Canonical Allele Identifier: CA472922283
Gene: TPP1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.6636474A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6615243A>G , CM000673.2:g.6615243A>G GRCh38
NC_000011.9:g.6636474A>G , CM000673.1:g.6636474A>G GRCh37
NC_000011.8:g.6593050A>G NCBI36
NG_008653.1:g.9219T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000682424.1:c.1239T>C ENSP00000507321.1:p.Asp413=
ENST00000299427.12:c.1353T>C MANE Select ENSP00000299427.6:p.Asp451=
ENST00000524611.2:n.213T>C
ENST00000524924.2:n.473T>C
ENST00000533371.6:c.624T>C ENSP00000437066.1:p.Asp208=
ENST00000642892.1:c.624T>C ENSP00000494165.1:p.Asp208=
ENST00000643342.1:c.426T>C
ENST00000643439.1:c.*1093T>C ENSP00000495849.1:n.*1093T>C
ENST00000643479.1:n.1539T>C
ENST00000643516.1:c.862T>C
ENST00000644218.1:c.1164T>C ENSP00000493574.1:p.Asp388=
ENST00000644683.1:c.*806T>C ENSP00000494085.1:n.*806T>C
ENST00000644810.1:c.1074T>C ENSP00000495895.1:p.Asp358=
ENST00000644831.1:n.1529T>C
ENST00000644933.1:c.*219T>C ENSP00000496133.1:n.*219T>C
ENST00000645285.1:c.*219T>C ENSP00000495058.1:n.*219T>C
ENST00000645331.1:n.2558T>C
ENST00000645620.1:c.624T>C ENSP00000493657.1:p.Asp208=
ENST00000646691.1:n.1240T>C
ENST00000646777.1:n.1686T>C
ENST00000647016.1:n.1833T>C
ENST00000647152.1:c.624T>C ENSP00000495893.1:p.Asp208=
ENST00000647209.1:c.*1222T>C ENSP00000495558.1:n.*1222T>C
ENST00000647346.1:n.2373T>C
ENST00000299427.10:c.1353T>C ENSP00000299427.6:p.Asp451=
ENST00000524611.1:n.231T>C
ENST00000532191.1:n.406T>C
ENST00000533371.5:c.624T>C ENSP00000437066.1:p.Asp208=
ENST00000611494.4:c.1353T>C ENSP00000484546.1:p.Asp451=
NM_000391.3:c.1353T>C NP_000382.3:p.Asp451=
NM_000391.4:c.1353T>C MANE Select NP_000382.3:p.Asp451=