Canonical Allele Identifier: CA472771481
Gene: TPP1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.6636685C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6615454C>A , CM000673.2:g.6615454C>A GRCh38
NC_000011.9:g.6636685C>A , CM000673.1:g.6636685C>A GRCh37
NC_000011.8:g.6593261C>A NCBI36
NG_008653.1:g.9008G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000682424.1:c.1140G>T ENSP00000507321.1:p.Arg380=
ENST00000299427.12:c.1254G>T MANE Select ENSP00000299427.6:p.Arg418=
ENST00000436873.7:c.491G>T
ENST00000524611.2:n.2G>T
ENST00000524924.2:n.374G>T
ENST00000533371.6:c.525G>T ENSP00000437066.1:p.Arg175=
ENST00000642892.1:c.525G>T ENSP00000494165.1:p.Arg175=
ENST00000643342.1:c.327G>T
ENST00000643439.1:c.*994G>T ENSP00000495849.1:n.*994G>T
ENST00000643479.1:n.1440G>T
ENST00000643516.1:c.763G>T
ENST00000644218.1:c.1065G>T ENSP00000493574.1:p.Arg355=
ENST00000644683.1:c.*707G>T ENSP00000494085.1:n.*707G>T
ENST00000644810.1:c.975G>T ENSP00000495895.1:p.Arg325=
ENST00000644831.1:n.1430G>T
ENST00000644933.1:c.*120G>T ENSP00000496133.1:n.*120G>T
ENST00000645285.1:c.*120G>T ENSP00000495058.1:n.*120G>T
ENST00000645331.1:n.2459G>T
ENST00000645620.1:c.525G>T ENSP00000493657.1:p.Arg175=
ENST00000646691.1:n.1029G>T
ENST00000646777.1:n.1587G>T
ENST00000647016.1:n.1734G>T
ENST00000647152.1:c.525G>T ENSP00000495893.1:p.Arg175=
ENST00000647209.1:c.*1123G>T ENSP00000495558.1:n.*1123G>T
ENST00000647346.1:n.2274G>T
ENST00000299427.10:c.1254G>T ENSP00000299427.6:p.Arg418=
ENST00000524611.1:n.20G>T
ENST00000524924.1:n.209G>T
ENST00000532191.1:n.307G>T
ENST00000533371.5:c.525G>T ENSP00000437066.1:p.Arg175=
ENST00000611494.4:c.1254G>T ENSP00000484546.1:p.Arg418=
NM_000391.3:c.1254G>T NP_000382.3:p.Arg418=
NM_000391.4:c.1254G>T MANE Select NP_000382.3:p.Arg418=