Canonical Allele Identifier: CA472922833
Gene: TPP1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.6638227A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6616996A>G , CM000673.2:g.6616996A>G GRCh38
NC_000011.9:g.6638227A>G , CM000673.1:g.6638227A>G GRCh37
NC_000011.8:g.6594803A>G NCBI36
NG_008653.1:g.7466T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000682424.1:c.552T>C ENSP00000507321.1:p.Asn184=
ENST00000299427.12:c.666T>C MANE Select ENSP00000299427.6:p.Asn222=
ENST00000436873.7:c.312+305T>C
ENST00000524788.2:n.1825T>C
ENST00000524903.2:n.1941T>C
ENST00000528807.2:n.322T>C
ENST00000530040.2:n.479+363T>C
ENST00000533371.6:c.-64T>C ENSP00000437066.1:n.-64T>C
ENST00000534644.6:n.614T>C
ENST00000642892.1:c.-64T>C ENSP00000494165.1:n.-64T>C
ENST00000643439.1:c.*406T>C ENSP00000495849.1:n.*406T>C
ENST00000643479.1:n.695T>C
ENST00000643516.1:c.395+305T>C
ENST00000644151.1:n.2105T>C
ENST00000644218.1:c.666T>C ENSP00000493574.1:p.Asn222=
ENST00000644683.1:c.*119T>C ENSP00000494085.1:n.*119T>C
ENST00000644810.1:c.387T>C ENSP00000495895.1:p.Asn129=
ENST00000644831.1:n.842T>C
ENST00000644933.1:c.-64T>C ENSP00000496133.1:n.-64T>C
ENST00000645020.1:n.1841T>C
ENST00000645285.1:c.-64T>C ENSP00000495058.1:n.-64T>C
ENST00000645331.1:n.1032T>C
ENST00000645620.1:c.-64T>C ENSP00000493657.1:n.-64T>C
ENST00000646777.1:n.842T>C
ENST00000647016.1:n.1146T>C
ENST00000647152.1:c.-64T>C ENSP00000495893.1:n.-64T>C
ENST00000647209.1:c.*535T>C ENSP00000495558.1:n.*535T>C
ENST00000647346.1:n.1686T>C
ENST00000299427.10:c.666T>C ENSP00000299427.6:p.Asn222=
ENST00000428886.6:n.835T>C
ENST00000436873.6:c.450+363T>C ENSP00000398136.2:n.450+363T>C
ENST00000524788.1:n.366T>C
ENST00000528571.5:c.*406T>C ENSP00000434647.1:n.*406T>C
ENST00000528807.1:n.216T>C
ENST00000533371.5:c.-64T>C ENSP00000437066.1:n.-64T>C
ENST00000611494.4:c.666T>C ENSP00000484546.1:p.Asn222=
NM_000391.3:c.666T>C NP_000382.3:p.Asn222=
NM_000391.4:c.666T>C MANE Select NP_000382.3:p.Asn222=