Canonical Allele Identifier: CA472923090

Gene: TPP1

Linked Data

• ClinVar Variation Id: 1156376
• ClinVar RCV Id: RCV001499022
• dbSNP Id: rs2134595821
• gnomAD v4: 11-6617419-C-T
• MyVariant Identifiers: chr11:g.6638650C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617419C>T , CM000673.2:g.6617419C>T	GRCh38
NC_000011.9:g.6638650C>T , CM000673.1:g.6638650C>T	GRCh37
NC_000011.8:g.6595226C>T	NCBI36
NG_008653.1:g.7043G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.276G>A	ENSP00000507321.1:p.Glu92=
ENST00000299427.12:c.390G>A MANE Select	ENSP00000299427.6:p.Glu130=
ENST00000428886.7:n.478G>A
ENST00000436873.7:c.194G>A
ENST00000524788.2:n.1402G>A
ENST00000524903.2:n.1518G>A
ENST00000528571.6:c.*130G>A	ENSP00000434647.1:n.*130G>A
ENST00000528807.2:n.46G>A
ENST00000530040.2:n.419G>A
ENST00000533371.6:c.-340G>A	ENSP00000437066.1:n.-340G>A
ENST00000534644.6:n.391G>A
ENST00000642892.1:c.-287G>A	ENSP00000494165.1:n.-287G>A
ENST00000643439.1:c.*130G>A	ENSP00000495849.1:n.*130G>A
ENST00000643479.1:n.419G>A
ENST00000643516.1:c.277G>A
ENST00000644151.1:n.1682G>A
ENST00000644218.1:c.390G>A	ENSP00000493574.1:p.Glu130=
ENST00000644683.1:c.390G>A	ENSP00000494085.1:p.Glu130=
ENST00000644810.1:c.230-266G>A	ENSP00000495895.1:n.230-266G>A
ENST00000644831.1:n.419G>A
ENST00000644933.1:c.-340G>A	ENSP00000496133.1:n.-340G>A
ENST00000645020.1:n.1418G>A
ENST00000645285.1:c.-340G>A	ENSP00000495058.1:n.-340G>A
ENST00000645331.1:n.609G>A
ENST00000645620.1:c.-282G>A	ENSP00000493657.1:n.-282G>A
ENST00000646777.1:n.419G>A
ENST00000647016.1:n.723G>A
ENST00000647152.1:c.-340G>A	ENSP00000495893.1:n.-340G>A
ENST00000647209.1:c.*259G>A	ENSP00000495558.1:n.*259G>A
ENST00000647346.1:n.1410G>A
ENST00000299427.10:c.390G>A	ENSP00000299427.6:p.Glu130=
ENST00000428886.6:n.412G>A
ENST00000436873.6:c.390G>A	ENSP00000398136.2:p.Glu130=
ENST00000528571.5:c.*130G>A	ENSP00000434647.1:n.*130G>A
ENST00000530040.1:n.502G>A
ENST00000533371.5:c.-340G>A	ENSP00000437066.1:n.-340G>A
ENST00000534644.5:n.375G>A
ENST00000611494.4:c.390G>A	ENSP00000484546.1:p.Glu130=
NM_000391.3:c.390G>A	NP_000382.3:p.Glu130=
NM_000391.4:c.390G>A MANE Select	NP_000382.3:p.Glu130=