Canonical Allele Identifier: CA2695213226

Gene: TPP1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617312dup , CM000673.2:g.6617312dup	GRCh38
NC_000011.9:g.6638543dup , CM000673.1:g.6638543dup	GRCh37
NC_000011.8:g.6595119dup	NCBI36
NG_008653.1:g.7150dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.383dup	ENSP00000507321.1:p.His128GlnfsTer22
ENST00000299427.12:c.497dup MANE Select	ENSP00000299427.6:p.His166GlnfsTer22
ENST00000428886.7:n.585dup
ENST00000436873.7:c.301dup
ENST00000524788.2:n.1509dup
ENST00000524903.2:n.1625dup
ENST00000528571.6:c.*237dup	ENSP00000434647.1:n.*237dup
ENST00000528807.2:n.153dup
ENST00000530040.2:n.479+47dup
ENST00000533371.6:c.-233dup	ENSP00000437066.1:n.-233dup
ENST00000534644.6:n.456+42dup
ENST00000642892.1:c.-222+42dup	ENSP00000494165.1:n.-222+42dup
ENST00000643439.1:c.*237dup	ENSP00000495849.1:n.*237dup
ENST00000643479.1:n.526dup
ENST00000643516.1:c.384dup
ENST00000644151.1:n.1789dup
ENST00000644218.1:c.497dup	ENSP00000493574.1:p.His166GlnfsTer22
ENST00000644683.1:c.450+47dup	ENSP00000494085.1:n.450+47dup
ENST00000644810.1:c.230-159dup	ENSP00000495895.1:n.230-159dup
ENST00000644831.1:n.526dup
ENST00000644933.1:c.-233dup	ENSP00000496133.1:n.-233dup
ENST00000645020.1:n.1525dup
ENST00000645285.1:c.-233dup	ENSP00000495058.1:n.-233dup
ENST00000645331.1:n.716dup
ENST00000645620.1:c.-222+47dup	ENSP00000493657.1:n.-222+47dup
ENST00000646777.1:n.526dup
ENST00000647016.1:n.830dup
ENST00000647152.1:c.-233dup	ENSP00000495893.1:n.-233dup
ENST00000647209.1:c.*366dup	ENSP00000495558.1:n.*366dup
ENST00000647346.1:n.1517dup
ENST00000299427.10:c.497dup	ENSP00000299427.6:p.His166GlnfsTer22
ENST00000428886.6:n.519dup
ENST00000436873.6:c.450+47dup	ENSP00000398136.2:n.450+47dup
ENST00000524788.1:n.50dup
ENST00000528571.5:c.*237dup	ENSP00000434647.1:n.*237dup
ENST00000533371.5:c.-233dup	ENSP00000437066.1:n.-233dup
ENST00000534644.5:n.482dup
ENST00000611494.4:c.497dup	ENSP00000484546.1:p.His166GlnfsTer22
NM_000391.3:c.497dup	NP_000382.3:p.His166GlnfsTer22
NM_000391.4:c.497dup MANE Select	NP_000382.3:p.His166GlnfsTer22