Canonical Allele Identifier: CA2580084015

Gene: TPP1

Linked Data

• ClinVar Variation Id: 2135839
• ClinVar RCV Id: RCV003059760

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617060dup , CM000673.2:g.6617060dup	GRCh38
NC_000011.9:g.6638291dup , CM000673.1:g.6638291dup	GRCh37
NC_000011.8:g.6594867dup	NCBI36
NG_008653.1:g.7406dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.492dup	ENSP00000507321.1:p.Ser165LeufsTer5
ENST00000299427.12:c.606dup MANE Select	ENSP00000299427.6:p.Ser203LeufsTer5
ENST00000436873.7:c.312+245dup
ENST00000524788.2:n.1765dup
ENST00000524903.2:n.1881dup
ENST00000528807.2:n.262dup
ENST00000530040.2:n.479+303dup
ENST00000533371.6:c.-124dup	ENSP00000437066.1:n.-124dup
ENST00000534644.6:n.554dup
ENST00000642892.1:c.-124dup	ENSP00000494165.1:n.-124dup
ENST00000643439.1:c.*346dup	ENSP00000495849.1:n.*346dup
ENST00000643479.1:n.635dup
ENST00000643516.1:c.395+245dup
ENST00000644151.1:n.2045dup
ENST00000644218.1:c.606dup	ENSP00000493574.1:p.Ser203LeufsTer5
ENST00000644683.1:c.*59dup	ENSP00000494085.1:n.*59dup
ENST00000644810.1:c.327dup	ENSP00000495895.1:p.Ser110LeufsTer5
ENST00000644831.1:n.782dup
ENST00000644933.1:c.-124dup	ENSP00000496133.1:n.-124dup
ENST00000645020.1:n.1781dup
ENST00000645285.1:c.-124dup	ENSP00000495058.1:n.-124dup
ENST00000645331.1:n.972dup
ENST00000645620.1:c.-124dup	ENSP00000493657.1:n.-124dup
ENST00000646777.1:n.782dup
ENST00000647016.1:n.1086dup
ENST00000647152.1:c.-124dup	ENSP00000495893.1:n.-124dup
ENST00000647209.1:c.*475dup	ENSP00000495558.1:n.*475dup
ENST00000647346.1:n.1626dup
ENST00000299427.10:c.606dup	ENSP00000299427.6:p.Ser203LeufsTer5
ENST00000428886.6:n.775dup
ENST00000436873.6:c.450+303dup	ENSP00000398136.2:n.450+303dup
ENST00000524788.1:n.306dup
ENST00000528571.5:c.*346dup	ENSP00000434647.1:n.*346dup
ENST00000528807.1:n.156dup
ENST00000533371.5:c.-124dup	ENSP00000437066.1:n.-124dup
ENST00000534644.5:n.591dup
ENST00000611494.4:c.606dup	ENSP00000484546.1:p.Ser203LeufsTer5
NM_000391.3:c.606dup	NP_000382.3:p.Ser203LeufsTer5
NM_000391.4:c.606dup MANE Select	NP_000382.3:p.Ser203LeufsTer5