1367-35C>T
ENST00000647152.1:c.158-35C>T ENSP00000495893.1:n.158-35C>T
ENST00000647209.1:c.*756-35C>T ENSP00000495558.1:n.*756-35C>T
ENST00000647346.1:n.1907-35C>T
ENST00000299427.10:c.887-35C>T ENSP00000299427.6:n.887-35C>T
ENST00000436873.6:c.451-35C>T ENSP00000398136.2:n.451-35C>T
ENST00000528807.1:n.559C>T
ENST00000533371.5:c.158-35C>T ENSP00000437066.1:n.158-35C>T
ENST00000611494.4:c.887-35C>T ENSP00000484546.1:n.887-35C>T
NM_000391.3:c.887-35C>T NP_000382.3:n.887-35C>T
NM_000391.4:c.887-35C>T MANE Select NP_000382.3:n.887-35C>T