Canonical Allele Identifier: CA2841969314

Gene: TPP1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6614633dup , CM000673.2:g.6614633dup	GRCh38
NC_000011.9:g.6635864dup , CM000673.1:g.6635864dup	GRCh37
NC_000011.8:g.6592440dup	NCBI36
NG_008653.1:g.9831dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1493dup	ENSP00000507321.1:p.Cys499LeufsTer?
ENST00000299427.12:c.1607dup MANE Select	ENSP00000299427.6:p.Cys537LeufsTer?
ENST00000524611.2:n.646dup
ENST00000524924.2:n.727dup
ENST00000533371.6:c.878dup	ENSP00000437066.1:p.Cys294LeufsTer?
ENST00000642892.1:c.878dup	ENSP00000494165.1:p.Cys294LeufsTer?
ENST00000643342.1:c.680dup
ENST00000643439.1:c.*1347dup	ENSP00000495849.1:n.*1347dup
ENST00000643479.1:n.1793dup
ENST00000643516.1:c.1116dup
ENST00000644218.1:c.1418dup	ENSP00000493574.1:p.Cys474LeufsTer?
ENST00000644683.1:c.*1060dup	ENSP00000494085.1:n.*1060dup
ENST00000644810.1:c.1328dup	ENSP00000495895.1:p.Cys444LeufsTer?
ENST00000644831.1:n.1783dup
ENST00000644933.1:c.*473dup	ENSP00000496133.1:n.*473dup
ENST00000645285.1:c.*473dup	ENSP00000495058.1:n.*473dup
ENST00000645331.1:n.2812dup
ENST00000645620.1:c.878dup	ENSP00000493657.1:p.Cys294LeufsTer?
ENST00000646691.1:n.1494dup
ENST00000646777.1:n.1940dup
ENST00000647016.1:n.2087dup
ENST00000647152.1:c.878dup	ENSP00000495893.1:p.Cys294LeufsTer?
ENST00000647209.1:c.*1476dup	ENSP00000495558.1:n.*1476dup
ENST00000647346.1:n.2627dup
ENST00000299427.10:c.1607dup	ENSP00000299427.6:p.Cys537LeufsTer?
ENST00000533371.5:c.878dup	ENSP00000437066.1:p.Cys294LeufsTer?
ENST00000611494.4:c.1607dup	ENSP00000484546.1:p.Cys537LeufsTer28
NM_000391.3:c.1607dup	NP_000382.3:p.Cys537LeufsTer?
NM_000391.4:c.1607dup MANE Select	NP_000382.3:p.Cys537LeufsTer?