Canonical Allele Identifier: CA379475445
Gene: TPP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1351593
ClinVar RCV Id: RCV002044843
dbSNP Id: rs2134594975

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6617042T>G , CM000673.2:g.6617042T>G GRCh38
NC_000011.9:g.6638273T>G , CM000673.1:g.6638273T>G GRCh37
NC_000011.8:g.6594849T>G NCBI36
NG_008653.1:g.7420A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000682424.1:c.506A>C ENSP00000507321.1:p.Lys169Thr
ENST00000299427.12:c.620A>C MANE Select ENSP00000299427.6:p.Lys207Thr
ENST00000436873.7:c.312+259A>C
ENST00000524788.2:n.1779A>C
ENST00000524903.2:n.1895A>C
ENST00000528807.2:n.276A>C
ENST00000530040.2:n.479+317A>C
ENST00000533371.6:c.-110A>C ENSP00000437066.1:n.-110A>C
ENST00000534644.6:n.568A>C
ENST00000642892.1:c.-110A>C ENSP00000494165.1:n.-110A>C
ENST00000643439.1:c.*360A>C ENSP00000495849.1:n.*360A>C
ENST00000643479.1:n.649A>C
ENST00000643516.1:c.395+259A>C
ENST00000644151.1:n.2059A>C
ENST00000644218.1:c.620A>C ENSP00000493574.1:p.Lys207Thr
ENST00000644683.1:c.*73A>C ENSP00000494085.1:n.*73A>C
ENST00000644810.1:c.341A>C ENSP00000495895.1:p.Lys114Thr
ENST00000644831.1:n.796A>C
ENST00000644933.1:c.-110A>C ENSP00000496133.1:n.-110A>C
ENST00000645020.1:n.1795A>C
ENST00000645285.1:c.-110A>C ENSP00000495058.1:n.-110A>C
ENST00000645331.1:n.986A>C
ENST00000645620.1:c.-110A>C ENSP00000493657.1:n.-110A>C
ENST00000646777.1:n.796A>C
ENST00000647016.1:n.1100A>C
ENST00000647152.1:c.-110A>C ENSP00000495893.1:n.-110A>C
ENST00000647209.1:c.*489A>C ENSP00000495558.1:n.*489A>C
ENST00000647346.1:n.1640A>C
ENST00000299427.10:c.620A>C ENSP00000299427.6:p.Lys207Thr
ENST00000428886.6:n.789A>C
ENST00000436873.6:c.450+317A>C ENSP00000398136.2:n.450+317A>C
ENST00000524788.1:n.320A>C
ENST00000528571.5:c.*360A>C ENSP00000434647.1:n.*360A>C
ENST00000528807.1:n.170A>C
ENST00000533371.5:c.-110A>C ENSP00000437066.1:n.-110A>C
ENST00000534644.5:n.605A>C
ENST00000611494.4:c.620A>C ENSP00000484546.1:p.Lys207Thr
NM_000391.3:c.620A>C NP_000382.3:p.Lys207Thr
NM_000391.4:c.620A>C MANE Select NP_000382.3:p.Lys207Thr