Canonical Allele Identifier: CA16041511

Gene: TPP1

Linked Data

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6614973dup , CM000673.2:g.6614973dup	GRCh38
NC_000011.9:g.6636204dup , CM000673.1:g.6636204dup	GRCh37
NC_000011.8:g.6592780dup	NCBI36
NG_008653.1:g.9494dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1335dup	ENSP00000507321.1:p.Ile446AspfsTer7
ENST00000299427.12:c.1449dup MANE Select	ENSP00000299427.6:p.Ile484AspfsTer7
ENST00000524611.2:n.309dup
ENST00000524924.2:n.569dup
ENST00000533371.6:c.720dup	ENSP00000437066.1:p.Ile241AspfsTer7
ENST00000642892.1:c.720dup	ENSP00000494165.1:p.Ile241AspfsTer7
ENST00000643342.1:c.522dup
ENST00000643439.1:c.*1189dup	ENSP00000495849.1:n.*1189dup
ENST00000643479.1:n.1635dup
ENST00000643516.1:c.958dup
ENST00000644218.1:c.1260dup	ENSP00000493574.1:p.Ile421AspfsTer7
ENST00000644683.1:c.*902dup	ENSP00000494085.1:n.*902dup
ENST00000644810.1:c.1170dup	ENSP00000495895.1:p.Ile391AspfsTer7
ENST00000644831.1:n.1625dup
ENST00000644933.1:c.*315dup	ENSP00000496133.1:n.*315dup
ENST00000645285.1:c.*315dup	ENSP00000495058.1:n.*315dup
ENST00000645331.1:n.2654dup
ENST00000645620.1:c.720dup	ENSP00000493657.1:p.Ile241AspfsTer7
ENST00000646691.1:n.1336dup
ENST00000646777.1:n.1782dup
ENST00000647016.1:n.1929dup
ENST00000647152.1:c.720dup	ENSP00000495893.1:p.Ile241AspfsTer7
ENST00000647209.1:c.*1318dup	ENSP00000495558.1:n.*1318dup
ENST00000647346.1:n.2469dup
ENST00000299427.10:c.1449dup	ENSP00000299427.6:p.Ile484AspfsTer7
ENST00000524611.1:n.327dup
ENST00000533371.5:c.720dup	ENSP00000437066.1:p.Ile241AspfsTer7
ENST00000611494.4:c.1449dup	ENSP00000484546.1:p.Ile484AspfsTer7
NM_000391.3:c.1449dup	NP_000382.3:p.Ile484AspfsTer7
NM_000391.4:c.1449dup MANE Select	NP_000382.3:p.Ile484AspfsTer7