Canonical Allele Identifier: CA2790314330

Gene: TPP1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617068dup , CM000673.2:g.6617068dup	GRCh38
NC_000011.9:g.6638299dup , CM000673.1:g.6638299dup	GRCh37
NC_000011.8:g.6594875dup	NCBI36
NG_008653.1:g.7398dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.484dup	ENSP00000507321.1:p.Val162GlyfsTer8
ENST00000299427.12:c.598dup MANE Select	ENSP00000299427.6:p.Val200GlyfsTer8
ENST00000428886.7:n.833dup
ENST00000436873.7:c.312+237dup
ENST00000524788.2:n.1757dup
ENST00000524903.2:n.1873dup
ENST00000528807.2:n.254dup
ENST00000530040.2:n.479+295dup
ENST00000533371.6:c.-132dup	ENSP00000437066.1:n.-132dup
ENST00000534644.6:n.546dup
ENST00000642892.1:c.-132dup	ENSP00000494165.1:n.-132dup
ENST00000643439.1:c.*338dup	ENSP00000495849.1:n.*338dup
ENST00000643479.1:n.627dup
ENST00000643516.1:c.395+237dup
ENST00000644151.1:n.2037dup
ENST00000644218.1:c.598dup	ENSP00000493574.1:p.Val200GlyfsTer8
ENST00000644683.1:c.*51dup	ENSP00000494085.1:n.*51dup
ENST00000644810.1:c.319dup	ENSP00000495895.1:p.Val107GlyfsTer8
ENST00000644831.1:n.774dup
ENST00000644933.1:c.-132dup	ENSP00000496133.1:n.-132dup
ENST00000645020.1:n.1773dup
ENST00000645285.1:c.-132dup	ENSP00000495058.1:n.-132dup
ENST00000645331.1:n.964dup
ENST00000645620.1:c.-132dup	ENSP00000493657.1:n.-132dup
ENST00000646777.1:n.774dup
ENST00000647016.1:n.1078dup
ENST00000647152.1:c.-132dup	ENSP00000495893.1:n.-132dup
ENST00000647209.1:c.*467dup	ENSP00000495558.1:n.*467dup
ENST00000647346.1:n.1618dup
ENST00000299427.10:c.598dup	ENSP00000299427.6:p.Val200GlyfsTer8
ENST00000428886.6:n.767dup
ENST00000436873.6:c.450+295dup	ENSP00000398136.2:n.450+295dup
ENST00000524788.1:n.298dup
ENST00000528571.5:c.*338dup	ENSP00000434647.1:n.*338dup
ENST00000528807.1:n.148dup
ENST00000533371.5:c.-132dup	ENSP00000437066.1:n.-132dup
ENST00000534644.5:n.583dup
ENST00000611494.4:c.598dup	ENSP00000484546.1:p.Val200GlyfsTer8
NM_000391.3:c.598dup	NP_000382.3:p.Val200GlyfsTer8
NM_000391.4:c.598dup MANE Select	NP_000382.3:p.Val200GlyfsTer8