Canonical Allele Identifier: CA3003846955

Gene: TPP1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616440dup , CM000673.2:g.6616440dup	GRCh38
NC_000011.9:g.6637671dup , CM000673.1:g.6637671dup	GRCh37
NC_000011.8:g.6594247dup	NCBI36
NG_008653.1:g.8022dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.836dup	ENSP00000507321.1:p.Pro280AlafsTer11
ENST00000299427.12:c.950dup MANE Select	ENSP00000299427.6:p.Pro318AlafsTer11
ENST00000436873.7:c.313-366dup
ENST00000530040.2:n.543dup
ENST00000533371.6:c.221dup	ENSP00000437066.1:p.Pro75AlafsTer11
ENST00000642892.1:c.221dup	ENSP00000494165.1:p.Pro75AlafsTer11
ENST00000643342.1:c.40dup
ENST00000643439.1:c.*690dup	ENSP00000495849.1:n.*690dup
ENST00000643479.1:n.1136dup
ENST00000643516.1:c.459dup
ENST00000644218.1:c.886+221dup	ENSP00000493574.1:n.886+221dup
ENST00000644683.1:c.*403dup	ENSP00000494085.1:n.*403dup
ENST00000644810.1:c.671dup	ENSP00000495895.1:p.Pro225AlafsTer11
ENST00000644831.1:n.1126dup
ENST00000644933.1:c.221dup	ENSP00000496133.1:p.Pro75AlafsTer11
ENST00000645285.1:c.157+221dup	ENSP00000495058.1:n.157+221dup
ENST00000645331.1:n.1473dup
ENST00000645620.1:c.221dup	ENSP00000493657.1:p.Pro75AlafsTer11
ENST00000646691.1:n.43dup
ENST00000646777.1:n.1283dup
ENST00000647016.1:n.1430dup
ENST00000647152.1:c.221dup	ENSP00000495893.1:p.Pro75AlafsTer11
ENST00000647209.1:c.*819dup	ENSP00000495558.1:n.*819dup
ENST00000647346.1:n.1970dup
ENST00000299427.10:c.950dup	ENSP00000299427.6:p.Pro318AlafsTer11
ENST00000436873.6:c.514dup	ENSP00000398136.2:p.Cys172LeufsTer?
ENST00000533371.5:c.221dup	ENSP00000437066.1:p.Pro75AlafsTer11
ENST00000611494.4:c.950dup	ENSP00000484546.1:p.Pro318AlafsTer11
NM_000391.3:c.950dup	NP_000382.3:p.Pro318AlafsTer11
NM_000391.4:c.950dup MANE Select	NP_000382.3:p.Pro318AlafsTer11