Canonical Allele Identifier: CA379475580
Gene: TPP1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6617111T>A , CM000673.2:g.6617111T>A GRCh38
NC_000011.9:g.6638342T>A , CM000673.1:g.6638342T>A GRCh37
NC_000011.8:g.6594918T>A NCBI36
NG_008653.1:g.7351A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000682424.1:c.437A>T ENSP00000507321.1:p.Gln146Leu
ENST00000299427.12:c.551A>T MANE Select ENSP00000299427.6:p.Gln184Leu
ENST00000428886.7:n.786A>T
ENST00000436873.7:c.312+190A>T
ENST00000524788.2:n.1710A>T
ENST00000524903.2:n.1826A>T
ENST00000528807.2:n.207A>T
ENST00000530040.2:n.479+248A>T
ENST00000533371.6:c.-179A>T ENSP00000437066.1:n.-179A>T
ENST00000534644.6:n.499A>T
ENST00000642892.1:c.-179A>T ENSP00000494165.1:n.-179A>T
ENST00000643439.1:c.*291A>T ENSP00000495849.1:n.*291A>T
ENST00000643479.1:n.580A>T
ENST00000643516.1:c.395+190A>T
ENST00000644151.1:n.1990A>T
ENST00000644218.1:c.551A>T ENSP00000493574.1:p.Gln184Leu
ENST00000644683.1:c.*4A>T ENSP00000494085.1:n.*4A>T
ENST00000644810.1:c.272A>T ENSP00000495895.1:p.Gln91Leu
ENST00000644831.1:n.727A>T
ENST00000644933.1:c.-179A>T ENSP00000496133.1:n.-179A>T
ENST00000645020.1:n.1726A>T
ENST00000645285.1:c.-179A>T ENSP00000495058.1:n.-179A>T
ENST00000645331.1:n.917A>T
ENST00000645620.1:c.-179A>T ENSP00000493657.1:n.-179A>T
ENST00000646777.1:n.727A>T
ENST00000647016.1:n.1031A>T
ENST00000647152.1:c.-179A>T ENSP00000495893.1:n.-179A>T
ENST00000647209.1:c.*420A>T ENSP00000495558.1:n.*420A>T
ENST00000647346.1:n.1571A>T
ENST00000299427.10:c.551A>T ENSP00000299427.6:p.Gln184Leu
ENST00000428886.6:n.720A>T
ENST00000436873.6:c.450+248A>T ENSP00000398136.2:n.450+248A>T
ENST00000524788.1:n.251A>T
ENST00000528571.5:c.*291A>T ENSP00000434647.1:n.*291A>T
ENST00000528807.1:n.101A>T
ENST00000533371.5:c.-179A>T ENSP00000437066.1:n.-179A>T
ENST00000534644.5:n.536A>T
ENST00000611494.4:c.551A>T ENSP00000484546.1:p.Gln184Leu
NM_000391.3:c.551A>T NP_000382.3:p.Gln184Leu
NM_000391.4:c.551A>T MANE Select NP_000382.3:p.Gln184Leu