Canonical Allele Identifier: CA472922900
Gene: TPP1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.6638560T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6617329T>G , CM000673.2:g.6617329T>G GRCh38
NC_000011.9:g.6638560T>G , CM000673.1:g.6638560T>G GRCh37
NC_000011.8:g.6595136T>G NCBI36
NG_008653.1:g.7133A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000682424.1:c.366A>C ENSP00000507321.1:p.Pro122=
ENST00000299427.12:c.480A>C MANE Select ENSP00000299427.6:p.Pro160=
ENST00000428886.7:n.568A>C
ENST00000436873.7:c.284A>C
ENST00000524788.2:n.1492A>C
ENST00000524903.2:n.1608A>C
ENST00000528571.6:c.*220A>C ENSP00000434647.1:n.*220A>C
ENST00000528807.2:n.136A>C
ENST00000530040.2:n.479+30A>C
ENST00000533371.6:c.-250A>C ENSP00000437066.1:n.-250A>C
ENST00000534644.6:n.456+25A>C
ENST00000642892.1:c.-222+25A>C ENSP00000494165.1:n.-222+25A>C
ENST00000643439.1:c.*220A>C ENSP00000495849.1:n.*220A>C
ENST00000643479.1:n.509A>C
ENST00000643516.1:c.367A>C
ENST00000644151.1:n.1772A>C
ENST00000644218.1:c.480A>C ENSP00000493574.1:p.Pro160=
ENST00000644683.1:c.450+30A>C ENSP00000494085.1:n.450+30A>C
ENST00000644810.1:c.230-176A>C ENSP00000495895.1:n.230-176A>C
ENST00000644831.1:n.509A>C
ENST00000644933.1:c.-250A>C ENSP00000496133.1:n.-250A>C
ENST00000645020.1:n.1508A>C
ENST00000645285.1:c.-250A>C ENSP00000495058.1:n.-250A>C
ENST00000645331.1:n.699A>C
ENST00000645620.1:c.-222+30A>C ENSP00000493657.1:n.-222+30A>C
ENST00000646777.1:n.509A>C
ENST00000647016.1:n.813A>C
ENST00000647152.1:c.-250A>C ENSP00000495893.1:n.-250A>C
ENST00000647209.1:c.*349A>C ENSP00000495558.1:n.*349A>C
ENST00000647346.1:n.1500A>C
ENST00000299427.10:c.480A>C ENSP00000299427.6:p.Pro160=
ENST00000428886.6:n.502A>C
ENST00000436873.6:c.450+30A>C ENSP00000398136.2:n.450+30A>C
ENST00000524788.1:n.33A>C
ENST00000528571.5:c.*220A>C ENSP00000434647.1:n.*220A>C
ENST00000533371.5:c.-250A>C ENSP00000437066.1:n.-250A>C
ENST00000534644.5:n.465A>C
ENST00000611494.4:c.480A>C ENSP00000484546.1:p.Pro160=
NM_000391.3:c.480A>C NP_000382.3:p.Pro160=
NM_000391.4:c.480A>C MANE Select NP_000382.3:p.Pro160=