Canonical Allele Identifier: CA5858832
Gene: TPP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 990500
dbSNP Id: rs148222726
gnomAD v2: 11-6637971-G-A
gnomAD v3: 11-6616740-G-A
gnomAD v4: 11-6616740-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6616740G>A , CM000673.2:g.6616740G>A GRCh38
NC_000011.9:g.6637971G>A , CM000673.1:g.6637971G>A GRCh37
NC_000011.8:g.6594547G>A NCBI36
NG_008653.1:g.7722C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000682424.1:c.693C>T ENSP00000507321.1:p.Ala231=
ENST00000299427.12:c.807C>T MANE Select ENSP00000299427.6:p.Ala269=
ENST00000436873.7:c.312+561C>T
ENST00000524788.2:n.1966C>T
ENST00000524903.2:n.2082C>T
ENST00000528807.2:n.463C>T
ENST00000530040.2:n.480-237C>T
ENST00000533371.6:c.78C>T ENSP00000437066.1:p.Ala26=
ENST00000642892.1:c.78C>T ENSP00000494165.1:p.Ala26=
ENST00000643439.1:c.*547C>T ENSP00000495849.1:n.*547C>T
ENST00000643479.1:n.836C>T
ENST00000643516.1:c.396-237C>T
ENST00000644151.1:n.2246C>T
ENST00000644218.1:c.807C>T ENSP00000493574.1:p.Ala269=
ENST00000644683.1:c.*260C>T ENSP00000494085.1:n.*260C>T
ENST00000644810.1:c.528C>T ENSP00000495895.1:p.Ala176=
ENST00000644831.1:n.983C>T
ENST00000644933.1:c.78C>T ENSP00000496133.1:p.Ala26=
ENST00000645020.1:n.2097C>T
ENST00000645285.1:c.78C>T ENSP00000495058.1:p.Ala26=
ENST00000645331.1:n.1173C>T
ENST00000645620.1:c.78C>T ENSP00000493657.1:p.Ala26=
ENST00000646777.1:n.983C>T
ENST00000647016.1:n.1287C>T
ENST00000647152.1:c.78C>T ENSP00000495893.1:p.Ala26=
ENST00000647209.1:c.*676C>T ENSP00000495558.1:n.*676C>T
ENST00000647346.1:n.1827C>T
ENST00000299427.10:c.807C>T ENSP00000299427.6:p.Ala269=
ENST00000436873.6:c.451-237C>T ENSP00000398136.2:n.451-237C>T
ENST00000524788.1:n.507C>T
ENST00000528807.1:n.357C>T
ENST00000533371.5:c.78C>T ENSP00000437066.1:p.Ala26=
ENST00000611494.4:c.807C>T ENSP00000484546.1:p.Ala269=
NM_000391.3:c.807C>T NP_000382.3:p.Ala269=
NM_000391.4:c.807C>T MANE Select NP_000382.3:p.Ala269=