Canonical Allele Identifier: CA472922794
Gene: TPP1 HGNC NCBI

Linked Data

gnomAD v4: 11-6617092-C-T
MyVariant Identifiers: chr11:g.6638323C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6617092C>T , CM000673.2:g.6617092C>T GRCh38
NC_000011.9:g.6638323C>T , CM000673.1:g.6638323C>T GRCh37
NC_000011.8:g.6594899C>T NCBI36
NG_008653.1:g.7370G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000682424.1:c.456G>A ENSP00000507321.1:p.Val152=
ENST00000299427.12:c.570G>A MANE Select ENSP00000299427.6:p.Val190=
ENST00000428886.7:n.805G>A
ENST00000436873.7:c.312+209G>A
ENST00000524788.2:n.1729G>A
ENST00000524903.2:n.1845G>A
ENST00000528807.2:n.226G>A
ENST00000530040.2:n.479+267G>A
ENST00000533371.6:c.-160G>A ENSP00000437066.1:n.-160G>A
ENST00000534644.6:n.518G>A
ENST00000642892.1:c.-160G>A ENSP00000494165.1:n.-160G>A
ENST00000643439.1:c.*310G>A ENSP00000495849.1:n.*310G>A
ENST00000643479.1:n.599G>A
ENST00000643516.1:c.395+209G>A
ENST00000644151.1:n.2009G>A
ENST00000644218.1:c.570G>A ENSP00000493574.1:p.Val190=
ENST00000644683.1:c.*23G>A ENSP00000494085.1:n.*23G>A
ENST00000644810.1:c.291G>A ENSP00000495895.1:p.Val97=
ENST00000644831.1:n.746G>A
ENST00000644933.1:c.-160G>A ENSP00000496133.1:n.-160G>A
ENST00000645020.1:n.1745G>A
ENST00000645285.1:c.-160G>A ENSP00000495058.1:n.-160G>A
ENST00000645331.1:n.936G>A
ENST00000645620.1:c.-160G>A ENSP00000493657.1:n.-160G>A
ENST00000646777.1:n.746G>A
ENST00000647016.1:n.1050G>A
ENST00000647152.1:c.-160G>A ENSP00000495893.1:n.-160G>A
ENST00000647209.1:c.*439G>A ENSP00000495558.1:n.*439G>A
ENST00000647346.1:n.1590G>A
ENST00000299427.10:c.570G>A ENSP00000299427.6:p.Val190=
ENST00000428886.6:n.739G>A
ENST00000436873.6:c.450+267G>A ENSP00000398136.2:n.450+267G>A
ENST00000524788.1:n.270G>A
ENST00000528571.5:c.*310G>A ENSP00000434647.1:n.*310G>A
ENST00000528807.1:n.120G>A
ENST00000533371.5:c.-160G>A ENSP00000437066.1:n.-160G>A
ENST00000534644.5:n.555G>A
ENST00000611494.4:c.570G>A ENSP00000484546.1:p.Val190=
NM_000391.3:c.570G>A NP_000382.3:p.Val190=
NM_000391.4:c.570G>A MANE Select NP_000382.3:p.Val190=