Canonical Allele Identifier: CA472923096
Gene: TPP1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.6638653T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6617422T>G , CM000673.2:g.6617422T>G GRCh38
NC_000011.9:g.6638653T>G , CM000673.1:g.6638653T>G GRCh37
NC_000011.8:g.6595229T>G NCBI36
NG_008653.1:g.7040A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000682424.1:c.273A>C ENSP00000507321.1:p.Ala91=
ENST00000299427.12:c.387A>C MANE Select ENSP00000299427.6:p.Ala129=
ENST00000428886.7:n.475A>C
ENST00000436873.7:c.191A>C
ENST00000524788.2:n.1399A>C
ENST00000524903.2:n.1515A>C
ENST00000528571.6:c.*127A>C ENSP00000434647.1:n.*127A>C
ENST00000528807.2:n.43A>C
ENST00000530040.2:n.416A>C
ENST00000533371.6:c.-343A>C ENSP00000437066.1:n.-343A>C
ENST00000534644.6:n.388A>C
ENST00000642892.1:c.-290A>C ENSP00000494165.1:n.-290A>C
ENST00000643439.1:c.*127A>C ENSP00000495849.1:n.*127A>C
ENST00000643479.1:n.416A>C
ENST00000643516.1:c.274A>C
ENST00000644151.1:n.1679A>C
ENST00000644218.1:c.387A>C ENSP00000493574.1:p.Ala129=
ENST00000644683.1:c.387A>C ENSP00000494085.1:p.Ala129=
ENST00000644810.1:c.230-269A>C ENSP00000495895.1:n.230-269A>C
ENST00000644831.1:n.416A>C
ENST00000644933.1:c.-343A>C ENSP00000496133.1:n.-343A>C
ENST00000645020.1:n.1415A>C
ENST00000645285.1:c.-343A>C ENSP00000495058.1:n.-343A>C
ENST00000645331.1:n.606A>C
ENST00000645620.1:c.-285A>C ENSP00000493657.1:n.-285A>C
ENST00000646777.1:n.416A>C
ENST00000647016.1:n.720A>C
ENST00000647152.1:c.-343A>C ENSP00000495893.1:n.-343A>C
ENST00000647209.1:c.*256A>C ENSP00000495558.1:n.*256A>C
ENST00000647346.1:n.1407A>C
ENST00000299427.10:c.387A>C ENSP00000299427.6:p.Ala129=
ENST00000428886.6:n.409A>C
ENST00000436873.6:c.387A>C ENSP00000398136.2:p.Ala129=
ENST00000528571.5:c.*127A>C ENSP00000434647.1:n.*127A>C
ENST00000530040.1:n.499A>C
ENST00000533371.5:c.-343A>C ENSP00000437066.1:n.-343A>C
ENST00000534644.5:n.372A>C
ENST00000611494.4:c.387A>C ENSP00000484546.1:p.Ala129=
NM_000391.3:c.387A>C NP_000382.3:p.Ala129=
NM_000391.4:c.387A>C MANE Select NP_000382.3:p.Ala129=