Canonical Allele Identifier: CA472923099
Gene: TPP1 HGNC NCBI

Linked Data

gnomAD v4: 11-6617428-T-C
MyVariant Identifiers: chr11:g.6638659T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6617428T>C , CM000673.2:g.6617428T>C GRCh38
NC_000011.9:g.6638659T>C , CM000673.1:g.6638659T>C GRCh37
NC_000011.8:g.6595235T>C NCBI36
NG_008653.1:g.7034A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000682424.1:c.267A>G ENSP00000507321.1:p.Arg89=
ENST00000299427.12:c.381A>G MANE Select ENSP00000299427.6:p.Arg127=
ENST00000428886.7:n.469A>G
ENST00000436873.7:c.185A>G
ENST00000524788.2:n.1393A>G
ENST00000524903.2:n.1509A>G
ENST00000528571.6:c.*121A>G ENSP00000434647.1:n.*121A>G
ENST00000528807.2:n.37A>G
ENST00000530040.2:n.410A>G
ENST00000533371.6:c.-349A>G ENSP00000437066.1:n.-349A>G
ENST00000534644.6:n.382A>G
ENST00000642892.1:c.-296A>G ENSP00000494165.1:n.-296A>G
ENST00000643439.1:c.*121A>G ENSP00000495849.1:n.*121A>G
ENST00000643479.1:n.410A>G
ENST00000643516.1:c.268A>G
ENST00000644151.1:n.1673A>G
ENST00000644218.1:c.381A>G ENSP00000493574.1:p.Arg127=
ENST00000644683.1:c.381A>G ENSP00000494085.1:p.Arg127=
ENST00000644810.1:c.230-275A>G ENSP00000495895.1:n.230-275A>G
ENST00000644831.1:n.410A>G
ENST00000644933.1:c.-349A>G ENSP00000496133.1:n.-349A>G
ENST00000645020.1:n.1409A>G
ENST00000645285.1:c.-349A>G ENSP00000495058.1:n.-349A>G
ENST00000645331.1:n.600A>G
ENST00000645620.1:c.-291A>G ENSP00000493657.1:n.-291A>G
ENST00000646777.1:n.410A>G
ENST00000647016.1:n.714A>G
ENST00000647152.1:c.-349A>G ENSP00000495893.1:n.-349A>G
ENST00000647209.1:c.*250A>G ENSP00000495558.1:n.*250A>G
ENST00000647346.1:n.1401A>G
ENST00000299427.10:c.381A>G ENSP00000299427.6:p.Arg127=
ENST00000428886.6:n.403A>G
ENST00000436873.6:c.381A>G ENSP00000398136.2:p.Arg127=
ENST00000528571.5:c.*121A>G ENSP00000434647.1:n.*121A>G
ENST00000530040.1:n.493A>G
ENST00000533371.5:c.-349A>G ENSP00000437066.1:n.-349A>G
ENST00000534644.5:n.366A>G
ENST00000611494.4:c.381A>G ENSP00000484546.1:p.Arg127=
NM_000391.3:c.381A>G NP_000382.3:p.Arg127=
NM_000391.4:c.381A>G MANE Select NP_000382.3:p.Arg127=