Canonical Allele Identifier: CA472922838
Gene: TPP1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.6638356T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6617125T>C , CM000673.2:g.6617125T>C GRCh38
NC_000011.9:g.6638356T>C , CM000673.1:g.6638356T>C GRCh37
NC_000011.8:g.6594932T>C NCBI36
NG_008653.1:g.7337A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000682424.1:c.423A>G ENSP00000507321.1:p.Thr141=
ENST00000299427.12:c.537A>G MANE Select ENSP00000299427.6:p.Thr179=
ENST00000428886.7:n.772A>G
ENST00000436873.7:c.312+176A>G
ENST00000524788.2:n.1696A>G
ENST00000524903.2:n.1812A>G
ENST00000528807.2:n.193A>G
ENST00000530040.2:n.479+234A>G
ENST00000533371.6:c.-193A>G ENSP00000437066.1:n.-193A>G
ENST00000534644.6:n.485A>G
ENST00000642892.1:c.-193A>G ENSP00000494165.1:n.-193A>G
ENST00000643439.1:c.*277A>G ENSP00000495849.1:n.*277A>G
ENST00000643479.1:n.566A>G
ENST00000643516.1:c.395+176A>G
ENST00000644151.1:n.1976A>G
ENST00000644218.1:c.537A>G ENSP00000493574.1:p.Thr179=
ENST00000644683.1:c.479A>G ENSP00000494085.1:p.His160Arg
ENST00000644810.1:c.258A>G ENSP00000495895.1:p.Thr86=
ENST00000644831.1:n.713A>G
ENST00000644933.1:c.-193A>G ENSP00000496133.1:n.-193A>G
ENST00000645020.1:n.1712A>G
ENST00000645285.1:c.-193A>G ENSP00000495058.1:n.-193A>G
ENST00000645331.1:n.903A>G
ENST00000645620.1:c.-193A>G ENSP00000493657.1:n.-193A>G
ENST00000646777.1:n.713A>G
ENST00000647016.1:n.1017A>G
ENST00000647152.1:c.-193A>G ENSP00000495893.1:n.-193A>G
ENST00000647209.1:c.*406A>G ENSP00000495558.1:n.*406A>G
ENST00000647346.1:n.1557A>G
ENST00000299427.10:c.537A>G ENSP00000299427.6:p.Thr179=
ENST00000428886.6:n.706A>G
ENST00000436873.6:c.450+234A>G ENSP00000398136.2:n.450+234A>G
ENST00000524788.1:n.237A>G
ENST00000528571.5:c.*277A>G ENSP00000434647.1:n.*277A>G
ENST00000528807.1:n.87A>G
ENST00000533371.5:c.-193A>G ENSP00000437066.1:n.-193A>G
ENST00000534644.5:n.522A>G
ENST00000611494.4:c.537A>G ENSP00000484546.1:p.Thr179=
NM_000391.3:c.537A>G NP_000382.3:p.Thr179=
NM_000391.4:c.537A>G MANE Select NP_000382.3:p.Thr179=